Etiology
Tumiene B,
Ferreira CR,
van Karnebeek CDM
Genes (Basel)
2022 Mar 12;13(3)
doi: 10.3390/genes13030508.
PMID: 35328062Free PMC Article
Deneubourg C,
Ramm M,
Smith LJ,
Baron O,
Singh K,
Byrne SC,
Duchen MR,
Gautel M,
Eskelinen EL,
Fanto M,
Jungbluth H
Autophagy
2022 Mar;18(3):496-517.
Epub 2021 Aug 19
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PMID: 34130600Free PMC Article
Altassan R,
Radenkovic S,
Edmondson AC,
Barone R,
Brasil S,
Cechova A,
Coman D,
Donoghue S,
Falkenstein K,
Ferreira V,
Ferreira C,
Fiumara A,
Francisco R,
Freeze H,
Grunewald S,
Honzik T,
Jaeken J,
Krasnewich D,
Lam C,
Lee J,
Lefeber D,
Marques-da-Silva D,
Pascoal C,
Quelhas D,
Raymond KM,
Rymen D,
Seroczynska M,
Serrano M,
Sykut-Cegielska J,
Thiel C,
Tort F,
Vals MA,
Videira P,
Voermans N,
Witters P,
Morava E
J Inherit Metab Dis
2021 Jan;44(1):148-163.
Epub 2020 Sep 15
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Kirschner J
Handb Clin Neurol
2013;113:1377-85.
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Marks PW,
Mitus AJ
Am J Hematol
1996 Jan;51(1):55-63.
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Diagnosis
Beeson D
Handb Clin Neurol
2024;203:69-88.
doi: 10.1016/B978-0-323-90820-7.00013-6.
PMID: 39174255
Deneubourg C,
Ramm M,
Smith LJ,
Baron O,
Singh K,
Byrne SC,
Duchen MR,
Gautel M,
Eskelinen EL,
Fanto M,
Jungbluth H
Autophagy
2022 Mar;18(3):496-517.
Epub 2021 Aug 19
doi: 10.1080/15548627.2021.1943177.
PMID: 34130600Free PMC Article
Altassan R,
Radenkovic S,
Edmondson AC,
Barone R,
Brasil S,
Cechova A,
Coman D,
Donoghue S,
Falkenstein K,
Ferreira V,
Ferreira C,
Fiumara A,
Francisco R,
Freeze H,
Grunewald S,
Honzik T,
Jaeken J,
Krasnewich D,
Lam C,
Lee J,
Lefeber D,
Marques-da-Silva D,
Pascoal C,
Quelhas D,
Raymond KM,
Rymen D,
Seroczynska M,
Serrano M,
Sykut-Cegielska J,
Thiel C,
Tort F,
Vals MA,
Videira P,
Voermans N,
Witters P,
Morava E
J Inherit Metab Dis
2021 Jan;44(1):148-163.
Epub 2020 Sep 15
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PMID: 32681750Free PMC Article
Jaeken J,
Lefeber DJ,
Matthijs G
Eur J Hum Genet
2020 Sep;28(9):1297-1300.
Epub 2020 May 18
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PMID: 32424323Free PMC Article
Makhamreh MM,
Cottingham N,
Ferreira CR,
Berger S,
Al-Kouatly HB
J Inherit Metab Dis
2020 Mar;43(2):223-233.
Epub 2019 Nov 8
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PMID: 31420886Free PMC Article
Therapy
Du A,
Yang K,
Zhou X,
Ren L,
Liu N,
Zhou C,
Liang J,
Yan N,
Gao G,
Wang D
JCI Insight
2024 Oct 8;9(19)
doi: 10.1172/jci.insight.183189.
PMID: 39137042Free PMC Article
De Graef D,
Ligezka AN,
Rezents J,
Mazza GL,
Preston G,
Schwartz K,
Krzysciak W,
Lam C,
Edmondson AC,
Johnsen C,
Kozicz T,
Morava E
Mol Genet Metab
2023 Jun;139(2):107606.
Epub 2023 May 9
doi: 10.1016/j.ymgme.2023.107606.
PMID: 37224763Free PMC Article
Altassan R,
Radenkovic S,
Edmondson AC,
Barone R,
Brasil S,
Cechova A,
Coman D,
Donoghue S,
Falkenstein K,
Ferreira V,
Ferreira C,
Fiumara A,
Francisco R,
Freeze H,
Grunewald S,
Honzik T,
Jaeken J,
Krasnewich D,
Lam C,
Lee J,
Lefeber D,
Marques-da-Silva D,
Pascoal C,
Quelhas D,
Raymond KM,
Rymen D,
Seroczynska M,
Serrano M,
Sykut-Cegielska J,
Thiel C,
Tort F,
Vals MA,
Videira P,
Voermans N,
Witters P,
Morava E
J Inherit Metab Dis
2021 Jan;44(1):148-163.
Epub 2020 Sep 15
doi: 10.1002/jimd.12286.
