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<meta name="description" content="Lysosomal free sialic acid storage disorder (FSASD) is an extremely rare, autosomal recessive, neurodegenerative, multisystemic disorder caused by defects in the lysosomal sialic acid membrane exporter SLC17A5 (sialin). SLC17A5 defects cause free sialic acid and some other acidic hexoses to accumula …"><meta name="keywords" content="pmid:33862140, PMC8175077, doi:10.1016/j.neulet.2021.135896, Review, Marjan Huizing, Mary E Hackbarth, CollabAuthor(name='FSASD Consortium', investigators=[Author(firstnames='David R', lastname='Adams', initials='DR', affs=['Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, United States.'], is_editor=False, suffix=None, equal_contrib=False), Author(firstnames='Kostantin', lastname='Dobrenis', initials='K', affs=['Dominick P. Purpura Department of Neuroscience, Rose F. 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Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, 10461, United States."], is_editor=False, suffix=None, equal_contrib=False), Author(firstnames='Raymond Y', lastname='Wang', initials='RY', affs=["Division of Metabolic Disorders, Children's Hospital of Orange County, 92868, CA, United States; University of California-Irvine School of Medicine, Irvine, 92868, CA, United States."], is_editor=False, suffix=None, equal_contrib=False), Author(firstnames='Roberto', lastname='Zoncu', initials='R', affs=['Department of Molecular and Cell Biology, University of California, Berkeley, 94729, CA, United States.'], is_editor=False, suffix=None, equal_contrib=False)], affs=[]), Animals, Genetic Therapy / trends, Humans, N-Acetylneuraminic Acid / genetics, N-Acetylneuraminic Acid / metabolism, Organic Anion Transporters / genetics, Organic Anion Transporters / metabolism*, Sialic Acid Storage Disease / diagnostic imaging*, Sialic Acid Storage Disease / genetics, Sialic Acid Storage Disease / metabolism*, Sialic Acid Storage Disease / therapy, Stem Cell Transplantation / trends, Symporters / genetics, Symporters / metabolism*, PubMed Abstract, NIH, NLM, NCBI, National Institutes of Health, National Center for Biotechnology Information, National Library of Medicine, MEDLINE"><meta name="robots" content="index,nofollow,noarchive"><meta property="og:title" content="Free sialic acid storage disorder: Progress and promise - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/33862140/"><meta property="og:description" content="Lysosomal free sialic acid storage disorder (FSASD) is an extremely rare, autosomal recessive, neurodegenerative, multisystemic disorder caused by defects in the lysosomal sialic acid membrane exporter SLC17A5 (sialin). 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<a id="maincontent" aria-label="Main page content below" role="navigation"></a>
|
||
|
||
|
||
|
||
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="3gDDspYT4EYnWpwh2DSVsD3HN85WfUzCk3nI5frfEfLRQQC7FWvXWLzllcN88v7W">
|
||
<form action="/" method="get" autocomplete="off" class="usa-search usa-search-big search-form content-page-layout" id="search-form" role="search">
|
||
<div class="inner-wrap">
|
||
<a class="pubmed-logo"
|
||
aria-label="Pubmed Logo"
|
||
href="/"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="pubmed_logo">
|
||
|
||
|
||
<img src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/core/images/pubmed-logo-blue.svg" alt="pubmed logo" />
|
||
|
||
</a>
|
||
|
||
<a href="#" class="search-input-trigger" data-alt-title="Hide search bar" title="Show search bar" aria-label="Show search bar">
|
||
</a>
|
||
|
||
<div role="search" class="search-input">
|
||
|
||
|
||
<div class="form-field ">
|
||
|
||
|
||
<label class="usa-sr-only" for="id_term">
|
||
Search:
|
||
</label>
|
||
|
||
|
||
|
||
<input
|
||
type="search"
|
||
name="term"
|
||
|
||
data-skip-ie-scroll-to-top=""
|
||
data-replace-term-with-exact=""
|
||
data-exact-query=""
|
||
placeholder=""
|
||
class="term-input"
|
||
required="required"
|
||
id="id_term"/><a href="#" class="clear-btn" aria-label="Clear search input" title="Clear search input" role="button" data-pinger-ignore></a><button type="submit" class="search-btn" aria-label="Search" disabled data-pinger-ignore><span class="usa-search-submit-text">Search</span></button>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<!-- Create alert and Create RSS are buttons that look like links -->
|
||
<!-- Better for them to look like buttons but no space -->
|
||
<div class="search-links-wrapper content-page-layout">
|
||
<div class="search-links">
|
||
<a href="/advanced/"
|
||
class="search-input-link adv-search-link"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="adv_search">Advanced</a>
|
||
|
||
|
||
<a href="/clipboard/"
|
||
class="search-input-link clipboard-link hidden"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="clipboard">
|
||
Clipboard <span class="amount-in-clipboard"></span>
|
||
</a>
|
||
</div>
|
||
|
||
<span class="search-input-link user-guide-link" role="navigation" aria-label="User guide">
|
||
<a href="/help/"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="user_guide">
|
||
User Guide
|
||
</a>
|
||
</span>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</form>
|
||
|
||
|
||
<div id="article-page-header">
|
||
<div id="article-top-actions-bar" class="article-top-actions-bar">
|
||
<div class="inner-wrap">
|
||
<div class="actions-container">
|
||
<div class="return-to-search">
|
||
|
||
|
||
</div>
|
||
|
||
<div class="multiple-results-actions " role="region" aria-label="save, email, send to">
|
||
<button id="save-results-panel-trigger"
|
||
type="button"
|
||
class="save-results save-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="save-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="open">
|
||
Save
|
||
</button><button id="email-results-panel-trigger"
|
||
type="button"
|
||
class="email-results email-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="email-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="open">
|
||
Email
|
||
</button><div class="more-actions dropdown-block"><button id="more-actions-trigger"
|
||
type="button"
|
||
