Etiology
Kasapkara CS,
Olgac A,
Derinkuyu BE,
Oztoprak U,
Jaeken J
J Coll Physicians Surg Pak
2022 Dec;32(12):SS221-SS226.
doi: 10.29271/jcpsp.2022.Supp0.SS221.
PMID: 36597345
Albokhari D,
Ng BG,
Guberinic A,
Daniel EJP,
Engelhardt NM,
Barone R,
Fiumara A,
Garavelli L,
Trimarchi G,
Wolfe L,
Raymond KM,
Morava E,
He M,
Freeze HH,
Lam C,
Edmondson AC
J Inherit Metab Dis
2022 Sep;45(5):969-980.
Epub 2022 Jun 30
doi: 10.1002/jimd.12527.
PMID: 35716054Free PMC Article
Jansen JC,
Timal S,
van Scherpenzeel M,
Michelakakis H,
Vicogne D,
Ashikov A,
Moraitou M,
Hoischen A,
Huijben K,
Steenbergen G,
van den Boogert MA,
Porta F,
Calvo PL,
Mavrikou M,
Cenacchi G,
van den Bogaart G,
Salomon J,
Holleboom AG,
Rodenburg RJ,
Drenth JP,
Huynen MA,
Wevers RA,
Morava E,
Foulquier F,
Veltman JA,
Lefeber DJ
Am J Hum Genet
2016 Feb 4;98(2):322-30.
Epub 2016 Jan 28
doi: 10.1016/j.ajhg.2015.12.011.
PMID: 26833330Free PMC Article
Rohlfing AK,
Rust S,
Reunert J,
Tirre M,
Du Chesne I,
Wemhoff S,
Meinhardt F,
Hartmann H,
Das AM,
Marquardt T
Gene
2014 Jan 25;534(2):345-51.
Epub 2013 Oct 21
doi: 10.1016/j.gene.2013.10.013.
PMID: 24157261
Vantyghem MC,
Dobbelaere D,
Mention K,
Wemeau JL,
Saudubray JM,
Douillard C
Orphanet J Rare Dis
2012 Jan 28;7:11.
doi: 10.1186/1750-1172-7-11.
PMID: 22284844Free PMC Article
Diagnosis
Albokhari D,
Ng BG,
Guberinic A,
Daniel EJP,
Engelhardt NM,
Barone R,
Fiumara A,
Garavelli L,
Trimarchi G,
Wolfe L,
Raymond KM,
Morava E,
He M,
Freeze HH,
Lam C,
Edmondson AC
J Inherit Metab Dis
2022 Sep;45(5):969-980.
Epub 2022 Jun 30
doi: 10.1002/jimd.12527.
PMID: 35716054Free PMC Article
Čechová A,
Altassan R,
Borgel D,
Bruneel A,
Correia J,
Girard M,
Harroche A,
Kiec-Wilk B,
Mohnike K,
Pascreau T,
Pawliński Ł,
Radenkovic S,
Vuillaumier-Barrot S,
Aldamiz-Echevarria L,
Couce ML,
Martins EG,
Quelhas D,
Morava E,
de Lonlay P,
Witters P,
Honzík T
J Inherit Metab Dis
2020 Jul;43(4):671-693.
Epub 2020 Apr 21
doi: 10.1002/jimd.12241.
PMID: 32266963Free PMC Article
Freeze HH,
Eklund EA,
Ng BG,
Patterson MC
Lancet Neurol
2012 May;11(5):453-66.
doi: 10.1016/S1474-4422(12)70040-6.
PMID: 22516080Free PMC Article
Vantyghem MC,
Dobbelaere D,
Mention K,
Wemeau JL,
Saudubray JM,
Douillard C
Orphanet J Rare Dis
2012 Jan 28;7:11.
doi: 10.1186/1750-1172-7-11.
PMID: 22284844Free PMC Article
Gordon N
Postgrad Med J
2000 Mar;76(893):145-9.
doi: 10.1136/pmj.76.893.145.
PMID: 10684323Free PMC Article
Therapy
Damen G,
de Klerk H,
Huijmans J,
den Hollander J,
Sinaasappel M
J Pediatr Gastroenterol Nutr
2004 Mar;38(3):282-7.
doi: 10.1097/00005176-200403000-00010.
PMID: 15076627
Gordon N
Postgrad Med J
2000 Mar;76(893):145-9.
doi: 10.1136/pmj.76.893.145.
PMID: 10684323Free PMC Article
Prognosis
Tahata S,
Weckwerth J,
Ligezka A,
He M,
Lee HE,
Heimbach J,
Ibrahim SH,
Kozicz T,
Furuya K,
Morava E
Mol Genet Metab
2023 Apr;138(4):107559.
Epub 2023 Mar 17
doi: 10.1016/j.ymgme.2023.107559.
PMID: 36965289Free PMC Article
Ondruskova N,
Honzik T,
Vondrackova A,
Stranecky V,
Tesarova M,
Zeman J,
Hansikova H
J Inherit Metab Dis
2020 Jul;43(4):694-700.
Epub 2020 Apr 7
doi: 10.1002/jimd.12237.
PMID: 32216104Free PMC Article
Girard M,
Poujois A,
Fabre M,
Lacaille F,
Debray D,
Rio M,
Fenaille F,
Cholet S,
Ruel C,
Caussé E,
Selves J,
Bridoux-Henno L,
Woimant F,
Dupré T,
Vuillaumier-Barrot S,
Seta N,
Alric L,
de Lonlay P,
Bruneel A
Mol Genet Metab
2018 Jul;124(3):228-235.
Epub 2018 May 9
doi: 10.1016/j.ymgme.2018.05.002.
PMID: 29759592
Freeze HH,
Eklund EA,
Ng BG,
Patterson MC
Lancet Neurol
2012 May;11(5):453-66.
doi: 10.1016/S1474-4422(12)70040-6.
PMID: 22516080Free PMC Article
Gordon N
Postgrad Med J
2000 Mar;76(893):145-9.
doi: 10.1136/pmj.76.893.145.
PMID: 10684323Free PMC Article
Clinical prediction guides
Rosato BE,
Marra R,
D'Onofrio V,
Del Giudice F,
Della Monica S,
Iolascon A,
Andolfo I,
Russo R
Int J Mol Sci
2022 Jan 24;23(3)
doi: 10.3390/ijms23031304.
PMID: 35163229Free PMC Article
Ondruskova N,
Honzik T,
Vondrackova A,
Stranecky V,
Tesarova M,
Zeman J,
Hansikova H
J Inherit Metab Dis
2020 Jul;43(4):694-700.
Epub 2020 Apr 7
doi: 10.1002/jimd.12237.
PMID: 32216104Free PMC Article