Etiology
Shah R,
Eklund EA,
Radenkovic S,
Sadek M,
Shammas I,
Verberkmoes S,
Ng BG,
Freeze HH,
Edmondson AC,
He M,
Kozicz T,
Altassan R,
Morava E
Mol Genet Metab
2024 Jun;142(2):108472.
Epub 2024 Apr 23
doi: 10.1016/j.ymgme.2024.108472.
PMID: 38703411Free 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
Anagianni S,
Tuschl K
Curr Neurol Neurosci Rep
2019 May 14;19(6):33.
doi: 10.1007/s11910-019-0942-y.
PMID: 31089831Free PMC Article
Altassan R,
Péanne R,
Jaeken J,
Barone R,
Bidet M,
Borgel D,
Brasil S,
Cassiman D,
Cechova A,
Coman D,
Corral J,
Correia J,
de la Morena-Barrio ME,
de Lonlay P,
Dos Reis V,
Ferreira CR,
Fiumara A,
Francisco R,
Freeze H,
Funke S,
Gardeitchik T,
Gert M,
Girad M,
Giros M,
Grünewald S,
Hernández-Caselles T,
Honzik T,
Hutter M,
Krasnewich D,
Lam C,
Lee J,
Lefeber D,
Marques-de-Silva D,
Martinez AF,
Moravej H,
Õunap K,
Pascoal C,
Pascreau T,
Patterson M,
Quelhas D,
Raymond K,
Sarkhail P,
Schiff M,
Seroczyńska M,
Serrano M,
Seta N,
Sykut-Cegielska J,
Thiel C,
Tort F,
Vals MA,
Videira P,
Witters P,
Zeevaert R,
Morava E
J Inherit Metab Dis
2019 Jan;42(1):5-28.
doi: 10.1002/jimd.12024.
PMID: 30740725
Jaeken J,
Péanne R
J Inherit Metab Dis
2017 Jul;40(4):569-586.
Epub 2017 May 8
doi: 10.1007/s10545-017-0050-6.
PMID: 28484880
Diagnosis
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
Anagianni S,
Tuschl K
Curr Neurol Neurosci Rep
2019 May 14;19(6):33.
doi: 10.1007/s11910-019-0942-y.
PMID: 31089831Free PMC Article
Altassan R,
Péanne R,
Jaeken J,
Barone R,
Bidet M,
Borgel D,
Brasil S,
Cassiman D,
Cechova A,
Coman D,
Corral J,
Correia J,
de la Morena-Barrio ME,
de Lonlay P,
Dos Reis V,
Ferreira CR,
Fiumara A,
Francisco R,
Freeze H,
Funke S,
Gardeitchik T,
Gert M,
Girad M,
Giros M,
Grünewald S,
Hernández-Caselles T,
Honzik T,
Hutter M,
Krasnewich D,
Lam C,
Lee J,
Lefeber D,
Marques-de-Silva D,
Martinez AF,
Moravej H,
Õunap K,
Pascoal C,
Pascreau T,
Patterson M,
Quelhas D,
Raymond K,
Sarkhail P,
Schiff M,
Seroczyńska M,
Serrano M,
Seta N,
Sykut-Cegielska J,
Thiel C,
Tort F,
Vals MA,
Videira P,
Witters P,
Zeevaert R,
Morava E
J Inherit Metab Dis
2019 Jan;42(1):5-28.
doi: 10.1002/jimd.12024.
PMID: 30740725
Jaeken J,
Péanne R
J Inherit Metab Dis
2017 Jul;40(4):569-586.
Epub 2017 May 8
doi: 10.1007/s10545-017-0050-6.
PMID: 28484880
van de Vijver E,
van den Berg TK,
Kuijpers TW
Hematol Oncol Clin North Am
2013 Feb;27(1):101-16, viii.
Epub 2012 Nov 13
doi: 10.1016/j.hoc.2012.10.001.