class="trigger more-actions-trigger"
|
||
ref="linksrc=show_moreactions_btn"
|
||
aria-label="Send to"
|
||
aria-controls="more-actions-dropdown">Send to</button><div id="more-actions-dropdown" class="dropdown dropdown-container" hidden><div class="content"><ul class="more-actions-links"><li><a class="clipboard-panel-trigger dropdown-block-link "
|
||
href="#"
|
||
role="button"
|
||
data-ga-category="save_share"
|
||
data-ga-action="clipboard"
|
||
data-ga-label="send">
|
||
Clipboard
|
||
</a></li><li><a role="button" class="dropdown-block-link bibliography-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F33862140%2F%23open-bibliography-panel">My Bibliography</a></li><li><a role="button" class="dropdown-block-link collections-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F33862140%2F%23open-collections-panel">Collections</a></li><li><a role="button" class="citation-manager-panel-trigger dropdown-block-link citation-manager-trigger-target" href="#">Citation manager</a></li></ul></div></div></div>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region">
|
||
<button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog">
|
||
<span class="button-label">Display options</span>
|
||
</button>
|
||
|
||
<div class="dropdown" hidden>
|
||
<div class="title">
|
||
Display options
|
||
</div>
|
||
|
||
<div class="content">
|
||
|
||
<div class="format-container">
|
||
<span class="option-label">
|
||
Format
|
||
</span>
|
||
<select name="format" data-initial-value="abstract" aria-label="Display format" id="article-display-format">
|
||
<option value="abstract">Abstract</option>
|
||
|
||
<option value="pubmed">PubMed</option>
|
||
|
||
<option value="pmid">PMID</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="3gDDspYT4EYnWpwh2DSVsD3HN85WfUzCk3nI5frfEfLRQQC7FWvXWLzllcN88v7W">
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="article-panels-container" class="article-panels-container">
|
||
<div id="save-action-panel" class="save-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Save citation to file
|
||
</h2>
|
||
<form id="save-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="3gDDspYT4EYnWpwh2DSVsD3HN85WfUzCk3nI5frfEfLRQQC7FWvXWLzllcN88v7W">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="save-action-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="save-action-format" name="results-format" class="action-panel-selector">
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="pubmed-text">PubMed</option>
|
||
<option value="pmid">PMID</option>
|
||
<option value="abstract">Abstract (text)</option>
|
||
<option value="csv">CSV</option>
|
||
</select>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Save citations to file' panel"
|
||
ref="linksrc=close_save_panel"
|
||
aria-controls="save-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="email-action-panel"
|
||
class="email-action-panel action-panel"
|
||
aria-hidden="true"
|
||
data-recaptcha-script-url="https://www.recaptcha.net/recaptcha/enterprise.js?render=explicit&onload=onloadCaptchaCallback"
|
||
data-recaptcha-enabled="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Email citation
|
||
</h2>
|
||
<form id="email-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/send-email/"
|
||
data-by-search-action="/results-export-email-by-search-data/"
|
||
data-by-ids-action="/send-email/"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post"
|
||
method="post"
|
||
>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="3gDDspYT4EYnWpwh2DSVsD3HN85WfUzCk3nI5frfEfLRQQC7FWvXWLzllcN88v7W">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<span class="action-panel-label">
|
||
Subject:
|
||
</span>
|
||
<span class="email-subject" id="email-subject" aria-label="Email subject">1 selected item: 33862140 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 33862140"/>
|
||
<input type="hidden" name="email-subject-hash" value="d0dc2ca333c3da3e8bbbf92a39a80df512cf69096f2227a4494ed1c89d9429a0"/>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-to" class="action-panel-label required-field-asterisk">
|
||
To:
|
||
</label>
|
||
<input type="email" aria-label="Recipient Email Address" placeholder="email@example.com" id="email-to" class="email-to" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="100" required>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-from" class="action-panel-label">
|
||
From:
|
||
</label>
|
||
<input type="email" aria-label="Sender Email Address" placeholder="email@example.com" id="email-from" class="email-from" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="256">
|
||
</div>
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-citation-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="email-citation-format" name="citation-format" class="action-panel-selector email-citation-format">
|
||
<option selected="selected" value="summary">Summary</option>
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="abstract">Abstract</option>
|
||
<option value="abstract-text">Abstract (text)</option>
|
||
|
||
</select>
|
||
</div>
|
||
<div class="include-supplemental-container">
|
||
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
|
||
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="form-field recaptcha ">
|
||
|
||
|
||
|
||
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
|
||
|
||
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="send">
|
||
Send email
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Email citations' panel"
|
||
ref="linksrc=close_email_panel"
|
||
aria-controls="email-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
<input type="hidden" name="email-search-details" value="" />
|
||
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="collections-action-panel"
|
||
class="collections-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-collections-open-panel-enabled="false"
|
||
data-collections-open-panel-url-hash="#open-collections-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to Collections
|
||
</h3>
|
||
|
||
|
||
<form id="collections-action-panel-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-add-to-collection-max-amount="1000"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="3gDDspYT4EYnWpwh2DSVsD3HN85WfUzCk3nI5frfEfLRQQC7FWvXWLzllcN88v7W">