PMID: 32681750Free PMC Article
Radenkovic S,
Bird MJ,
Emmerzaal TL,
Wong SY,
Felgueira C,
Stiers KM,
Sabbagh L,
Himmelreich N,
Poschet G,
Windmolders P,
Verheijen J,
Witters P,
Altassan R,
Honzik T,
Eminoglu TF,
James PM,
Edmondson AC,
Hertecant J,
Kozicz T,
Thiel C,
Vermeersch P,
Cassiman D,
Beamer L,
Morava E,
Ghesquière B
Am J Hum Genet
2019 May 2;104(5):835-846.
Epub 2019 Apr 11
doi: 10.1016/j.ajhg.2019.03.003.
PMID: 30982613Free PMC Article
Wong SY,
Gadomski T,
van Scherpenzeel M,
Honzik T,
Hansikova H,
Holmefjord KSB,
Mork M,
Bowling F,
Sykut-Cegielska J,
Koch D,
Hertecant J,
Preston G,
Jaeken J,
Peeters N,
Perez S,
Nguyen DD,
Crivelly K,
Emmerzaal T,
Gibson KM,
Raymond K,
Abu Bakar N,
Foulquier F,
Poschet G,
Ackermann AM,
He M,
Lefeber DJ,
Thiel C,
Kozicz T,
Morava E
Genet Med
2017 Nov;19(11):1226-1235.
Epub 2017 Jun 15
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PMID: 28617415Free PMC Article
Prognosis
Zenker M,
Mohnike K,
Palm K
Front Endocrinol (Lausanne)
2023;14:1013874.
Epub 2023 Mar 30
doi: 10.3389/fendo.2023.1013874.
PMID: 37065762Free PMC Article
Yoldas Celik M,
Yazici H,
Erdem F,
Yuksel Yanbolu A,
Aykut A,
Durmaz A,
Zeybek S,
Canda E,
Kalkan Ucar S,
Coker M
J Pediatr Endocrinol Metab
2023 Jun 27;36(6):530-538.
Epub 2023 Apr 13
doi: 10.1515/jpem-2022-0641.
PMID: 37042760
Deneubourg C,
Ramm M,
Smith LJ,
Baron O,
Singh K,
Byrne SC,
Duchen MR,
Gautel M,
Eskelinen EL,
Fanto M,
Jungbluth H
Autophagy
2022 Mar;18(3):496-517.
Epub 2021 Aug 19
doi: 10.1080/15548627.2021.1943177.
PMID: 34130600Free PMC Article
Makhamreh MM,
Cottingham N,
Ferreira CR,
Berger S,
Al-Kouatly HB
J Inherit Metab Dis
2020 Mar;43(2):223-233.
Epub 2019 Nov 8
doi: 10.1002/jimd.12162.
PMID: 31420886Free PMC Article
Kirschner J
Handb Clin Neurol
2013;113:1377-85.
doi: 10.1016/B978-0-444-59565-2.00008-3.
PMID: 23622361
Clinical prediction guides
Zenker M,
Mohnike K,
Palm K
Front Endocrinol (Lausanne)
2023;14:1013874.
Epub 2023 Mar 30
doi: 10.3389/fendo.2023.1013874.
PMID: 37065762Free PMC Article
Yoldas Celik M,
Yazici H,
Erdem F,
Yuksel Yanbolu A,
Aykut A,
Durmaz A,
Zeybek S,
Canda E,
Kalkan Ucar S,
Coker M
J Pediatr Endocrinol Metab
2023 Jun 27;36(6):530-538.
Epub 2023 Apr 13
doi: 10.1515/jpem-2022-0641.
PMID: 37042760
Van Scherpenzeel M,
Willems E,
Lefeber DJ
Glycoconj J
2016 Jun;33(3):345-58.
Epub 2016 Jan 7
doi: 10.1007/s10719-015-9639-x.
PMID: 26739145Free PMC Article
Zhang L,
Müller T,
Baenziger JU,
Janecke AR
Prog Mol Biol Transl Sci
2010;93:289-307.
doi: 10.1016/S1877-1173(10)93012-3.
PMID: 20807649
Marks PW,
Mitus AJ
Am J Hematol
1996 Jan;51(1):55-63.
doi: 10.1002/(SICI)1096-8652(199601)51:1<55::AID-AJH9>3.0.CO;2-6.
PMID: 8571938