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IDUA pseudodeficiency

MedGen UID:
864880
Concept ID:
C4016443
Finding
Synonym: IDUA PSEUDODEFICIENCY
 
OMIM®: 252800

Professional guidelines

PubMed

Grady LO, Zoltick ES, Zouk H, He W, Perez E, Clarke L, Gold J, Strong A, Sahai I, Yeo J, Green RC, Karaa A, Gold NB
Am J Med Genet A 2025 Apr;197(4):e63940. Epub 2024 Nov 19 doi: 10.1002/ajmg.a.63940. PMID: 39559959

Recent clinical studies

Etiology

Grady LO, Zoltick ES, Zouk H, He W, Perez E, Clarke L, Gold J, Strong A, Sahai I, Yeo J, Green RC, Karaa A, Gold NB
Am J Med Genet A 2025 Apr;197(4):e63940. Epub 2024 Nov 19 doi: 10.1002/ajmg.a.63940. PMID: 39559959
Oguni T, Tomatsu S, Tanaka M, Orii K, Fukao T, Watanabe J, Fukuda S, Notsu Y, Vu DC, Can TBN, Nagai A, Yamaguchi S, Taketani T, Gelb MH, Kobayashi H
Int J Mol Sci 2020 Mar 16;21(6) doi: 10.3390/ijms21062025. PMID: 32188102Free PMC Article
Donati MA, Pasquini E, Spada M, Polo G, Burlina A
Ital J Pediatr 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. PMID: 30442156Free PMC Article
Olkhovych NV, Gorovenko NG
Ukr Biochem J 2016 Sep-Oct;88(5):96-106. doi: 10.15407/ubj88.05.096. PMID: 29235819

Diagnosis

Fillman T, Matteson J, Tang H, Mathur D, Zahedi R, Sen I, Bishop T, Neogi P, Feuchtbaum L, Olney RS, Sciortino S
J Pediatr 2023 Dec;263:113644. Epub 2023 Jul 28 doi: 10.1016/j.jpeds.2023.113644. PMID: 37516270
Zhang T, Duong P, Dayuha R, Collins CJ, Beckman E, Thies J, Chang I, Lam C, Sun A, Scott AI, Thompson J, Singh A, Khaledi H, Gelb MH, Hahn SH
Mol Genet Metab 2022 Aug;136(4):296-305. Epub 2022 Jun 28 doi: 10.1016/j.ymgme.2022.06.006. PMID: 35787971Free PMC Article
Taylor JL, Clinard K, Powell CM, Rehder C, Young SP, Bali D, Beckloff SE, Gehtland LM, Kemper AR, Lee S, Millington D, Patel HS, Shone SM, Woodell C, Zimmerman SJ, Bailey DB Jr, Muenzer J
J Pediatr 2019 Aug;211:193-200.e2. Epub 2019 May 24 doi: 10.1016/j.jpeds.2019.04.027. PMID: 31133280
Donati MA, Pasquini E, Spada M, Polo G, Burlina A
Ital J Pediatr 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. PMID: 30442156Free PMC Article
Olkhovych NV, Gorovenko NG
Ukr Biochem J 2016 Sep-Oct;88(5):96-106. doi: 10.15407/ubj88.05.096. PMID: 29235819

Prognosis

Donati MA, Pasquini E, Spada M, Polo G, Burlina A
Ital J Pediatr 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. PMID: 30442156Free PMC Article

Clinical prediction guides

Donati MA, Pasquini E, Spada M, Polo G, Burlina A
Ital J Pediatr 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. PMID: 30442156Free PMC Article
Aronovich EL, Pan D, Whitley CB
Am J Hum Genet 1996 Jan;58(1):75-85. PMID: 8554071Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

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