|
||
|
||
|
||
|
||
<div class="choice-group" role="radiogroup">
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_new">
|
||
<label for="collections-action-panel-new">Create a new collection</label>
|
||
</li>
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_existing">
|
||
<label for="collections-action-panel-existing">Add to an existing collection</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
|
||
<div class="controls-wrapper">
|
||
<div class="action-panel-control-wrap new-collections-controls">
|
||
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label>
|
||
<input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-panel-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="save_share"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection">
|
||
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div>
|
||
</div>
|
||
<div class="action-panel-control-wrap existing-collections-controls">
|
||
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label>
|
||
<select id="collections-action-panel-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="save_share"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
|
||
</select>
|
||
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="add">
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="bibliography-action-panel"
|
||
class="bibliography-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-bibliography-open-panel-enabled="false"
|
||
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to My Bibliography
|
||
</h3>
|
||
<form id="bibliography-action-panel-form"
|
||
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-add-to-bibliography-max-amount="100"
|
||
data-add-to-bibliography-batch-size="10"
|
||
data-bibliography-delegates-url="/list-bibliography-delegates/"
|
||
data-add-to-bibliography-url="/add-to-bibliography/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="3gDDspYT4EYnWpwh2DSVsD3HN85WfUzCk3nI5frfEfLRQQC7FWvXWLzllcN88v7W">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap bibliographies-controls">
|
||
<div class="choice-group">
|
||
<ul class="bibliographies-action-add radio-group-items">
|
||
<li>
|
||
<input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/>
|
||
<label for="my-bibliography">My Bibliography</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your delegates due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore>
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to bibliography' panel"
|
||
ref="linksrc=close_bibliography_panel"
|
||
aria-controls="bibliography-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="mybib"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true"
|
||
data-saved-search-open-panel-enabled="false"
|
||
data-saved-search-open-panel-url-hash="#open-saved-search-panel">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your saved search
|
||
</h2>
|
||
|
||
<form id="saved-search-action-panel-form"
|
||
class="saved-search-action-panel-form action-panel-content action-form"
|
||
data-create-saved-search-url="/create-saved-search/"
|
||
data-try-search-terms-url="/try-search-term/"
|
||
data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="3gDDspYT4EYnWpwh2DSVsD3HN85WfUzCk3nI5frfEfLRQQC7FWvXWLzllcN88v7W">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
|
||
Name of saved search:
|
||
</label>
|
||
<input maxlength="200"
|
||
type="text"
|
||
name="saved-search-name"
|
||
id="saved-search-name"
|
||
class="saved-search-name"
|
||
value=""
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
|
||
Search terms:
|
||
</label>
|
||
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
|
||
</div>
|
||
<div class="test-search-term-wrap">
|
||
<a href="#" class="try-search-term">Test search terms</a>
|
||
</div>
|
||
<div class="choice-group action-panel-extra-margin-top">
|
||
<span class="action-panel-label" id="fieldset-label">
|
||
Would you like email updates of new search results?
|
||
</span>
|
||
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
|
||
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
|
||
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
|
||
</li>
|
||
<li>
|
||
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
|
||
<label for="saved-search-alert-no" class="action-panel-label">No</label>
|
||
</li>
|
||
</ul>
|
||
</fieldset>
|
||
</div>
|
||
|
||
<div class="alert-schedule-wrap">
|
||
<div class="action-panel-control-wrap">
|
||
<label class="action-panel-label">
|
||
Email:
|
||
</label>
|
||
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
|
||
</div>
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="saved-search-frequency" class="action-panel-label">
|
||
Frequency:
|
||
</label>
|
||
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
|
||
<option value="monthly">Monthly</option>
|
||
<option value="weekly">Weekly</option>
|
||
<option value="daily">Daily</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-monthly-additional">
|
||
<label for="saved-search-monthly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
|
||
<option value="Sunday">The first Sunday</option>
|
||
<option value="Monday">The first Monday</option>
|
||
<option value="Tuesday">The first Tuesday</option>
|
||
<option value="Wednesday">The first Wednesday</option>
|
||
<option value="Thursday">The first Thursday</option>
|
||
<option value="Friday">The first Friday</option>
|
||
<option value="Saturday">The first Saturday</option>
|
||
<option value="day">The first day</option>
|
||
<option value="weekday">The first weekday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-weekly-additional">
|
||
<label for="saved-search-weekly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
|
||
<option value="Sunday">Sunday</option>
|
||
<option value="Monday">Monday</option>
|
||
<option value="Tuesday">Tuesday</option>
|
||
<option value="Wednesday">Wednesday</option>
|
||
<option value="Thursday">Thursday</option>
|
||
<option value="Friday">Friday</option>
|
||
<option value="Saturday">Saturday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-report" class="action-panel-label">