PMID: 23351991
Therapy
Muthusamy K,
Perez-Ortiz JM,
Ligezka AN,
Altassan R,
Johnsen C,
Schultz MJ,
Patterson MC,
Morava E
Genet Med
2024 Feb;26(2):101027.
Epub 2023 Nov 10
doi: 10.1016/j.gim.2023.101027.
PMID: 37955240
Chauvin SD,
Price S,
Zou J,
Hunsberger S,
Brofferio A,
Matthews H,
Similuk M,
Rosenzweig SD,
Su HC,
Cohen JI,
Lenardo MJ,
Ravell JC
J Clin Immunol
2022 Jan;42(1):108-118.
Epub 2021 Oct 16
doi: 10.1007/s10875-021-01137-w.
PMID: 34655400Free 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
Gámez A,
Serrano M,
Gallego D,
Vilas A,
Pérez B
Biochim Biophys Acta Gen Subj
2020 Nov;1864(11):129686.
Epub 2020 Jul 23
doi: 10.1016/j.bbagen.2020.129686.
PMID: 32712172
Gámez A,
Yuste-Checa P,
Brasil S,
Briso-Montiano Á,
Desviat LR,
Ugarte M,
Pérez-Cerdá C,
Pérez B
Clin Genet
2018 Mar;93(3):450-458.
Epub 2017 Dec 4
doi: 10.1111/cge.13088.
PMID: 28671287
Prognosis
Phuong LK,
Cheung A,
Agrawal R,
Butters C,
Buttery J,
Clark J,
Connell T,
Curtis N,
Daley AJ,
Dobinson HC,
Frith C,
Hameed NS,
Hernstadt H,
Krieser DM,
Loke P,
Ojaimi S,
McMullan B,
Pinzon-Charry A,
Sharp EG,
Sinnappurajar P,
Templeton T,
Wen S,
Cole T,
Gwee A
Pediatr Infect Dis J
2023 Oct 1;42(10):908-913.
Epub 2023 Jul 7
doi: 10.1097/INF.0000000000004004.
PMID: 37463351
Bayat A,
de Valles-Ibáñez G,
Pendziwiat M,
Knaus A,
Alt K,
Biamino E,
Bley A,
Calvert S,
Carney P,
Caro-Llopis A,
Ceulemans B,
Cousin J,
Davis S,
des Portes V,
Edery P,
England E,
Ferreira C,
Freeman J,
Gener B,
Gorce M,
Heron D,
Hildebrand MS,
Jezela-Stanek A,
Jouk PS,
Keren B,
Kloth K,
Kluger G,
Kuhn M,
Lemke JR,
Li H,
Martinez F,
Maxton C,
Mefford HC,
Merla G,
Mierzewska H,
Muir A,
Monfort S,
Nicolai J,
Norman J,
O'Grady G,
Oleksy B,
Orellana C,
Orec LE,
Peinhardt C,
Pronicka E,
Rosello M,
Santos-Simarro F,
Schwaibold EMC,
Stegmann APA,
Stumpel CT,
Szczepanik E,
Terczyńska I,
Thevenon J,
Tzschach A,
Van Bogaert P,
Vittorini R,
Walsh S,
Weckhuysen S,
Weissman B,
Wolfe L,
Reymond A,
De Nittis P,
Poduri A,
Olson H,
Striano P,
Lesca G,
Scheffer IE,
Møller RS,
Sadleir LG
Epilepsia
2022 Apr;63(4):974-991.
Epub 2022 Feb 18
doi: 10.1111/epi.17173.
PMID: 35179230
Vaes L,
Rymen D,
Cassiman D,
Ligezka A,
Vanhoutvin N,
Quelhas D,
Morava E,
Witters P
Genes (Basel)
2021 Oct 21;12(11)
doi: 10.3390/genes12111658.
