Etiology
Höybye C,
Tauber M
J Clin Endocrinol Metab
2022 May 17;107(6):1698-1705.
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Duis J,
Nespeca M,
Summers J,
Bird L,
Bindels-de Heus KGCB,
Valstar MJ,
de Wit MY,
Navis C,
Ten Hooven-Radstaake M,
van Iperen-Kolk BM,
Ernst S,
Dendrinos M,
Katz T,
Diaz-Medina G,
Katyayan A,
Nangia S,
Thibert R,
Glaze D,
Keary C,
Pelc K,
Simon N,
Sadhwani A,
Heussler H,
Wheeler A,
Woeber C,
DeRamus M,
Thomas A,
Kertcher E,
DeValk L,
Kalemeris K,
Arps K,
Baym C,
Harris N,
Gorham JP,
Bohnsack BL,
Chambers RC,
Harris S,
Chambers HG,
Okoniewski K,
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Berent A,
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Williams C,
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Mol Genet Genomic Med
2022 Mar;10(3):e1843.
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Albesher RA,
Spittle AJ,
McGinley JL,
Dobson FL
Neoreviews
2019 Jul;20(7):e397-e408.
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Wakeling EL,
Brioude F,
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Salem J,
Bliek J,
Canton AP,
Chrzanowska KH,
Davies JH,
Dias RP,
Dubern B,
Elbracht M,
Giabicani E,
Grimberg A,
Grønskov K,
Hokken-Koelega AC,
Jorge AA,
Kagami M,
Linglart A,
Maghnie M,
Mohnike K,
Monk D,
Moore GE,
Murray PG,
Ogata T,
Petit IO,
Russo S,
Said E,
Toumba M,
Tümer Z,
Binder G,
Eggermann T,
Harbison MD,
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Diagnosis
Duis J,
Nespeca M,
Summers J,
Bird L,
Bindels-de Heus KGCB,
Valstar MJ,
de Wit MY,
Navis C,
Ten Hooven-Radstaake M,
van Iperen-Kolk BM,
Ernst S,
Dendrinos M,
Katz T,
Diaz-Medina G,
Katyayan A,
Nangia S,
Thibert R,
Glaze D,
Keary C,
Pelc K,
Simon N,
Sadhwani A,
Heussler H,
Wheeler A,
Woeber C,
DeRamus M,
Thomas A,
Kertcher E,
DeValk L,
Kalemeris K,
Arps K,
Baym C,
Harris N,
Gorham JP,
Bohnsack BL,
Chambers RC,
Harris S,
Chambers HG,
Okoniewski K,
Jalazo ER,
Berent A,
Bacino CA,
Williams C,
Anderson A
Mol Genet Genomic Med
2022 Mar;10(3):e1843.
Epub 2022 Feb 11
doi: 10.1002/mgg3.1843.
PMID: 35150089Free PMC Article
Albesher RA,
Spittle AJ,
McGinley JL,
Dobson FL
Neoreviews
2019 Jul;20(7):e397-e408.
doi: 10.1542/neo.20-7-e397.
PMID: 31261106
Wakeling EL,
Brioude F,
Lokulo-Sodipe O,
O'Connell SM,
Salem J,
Bliek J,
Canton AP,
Chrzanowska KH,
Davies JH,
Dias RP,
Dubern B,
Elbracht M,
Giabicani E,
Grimberg A,
Grønskov K,
Hokken-Koelega AC,
Jorge AA,
Kagami M,
Linglart A,
Maghnie M,
Mohnike K,
Monk D,
Moore GE,
Murray PG,
Ogata T,
Petit IO,
Russo S,
Said E,
Toumba M,
Tümer Z,
Binder G,
Eggermann T,
Harbison MD,
Temple IK,
Mackay DJ,
Netchine I
Nat Rev Endocrinol
2017 Feb;13(2):105-124.
Epub 2016 Sep 2
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PMID: 27585961
Ismail FY,
Fatemi A,
Johnston MV
Eur J Paediatr Neurol
2017 Jan;21(1):23-48.
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Weiss DA
Folia Phoniatr (Basel)
1967;19(4):233-63.
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Therapy
Brandenburg JE,
Rabatin AE,
Driscoll SW
Pediatr Clin North Am
2023 Jun;70(3):483-500.
Epub 2023 Mar 21
doi: 10.1016/j.pcl.2023.01.005.
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Camilleri M
JAMA
2021 Mar 2;325(9):865-877.
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Cacabelos R
Int J Mol Sci
2017 Mar 4;18(3)
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PMID: 28273839Free PMC Article
Wakeling EL,
Brioude F,
Lokulo-Sodipe O,
O'Connell SM,
Salem J,
Bliek J,
Canton AP,
Chrzanowska KH,
Davies JH,
Dias RP,
Dubern B,
Elbracht M,
Giabicani E,
Grimberg A,
Grønskov K,
Hokken-Koelega AC,
Jorge AA,
Kagami M,
Linglart A,
Maghnie M,
Mohnike K,
Monk D,
Moore GE,
Murray PG,
Ogata T,
Petit IO,
Russo S,
Said E,
Toumba M,
Tümer Z,
Binder G,
Eggermann T,
Harbison MD,
Temple IK,
Mackay DJ,
Netchine I
Nat Rev Endocrinol
2017 Feb;13(2):105-124.
Epub 2016 Sep 2
doi: 10.1038/nrendo.2016.138.
PMID: 27585961
Leocani L,
Comi G
Neurol Sci
2008 Sep;29 Suppl 2:S218-21.
doi: 10.1007/s10072-008-0942-1.
PMID: 18690497
Prognosis
Frye RE,
Rincon N,
McCarty PJ,
Brister D,
Scheck AC,
Rossignol DA
Neurobiol Dis
2024 Jul;197:106520.
Epub 2024 May 3
doi: 10.1016/j.nbd.2024.106520.
PMID: 38703861
Höybye C,
Tauber M
J Clin Endocrinol Metab
2022 May 17;107(6):1698-1705.
doi: 10.1210/clinem/dgac082.
PMID: 35150573Free PMC Article
Jakab A,
Payette K,
Mazzone L,
Schauer S,
Muller CO,
Kottke R,
Ochsenbein-Kölble N,
Tuura R,
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Meuli M
Eur Radiol Exp
2021 Jun 17;5(1):23.
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Izawa J,
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Neurosci Res
2016 Mar;104:44-51.
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Leocani L,
Comi G
Neurol Sci
2008 Sep;29 Suppl 2:S218-21.
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PMID: 18690497
Clinical prediction guides
Rice GI,
Kitabayashi N,
Barth M,
Briggs TA,
Burton ACE,
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Dale RC,
Danti FR,
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Petit F,
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Leocani L,
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Neurol Sci
2008 Sep;29 Suppl 2:S218-21.
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PMID: 18690497