|
||
Report format:
|
||
</label>
|
||
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
|
||
<option value="DocSum">Summary</option>
|
||
<option value="DocSumText">Summary (text)</option>
|
||
<option value="Abstract">Abstract</option>
|
||
<option value="AbstractText">Abstract (text)</option>
|
||
<option value="MEDLINE">PubMed</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-amount" class="action-panel-label">
|
||
Send at most:
|
||
</label>
|
||
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
|
||
<option value="1">1 item</option>
|
||
<option value="5" selected>5 items</option>
|
||
<option value="10">10 items</option>
|
||
<option value="20">20 items</option>
|
||
<option value="50">50 items</option>
|
||
<option value="100">100 items</option>
|
||
<option value="200">200 items</option>
|
||
</select>
|
||
</div>
|
||
<div>
|
||
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
|
||
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
|
||
Send even when there aren't any new results
|
||
</label>
|
||
</div>
|
||
<div class="action-panel-control-wrap option-text-in-email-wrap">
|
||
<label for="saved-search-email-text" class="action-panel-label">
|
||
Optional text in email:
|
||
</label>
|
||
<textarea name="saved-search-email-text"
|
||
id="saved-search-email-text"
|
||
class="saved-search-email-text"></textarea>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Save
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your saved search' panel"
|
||
ref="linksrc=close_saved_search_panel"
|
||
aria-controls="saved-search-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Create a file for external citation management software
|
||
</h2>
|
||
<form id="citation-manager-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="3gDDspYT4EYnWpwh2DSVsD3HN85WfUzCk3nI5frfEfLRQQC7FWvXWLzllcN88v7W">
|
||
|
||
|
||
|
||
<input name="results-format" type="hidden" value="pubmed"/>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Send citations to citation manager' panel"
|
||
ref="linksrc=close_citation_manager_panel"
|
||
aria-controls="citation-manager-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your RSS Feed
|
||
</h2>
|
||
|
||
<form id="rss-action-panel-form"
|
||
class="rss-action-panel-form action-panel-content action-form"
|
||
data-create-rss-feed-url="/create-rss-feed-url/"
|
||
data-search-form-term-value="">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="3gDDspYT4EYnWpwh2DSVsD3HN85WfUzCk3nI5frfEfLRQQC7FWvXWLzllcN88v7W">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="rss-name" class="action-panel-label required-field-asterisk">
|
||
Name of RSS Feed:
|
||
</label>
|
||
<input maxlength="200"
|
||
placeholder="Name"
|
||
type="text"
|
||
name="rss-name"
|
||
id="rss-name"
|
||
class="rss-name"
|
||
value=''
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="rss-limit-wrap">
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="rss-limit" class="action-panel-label">
|
||
Number of items displayed:
|
||
</label>
|
||
<select id="rss-limit" class="no-border-panel-selector rss-limit">
|
||
<option value="5">5</option>
|
||
<option value="10">10</option>
|
||
<option value="15" selected="selected">15</option>
|
||
<option value="20">20</option>
|
||
<option value="50">50</option>
|
||
<option value="100">100</option>
|
||
</select>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Creating..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Create RSS
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your RSS' panel"
|
||
ref="linksrc=close_rss_panel"
|
||
aria-controls="rss-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap rss-link-copy-wrap">
|
||
<label for="rss-link" class="usa-sr-only">RSS Link</label>
|
||
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
|
||
<button
|
||
type="button"
|
||
disabled
|
||
class="rss-link-copy-button disabled"
|
||
data-ga-category="save_share"
|
||
data-ga-action="rss"
|
||
data-ga-label="copy">
|
||
Copy
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="article-page" id="article-page" data-article-pmid="33862140">
|
||
<aside class="page-sidebar">
|
||
<div class="inner-wrap">
|
||
|
||
<div class="full-text-links">
|
||
<div class="full-view">
|
||
<h3 class="title">
|
||
Full text links
|
||
</h3>
|
||
<div class="full-text-links-list">
|
||
<a class="link-item
|
||
|
||
dialog-focus"
|
||
href="https://linkinghub.elsevier.com/retrieve/pii/S0304-3940(21)00274-3"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3048&itool=Abstract-def&log$=linkouticon&uid=33862140&db=pubmed&nlmid=7600130"
|
||
title="See full text options at Elsevier Science"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Elsevier Science"
|
||
data-ga-label="33862140"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--linkinghub.elsevier.com-ihub-images-PubMedLink.gif" alt="Elsevier Science full text link"><span class="text">
|
||
|
||
Elsevier Science
|
||
|
||
</span></a><a class="link-item
|
||
pmc
|
||
"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/33862140/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=33862140&db=pubmed&nlmid=7600130"
|
||
title="Free full text at PubMed Central"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="33862140"
|
||
><span class="text">
|
||
|
||
Free PMC article
|
||
|
||
</span></a>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="short-view">
|
||
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
|
||
Full text links
|
||
</a>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><button class="citation-button citation-dialog-trigger"
|
||
aria-label="Open dialog with citation text in different styles"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="open"
|
||
data-all-citations-url="/33862140/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/33862140/export/"><span class="button-label">Cite</span></button><link type="text/css" href="ncbi-overlay-block/src/overlay-block.css"><div class="collections-button-container" data-article-id="33862140" data-article-db="pubmed"><button class="collections-button collections-dialog-trigger"
|
||
aria-label="Save article in MyNCBI collections."