PMID: 34828263Free PMC Article
Altassan R,
Péanne R,
Jaeken J,
Barone R,
Bidet M,
Borgel D,
Brasil S,
Cassiman D,
Cechova A,
Coman D,
Corral J,
Correia J,
de la Morena-Barrio ME,
de Lonlay P,
Dos Reis V,
Ferreira CR,
Fiumara A,
Francisco R,
Freeze H,
Funke S,
Gardeitchik T,
Gert M,
Girad M,
Giros M,
Grünewald S,
Hernández-Caselles T,
Honzik T,
Hutter M,
Krasnewich D,
Lam C,
Lee J,
Lefeber D,
Marques-de-Silva D,
Martinez AF,
Moravej H,
Õunap K,
Pascoal C,
Pascreau T,
Patterson M,
Quelhas D,
Raymond K,
Sarkhail P,
Schiff M,
Seroczyńska M,
Serrano M,
Seta N,
Sykut-Cegielska J,
Thiel C,
Tort F,
Vals MA,
Videira P,
Witters P,
Zeevaert R,
Morava E
J Inherit Metab Dis
2019 Jan;42(1):5-28.
doi: 10.1002/jimd.12024.
PMID: 30740725
van de Vijver E,
van den Berg TK,
Kuijpers TW
Hematol Oncol Clin North Am
2013 Feb;27(1):101-16, viii.
Epub 2012 Nov 13
doi: 10.1016/j.hoc.2012.10.001.
PMID: 23351991
Clinical prediction guides
Budhraja R,
Radenkovic S,
Jain A,
Muffels IJJ,
Ismaili MHA,
Kozicz T,
Pandey A,
Morava E
Mol Genet Metab
2024 Jun;142(2):108487.
Epub 2024 May 7
doi: 10.1016/j.ymgme.2024.108487.
PMID: 38733638Free PMC Article
Ligezka AN,
Budhraja R,
Nishiyama Y,
Fiesel FC,
Preston G,
Edmondson A,
Ranatunga W,
Van Hove JLK,
Watzlawik JO,
Springer W,
Pandey A,
Morava E,
Kozicz T
Genes (Basel)
2023 Aug 4;14(8)
doi: 10.3390/genes14081585.
PMID: 37628636Free PMC Article
Bayat A,
de Valles-Ibáñez G,
Pendziwiat M,
Knaus A,
Alt K,
Biamino E,
Bley A,
Calvert S,
Carney P,
Caro-Llopis A,
Ceulemans B,
Cousin J,
Davis S,
des Portes V,
Edery P,
England E,
Ferreira C,
Freeman J,
Gener B,
Gorce M,
Heron D,
Hildebrand MS,
Jezela-Stanek A,
Jouk PS,
Keren B,
Kloth K,
Kluger G,
Kuhn M,
Lemke JR,
Li H,
Martinez F,
Maxton C,
Mefford HC,
Merla G,
Mierzewska H,
Muir A,
Monfort S,
Nicolai J,
Norman J,
O'Grady G,
Oleksy B,
Orellana C,
Orec LE,
Peinhardt C,
Pronicka E,
Rosello M,
Santos-Simarro F,
Schwaibold EMC,
Stegmann APA,
Stumpel CT,
Szczepanik E,
Terczyńska I,
Thevenon J,
Tzschach A,
Van Bogaert P,
Vittorini R,
Walsh S,
Weckhuysen S,
Weissman B,
Wolfe L,
Reymond A,
De Nittis P,
Poduri A,
Olson H,
Striano P,
Lesca G,
Scheffer IE,
Møller RS,
Sadleir LG
Epilepsia
2022 Apr;63(4):974-991.
Epub 2022 Feb 18
doi: 10.1111/epi.17173.
PMID: 35179230
Shah PR,
Chauhan B,
Chu CT,
Kofler J,
Nischal KK
Cornea
2022 Feb 1;41(2):219-223.
doi: 10.1097/ICO.0000000000002889.
PMID: 34629439
Vaes L,
Rymen D,
Cassiman D,
Ligezka A,
Vanhoutvin N,
Quelhas D,
Morava E,
Witters P
Genes (Basel)
2021 Oct 21;12(11)
doi: 10.3390/genes12111658.
PMID: 34828263Free PMC Article