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_button"
|
||
data-collections-open-dialog-enabled="false"
|
||
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F33862140%2F%23open-collections-dialog"
|
||
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
|
||
class="dialog collections-dialog"
|
||
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="3gDDspYT4EYnWpwh2DSVsD3HN85WfUzCk3nI5frfEfLRQQC7FWvXWLzllcN88v7W"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
|
||
id="collections-action-dialog-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
|
||
id="collections-action-dialog-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
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|
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</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2021 Jun 11:755:135896.</span>
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Free sialic acid storage disorder: Progress and promise
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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|
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data-ga-label="Marc C Patterson">Marc C Patterson</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, Mayo Clinic, Rochester, MN, 55905, United States." href="#full-view-affiliation-4" ref="linksrc=author_aff">
|
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4
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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|
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|
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data-ga-label="Steven U Walkley">Steven U Walkley</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, 10461, United States." href="#full-view-affiliation-5" ref="linksrc=author_aff">
|
||
5
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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|
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|
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data-ga-label="William A Gahl">William A Gahl</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, United States." href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a></sup><span class="semicolon">; </span></span><span class="authors-list-item "><a class="full-name"
|
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|
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|
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|
||
|
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</div>
|
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|
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|
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|
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<div class="short-article-details">
|
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|
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Collaborators,
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Affiliations
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<h3 class="title">
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Collaborators
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|
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</h3>
|
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<ul class="group-list">
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<li>
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<strong class="title">FSASD Consortium</strong>:
|
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<div class="authors-list">
|
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<span class="authors-list-item "><a class="full-name"
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href="/?term=Adams+DR"
|
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|
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data-ga-category="search"
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|
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data-ga-label="David R Adams">David R Adams</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, United States." href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Dobrenis+K"
|
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ref="linksrc=author_name_link"
|
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data-ga-category="search"
|
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data-ga-action="author_link"
|
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data-ga-label="Kostantin Dobrenis">Kostantin Dobrenis</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, 10461, United States." href="#full-view-affiliation-5" ref="linksrc=author_aff">
|
||
5
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Foglio+J"
|
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ref="linksrc=author_name_link"
|
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data-ga-category="search"
|
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data-ga-action="author_link"
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data-ga-label="Jessica Foglio">Jessica Foglio</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Salla Treatment and Research (STAR) Foundation, Bronx, NY, 10471, United States." href="#full-view-affiliation-6" ref="linksrc=author_aff">
|
||
6
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Gahl+WA"
|
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ref="linksrc=author_name_link"
|
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data-ga-category="search"
|
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data-ga-action="author_link"
|
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data-ga-label="William A Gahl">William A Gahl</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, United States." href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Gasnier+B"
|
||
ref="linksrc=author_name_link"
|
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data-ga-category="search"
|
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data-ga-action="author_link"
|
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data-ga-label="Bruno Gasnier">Bruno Gasnier</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Université de Paris, Saints-Pères Paris Institute for the Neurosciences (SPPIN), Centre National de la Recherche Scientifique (CNRS), 75006, Paris, France." href="#full-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Hackbarth+M"
|
||
ref="linksrc=author_name_link"
|
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data-ga-category="search"
|
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data-ga-action="author_link"
|
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data-ga-label="Mary Hackbarth">Mary Hackbarth</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, United States." href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Huizing+M"
|
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ref="linksrc=author_name_link"
|
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data-ga-category="search"
|
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data-ga-action="author_link"
|
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data-ga-label="Marjan Huizing">Marjan Huizing</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, United States." href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Lek+M"
|
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ref="linksrc=author_name_link"
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data-ga-category="search"
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data-ga-label="Monkol Lek">Monkol Lek</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, Yale School of Medicine, New Haven, CT, 06519, United States." href="#full-view-affiliation-8" ref="linksrc=author_aff">
|
||
8
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Malicdan+MCV"
|
||
ref="linksrc=author_name_link"
|
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data-ga-category="search"
|
||
data-ga-action="author_link"
|
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data-ga-label="May C V Malicdan">May C V Malicdan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, United States." href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Paavola+LE"
|
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ref="linksrc=author_name_link"
|
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data-ga-category="search"
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data-ga-action="author_link"
|
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data-ga-label="Liisa E Paavola">Liisa E Paavola</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Neural Ltd, Center of Neuropsychology, 90100, Oulu, Finland; Oulu University Hospital, Department of Neurology, 90029, Oulu, Finland." href="#full-view-affiliation-9" ref="linksrc=author_aff">
|
||
9
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Patterson+MC"
|
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ref="linksrc=author_name_link"
|
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data-ga-category="search"
|
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data-ga-action="author_link"
|
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data-ga-label="Marc C Patterson">Marc C Patterson</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, Mayo Clinic, Rochester, MN, 55905, United States." href="#full-view-affiliation-4" ref="linksrc=author_aff">
|
||
4
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Reimer+R"
|
||
ref="linksrc=author_name_link"
|
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data-ga-category="search"
|
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data-ga-action="author_link"
|
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data-ga-label="Richard Reimer">Richard Reimer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, 94305, CA, United States; Palo Alto Veterans Administration Health Care System, Palo Alto, 94304, CA, United States." href="#full-view-affiliation-10" ref="linksrc=author_aff">
|
||
10
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Walkley+SU"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Steven U Walkley">Steven U Walkley</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, 10461, United States." href="#full-view-affiliation-5" ref="linksrc=author_aff">
|
||
5
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Wasserstein+M"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
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data-ga-action="author_link"
|
||
data-ga-label="Melissa Wasserstein">Melissa Wasserstein</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Departments of Pediatrics and Genetics, The Children's Hospital at Montefiore, Bronx, NY, 10467, United States; Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, 10461, United States." href="#full-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Wang+RY"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Raymond Y Wang">Raymond Y Wang</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Metabolic Disorders, Children's Hospital of Orange County, 92868, CA, United States; University of California-Irvine School of Medicine, Irvine, 92868, CA, United States." href="#full-view-affiliation-11" ref="linksrc=author_aff">
|
||
11
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Zoncu+R"
|
||
ref="linksrc=author_name_link"
|
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data-ga-category="search"
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data-ga-action="author_link"
|
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data-ga-label="Roberto Zoncu">Roberto Zoncu</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Cell Biology, University of California, Berkeley, 94729, CA, United States." href="#full-view-affiliation-12" ref="linksrc=author_aff">
|
||
12
|
||
</a></sup></span>
|
||
</div>
|
||
|
||
|
||
</li>
|
||
|
||
</ul>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="affiliations">
|
||
<h3 class="title">
|
||
Affiliations
|
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|
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|
||
|
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|
||
|
||
<li data-affiliation-id="full-view-affiliation-2"
|
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|
||
><sup class="key">2</sup> Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, United States.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-3"
|
||
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|
||
><sup class="key">3</sup> Departments of Pediatrics and Genetics, The Children's Hospital at Montefiore, Bronx, NY, 10467, United States; Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, 10461, United States.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-4"
|
||
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|
||
><sup class="key">4</sup> Department of Neurology, Mayo Clinic, Rochester, MN, 55905, United States.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-5"
|
||
id="full-view-affiliation-5"
|
||
><sup class="key">5</sup> Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, 10461, United States.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-6"
|
||
id="full-view-affiliation-6"
|
||
><sup class="key">6</sup> Salla Treatment and Research (STAR) Foundation, Bronx, NY, 10471, United States.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-7"
|
||
id="full-view-affiliation-7"
|
||
><sup class="key">7</sup> Université de Paris, Saints-Pères Paris Institute for the Neurosciences (SPPIN), Centre National de la Recherche Scientifique (CNRS), 75006, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-8"
|
||
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|
||
><sup class="key">8</sup> Department of Genetics, Yale School of Medicine, New Haven, CT, 06519, United States.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-9"
|
||
id="full-view-affiliation-9"
|
||
><sup class="key">9</sup> Neural Ltd, Center of Neuropsychology, 90100, Oulu, Finland; Oulu University Hospital, Department of Neurology, 90029, Oulu, Finland.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-10"
|
||
id="full-view-affiliation-10"
|
||
><sup class="key">10</sup> Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, 94305, CA, United States; Palo Alto Veterans Administration Health Care System, Palo Alto, 94304, CA, United States.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-11"
|
||
id="full-view-affiliation-11"
|
||
><sup class="key">11</sup> Division of Metabolic Disorders, Children's Hospital of Orange County, 92868, CA, United States; University of California-Irvine School of Medicine, Irvine, 92868, CA, United States.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-12"
|
||
id="full-view-affiliation-12"
|
||
><sup class="key">12</sup> Department of Molecular and Cell Biology, University of California, Berkeley, 94729, CA, United States.</li>
|
||
|
||
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|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
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|
||
|
||
|
||
|
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|
||
|
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|
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|
||
PMID:
|
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|
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|
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|
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|
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<strong class="current-id" title="PubMed ID">33862140</strong>
|
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<span class="id-label">
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PMCID:
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<a class="id-link"
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|
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ref="linksrc=article_id_link&article_id=PMC8175077&id_type=PMC"
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PMC8175077
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|
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|
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<span class="identifier doi">
|
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<span class="id-label">
|
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|
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DOI:
|
||
|
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</span>
|
||
|
||
|
||
<a class="id-link"
|
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target="_blank"
|
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|
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10.1016/j.neulet.2021.135896
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|
||
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|
||
|
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</span>
|
||
|
||
</li>
|
||
|
||
</ul>
|
||
|
||
|
||
|
||
|
||
<div class="in-clipboard-label " hidden>
|
||
Item in Clipboard
|
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</div>
|
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</div>
|
||
<div class="short-view" id="short-view-heading">
|
||
|
||
<div class="publication-type" >Review</div>
|
||
|
||
|
||
|
||
|
||
<h1 class="heading-title">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
Free sialic acid storage disorder: Progress and promise
|
||
|
||
|
||
|
||
|
||
</h1>
|
||
|
||
|
||
|
||
<div class="short-citation">
|
||
<span class="authors-list">
|
||
|
||
|
||
<span class="authors-list-item "><span class="full-name">Marjan Huizing</span><span class="citation-separator"> et al.</span></span>
|
||
|
||
|
||
</span>
|
||
|
||
|
||
<span class="citation-journal">
|
||
Neurosci Lett<span class="citation-separator">.</span>
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><sup class="key">1</sup> Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, United States. Electronic address: mhuizing@mail.nih.gov.</li>
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><sup class="key">3</sup> Departments of Pediatrics and Genetics, The Children's Hospital at Montefiore, Bronx, NY, 10467, United States; Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, 10461, United States.</li>
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><sup class="key">4</sup> Department of Neurology, Mayo Clinic, Rochester, MN, 55905, United States.</li>
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><sup class="key">5</sup> Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, 10461, United States.</li>
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<li data-affiliation-id="short-view-affiliation-6"
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><sup class="key">6</sup> Salla Treatment and Research (STAR) Foundation, Bronx, NY, 10471, United States.</li>
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><sup class="key">7</sup> Université de Paris, Saints-Pères Paris Institute for the Neurosciences (SPPIN), Centre National de la Recherche Scientifique (CNRS), 75006, Paris, France.</li>
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><sup class="key">8</sup> Department of Genetics, Yale School of Medicine, New Haven, CT, 06519, United States.</li>
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><sup class="key">9</sup> Neural Ltd, Center of Neuropsychology, 90100, Oulu, Finland; Oulu University Hospital, Department of Neurology, 90029, Oulu, Finland.</li>
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><sup class="key">10</sup> Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, 94305, CA, United States; Palo Alto Veterans Administration Health Care System, Palo Alto, 94304, CA, United States.</li>
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><sup class="key">11</sup> Division of Metabolic Disorders, Children's Hospital of Orange County, 92868, CA, United States; University of California-Irvine School of Medicine, Irvine, 92868, CA, United States.</li>
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><sup class="key">12</sup> Department of Molecular and Cell Biology, University of California, Berkeley, 94729, CA, United States.</li>
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Lysosomal free sialic acid storage disorder (FSASD) is an extremely rare, autosomal recessive, neurodegenerative, multisystemic disorder caused by defects in the lysosomal sialic acid membrane exporter SLC17A5 (sialin). SLC17A5 defects cause free sialic acid and some other acidic hexoses to accumulate in lysosomes, resulting in enlarged lysosomes in some cell types and 10-100-fold increased urinary excretion of free sialic acid. Clinical features of FSASD include coarse facial features, organomegaly, and progressive neurodegenerative symptoms with cognitive impairment, cerebellar ataxia and muscular hypotonia. Central hypomyelination with cerebellar atrophy and thinning of the corpus callosum are also prominent disease features. Around 200 FSASD cases are reported worldwide, with the clinical spectrum ranging from a severe infantile onset form, often lethal in early childhood, to a mild, less severe form with subjects living into adulthood, also called Salla disease. The pathobiology of FSASD remains poorly understood and FSASD is likely underdiagnosed. Known patients have experienced a diagnostic delay due to the rarity of the disorder, absence of routine urine sialic acid testing, and non-specific clinical symptoms, including developmental delay, ataxia and infantile hypomyelination. There is no approved therapy for FSASD. We initiated a multidisciplinary collaborative effort involving worldwide academic clinical and scientific FSASD experts, the National Institutes of Health (USA), and the FSASD patient advocacy group (Salla Treatment and Research [S.T.A.R.] Foundation) to overcome the scientific, clinical and financial challenges facing the development of new treatments for FSASD. We aim to collect data that incentivize industry to further develop, obtain approval for, and commercialize FSASD treatments. This review summarizes current aspects of FSASD diagnosis, prevalence, etiology, and disease models, as well as challenges on the path to therapeutic approaches for FSASD.
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Hypomyelination; Infantile sialic acid storage disorder; Lysosomal membrane transporter; N-acetylneuraminic acid; SLC17A5; Salla disease; Sialic acid.
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Copyright © 2021. Published by Elsevier B.V.
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<p xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:p1="http://pubmed.gov/pub-one"><bold>Declarations of interest:</bold> none</p>
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<p> Figure 1:. Compilation of FSASD Features </p>
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<p> Figure 1:. Compilation of FSASD Features </p>
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<div class="figure-caption-contents"><b> (A) </b> Electron micrograph of a skin biopsy from an…</div>
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Figure 1:. Compilation of FSASD Features
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<div class="figure-caption-contents"><b>(A)</b> Electron micrograph of a skin biopsy from an intermediate FSASD subject. Dermis revealing blood vessels with endothelial cells (<i>E</i>) and pericytes, a nerve (<i>N</i>) bundle with Schwann cells (<i>SC</i>), and fibroblasts (<i>F</i>). The endothelial cells, fibroblasts, and Schwann cells have numerous enlarged, vacuolar shaped, lysosomes (3860×). Inset: Schwann cell containing enlarged lysosomes, most of which are electron lucent; some contain fine fibrillar material (17,550×). Image derived from [17], with permission from Elsevier Inc. <b>(B)</b> Brain MRI of the same intermediate FSASD subject as in (A) at 10 months of age (right images) compared to age-matched control images (left). Top: Axial T1-weighted, Bottom: Sagittal midline T1-weighted. Note widespread and profound hypomyelination throughout the cerebral and cerebellar hemispheres and small corpus callosum (red arrows). FSASD images derived from [17], with permission from Elsevier Inc. <b>(C)</b> Coarse facial features of FSASD include hypertelorism, flat-bridged nose, depressed nasal bridge, broad nasal tip, long philtrum, broad forehead/brachycephaly, depicted in a 4.5 year old girl [10] and a 30-month old girl [17], both presenting with intermediate FSASD. Images with permission from Elsevier Inc. <b>(D)</b> Ultrastructural images of control and <i>Slc17A5</i><sup><i>−/−</i></sup> (knock-out, FSASD) mice cervical spinal cord (top) and optic nerve (bottom) cut in cross section demonstrate a decrease in the number of myelinated axons in these tissues in FSASD mice. Scale bars, 2 μm. Image derived from [87] (Copyright 2009 Society for Neuroscience). <b>(E)</b> Fibroblasts from healthy individuals (Control) and an FSASD patient (FSASD) were metabolically labelled with either ManNAl or Neu5NAl for 8 hours and labeled with AzidoFluor 545 fluorescent probe (red) and the nuclear dye DAPI (blue). Cells were then examined using confocal microscopy (Scale bars: 50 μm). <i>Top images</i>: After incorporation of ManNAl, labeled sialylated glycoconjugates were mainly observed in the perinuclear Golgi-like region of both control and FSASD cells, indicating that FSASD cells have the capacity to transform ManNAl into CMP-Neu5NAl, which was then incorporated into the newly synthesized glycoconjugates. <i>Bottom Images</i>: The FSASD cells labeled with Neu5NAl displayed no staining. These results show the inability of Neu5NAl to reach the cytosol and be converted to CMP-Neu5NAl in FSASD cells, consistent with cellular Neu5Al import through the endocytic pathway [128], thus circumventing the absence of a plasma membrane sialic acid transporter. These results confirm not only the crucial role of SLC17A5 in Neu5NAl metabolism, but also the potential of this metabolic labeling methodology to decipher deficiencies in sialic acid pathways. Images derived from [98], with permission from The Royal Society of Chemistry.</div>
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<p> Figure 2:. Intracellular Free Neu5Ac Metabolism and Associated Genetic Disorders </p>
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Figure 2:. Intracellular Free Neu5Ac Metabolism and Associated Genetic Disorders
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<div class="figure-caption-contents">Intracellular free Neu5Ac metabolism comprises three processes: <b>(A)</b> Cytoplasmic free Neu5Ac <underline>biosynthesis</underline> is initiated with the conversion of UDP-N-acetyl glucosamine (UDP-GlcNAc) in a few enzymatic steps to Neu5Ac, which is activated in the nucleus to CMP-Neu5Ac and then transported back to the cytosol [31, 32, 40]. Cytosolic CMP-Neu5Ac is transported into the Golgi by SLC35A1 [129] where it serves as a substrate for sialyltransferases that sialylate nascent glycans [130]. Cytosolic CMP-Neu5Ac also strongly feedback-inhibits the first committed enzyme of sialic acid biosynthesis, UDP-GlcNAc 2 epimerase, providing negative feedback regulation of <i>de novo</i> cytoplasmic Neu5Ac synthesis [33, 34]. <b>(B)</b> Intralysosomal free Neu5Ac <underline>salvage</underline> occurs through recycling of glycans (glycoproteins, gangliosides) through endocytosis by the endo-lysosomal system, where lysosomal enzymes degrade the glycans into their individual building block molecules, including individual monosaccharides. Free Neu5Ac is released from glycans by neuraminidase enzymes [84, 86]. Neu5Ac is then transported from the lysosomal lumen into the cytosol by SLC17A5 [1]. <b>(C)</b> The fate of salvaged free Neu5Ac in the cytoplasm is unclear. A portion may be excreted from the cell, recycled in the Neu5Ac biosynthesis pathway for direct synthesis of CMP-Neu5Ac, or degraded/catabolized by <i>N</i>-acetylneuraminate pyruvate lyase (NPL) [38] into ManNAc and pyruvate. The ManNAc generated in the cytoplasm can either directly re-enter the Neu5Ac biosynthesis pathway or can be converted to N-acetylglycosamine (GlcNAc) for entry in the hexosamine pathway [38]. Several rare genetic disorders are associated with these pathways: <b>(1)</b> GNE myopathy (MIM#605820; ~950 reported cases [131]); <b>(2)</b> N-acetylneuraminic acid phosphate synthase (NANS) deficiency (MIM#605202; ~9 cases [40]); and <b>(3)</b> deficiency of SLC35A1, CDGIIf (MIM#603585; ~3 cases [129]) are characterized by decreased sialylation of glycans; <b>(4)</b> Sialidosis (MIM#256550; >100 cases [132]) is characterized by lysosomal accumulation of sialylated glycans. Three disorders are associated with increased urinary excretion of free Neu5Ac: <b>(5)</b> Sialuria (MIM#269921; ~ 11 cases [33]); <b>(6)</b> FSASD (MIM#269920, #604369; ~200 cases [1]); and <b>(7)</b> NPL deficiency (2 cases [38]).</div>
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role="button"
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data-image-alt="Figure 3:"
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data-pmc-id="PMC8175077"
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data-figure-id="F3">
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<img class="figure-thumb" itemprop="thumbnail"
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<strong class="figure-label">
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<p> Figure 3:. Topology model of SLC17A5 </p>
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</strong>
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<div class="figure-caption-contents"><p> Simplified… </p></div>
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<strong class="figure-label">
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<p> Figure 3:. Topology model of SLC17A5 </p>
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</strong>
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<div class="figure-caption-contents"><p> Simplified model of SLC17A5 (not to scale). SLC17A5 consists… </p></div>
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<strong class="figure-label">
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Figure 3:. Topology model of SLC17A5
|
||
</strong>
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|
||
|
||
<div class="figure-caption-contents">Simplified model of SLC17A5 (not to scale). SLC17A5 consists of 495 amino acids, 12 transmembrane domains and a N-terminal dileucine sorting motif (DRTPLL). Three frequent FSASD mutations are indicated (*). Transmembrane domain 4 (striped) lines a large aqueous cavity that is part of the substrate permeation pathway [4, 5].</div>
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<span class="docsum-authors full-authors">Harb JF, Christensen CL, Kan SH, Rha AK, Andrade-Heckman P, Pollard L, Steet R, Huang JY, Wang RY.</span>
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<span class="docsum-authors short-authors">Harb JF, et al.</span>
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<span class="docsum-journal-citation full-journal-citation">Mol Ther Nucleic Acids. 2023 Aug 26;34:102022. doi: 10.1016/j.omtn.2023.08.024. eCollection 2023 Dec 12.</span>
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<span class="docsum-journal-citation full-journal-citation">J Neurodev Disord. 2024 Mar 15;16(1):10. doi: 10.1186/s11689-024-09518-z.</span>
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Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM, A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases, Nat Genet 23 (1999) 462–465.
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Adams D, Wasserstein M, Free Sialic Acid Storage Disorders. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A (Eds.), GeneReviews, University of Washington, Seattle (WA), 2003. [Updated 2020], p. Available from: <a href="https://www.ncbi.nlm.nih.gov/books/NBK1470/" rel="noopener nofollow" target="_blank" title="External link: https://www.ncbi.nlm.nih.gov/books/NBK1470/">https://www.ncbi.nlm.nih.gov/books/NBK1470/</a>.
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Aula P, Gahl WA, Disorders of Free Sialic Acid Storage. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, G.A. M (Eds.), The Online Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill, 2019, p. <a href="https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225891389" rel="noopener nofollow" target="_blank" title="External link: https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225891389">https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225891389</a>.
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Courville P, Quick M, Reimer RJ, Structure-function studies of the SLC17 transporter sialin identify crucial residues and substrate-induced conformational changes, J Biol Chem 285 (2010) 19316–19323.
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Symporters / metabolism*
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