Etiology
Cansever MS,
Zubarioglu T,
Oruc C,
Kiykim E,
Gezdirici A,
Neselioglu S,
Erel O,
Yalcinkaya C,
Aktuglu-Zeybek C
Metab Brain Dis
2019 Feb;34(1):283-288.
Epub 2018 Nov 29
doi: 10.1007/s11011-018-0354-8.
PMID: 30499066
Patay Z,
Orr BA,
Shulkin BL,
Hwang SN,
Ying Y,
Broniscer A,
Boop FA,
Ellison DW
J Inherit Metab Dis
2015 Mar;38(2):273-7.
Epub 2014 Oct 23
doi: 10.1007/s10545-014-9782-8.
PMID: 25338511Free PMC Article
Nota B,
Struys EA,
Pop A,
Jansen EE,
Fernandez Ojeda MR,
Kanhai WA,
Kranendijk M,
van Dooren SJ,
Bevova MR,
Sistermans EA,
Nieuwint AW,
Barth M,
Ben-Omran T,
Hoffmann GF,
de Lonlay P,
McDonald MT,
Meberg A,
Muntau AC,
Nuoffer JM,
Parini R,
Read MH,
Renneberg A,
Santer R,
Strahleck T,
van Schaftingen E,
van der Knaap MS,
Jakobs C,
Salomons GS
Am J Hum Genet
2013 Apr 4;92(4):627-31.
doi: 10.1016/j.ajhg.2013.03.009.
PMID: 23561848Free PMC Article
Korman SH,
Salomons GS,
Gutman A,
Brooks R,
Jakobs C
Neuropediatrics
2004 Jun;35(3):151-6.
doi: 10.1055/s-2004-817905.
PMID: 15248096
Kwong KL,
Mak T,
Fong CM,
Poon KH,
Wong SN,
So KT
Acta Paediatr
2002;91(6):716-8.
doi: 10.1080/080352502760069188.
PMID: 12162609
Diagnosis
Collins RRJ,
Patel K,
Putnam WC,
Kapur P,
Rakheja D
Clin Chem
2017 Dec;63(12):1812-1820.
Epub 2017 Oct 16
doi: 10.1373/clinchem.2016.267666.
PMID: 29038145
Anghileri E,
Bertolino N,
Salsano E,
Antelmi L,
Carpinelli P,
Castellotti B,
Zucca I,
Gellera C,
Bisogno R,
Caccia C,
Cuccarini V
Brain Res
2016 Oct 1;1648(Pt A):506-511.
Epub 2016 Aug 16
doi: 10.1016/j.brainres.2016.08.013.
PMID: 27543339
Steenweg ME,
Jakobs C,
Errami A,
van Dooren SJ,
Adeva Bartolomé MT,
Aerssens P,
Augoustides-Savvapoulou P,
Baric I,
Baumann M,
Bonafé L,
Chabrol B,
Clarke JT,
Clayton P,
Coker M,
Cooper S,
Falik-Zaccai T,
Gorman M,
Hahn A,
Hasanoglu A,
King MD,
de Klerk HB,
Korman SH,
Lee C,
Meldgaard Lund A,
Mejaski-Bosnjak V,
Pascual-Castroviejo I,
Raadhyaksha A,
Rootwelt T,
Roubertie A,
Ruiz-Falco ML,
Scalais E,
Schimmel U,
Seijo-Martinez M,
Suri M,
Sykut-Cegielska J,
Trefz FK,
Uziel G,
Valayannopoulos V,
Vianey-Saban C,
Vlaho S,
Vodopiutz J,
Wajner M,
Walter J,
Walter-Derbort C,
Yapici Z,
Zafeiriou DI,
Spreeuwenberg MD,
Celli J,
den Dunnen JT,
van der Knaap MS,
Salomons GS
Hum Mutat
2010 Apr;31(4):380-90.
doi: 10.1002/humu.21197.
PMID: 20052767
Struys EA
J Inherit Metab Dis
2006 Feb;29(1):21-9.
doi: 10.1007/s10545-006-0317-9.
PMID: 16601864
Nyhan WL,
Shelton GD,
Jakobs C,
Holmes B,
Bowe C,
Curry CJ,
Vance C,
Duran M,
Sweetman L
J Child Neurol
1995 Mar;10(2):137-42.
doi: 10.1177/088307389501000216.
PMID: 7782605
Therapy
Phua YL,
D'Annibale OM,
Karunanidhi A,
Mohsen AW,
Kirmse B,
Dobrowolski SF,
Vockley J
Mol Genet Metab
2024 Jul;142(3):108495.
Epub 2024 May 15
doi: 10.1016/j.ymgme.2024.108495.
PMID: 38772223
Geoerger B,
Schiff M,
Penard-Lacronique V,
Darin N,
Saad SM,
Duchon C,
Lamazière A,
Desmons A,
Pontoizeau C,
Berlanga P,
Ducassou S,
Yen K,
Su M,
Schenkein D,
Ottolenghi C,
De Botton S
Nat Med
2023 Jun;29(6):1358-1363.
Epub 2023 May 29
doi: 10.1038/s41591-023-02382-9.
PMID: 37248298
Mühlhausen C,
Salomons GS,
Lukacs Z,
Struys EA,
van der Knaap MS,
Ullrich K,
Santer R
J Inherit Metab Dis
2014 Sep;37(5):775-81.
Epub 2014 Apr 1
doi: 10.1007/s10545-014-9702-y.
PMID: 24687295
Seijo-Martínez M,
Navarro C,
Castro del Río M,
Vila O,
Puig M,
Ribes A,
Butron M
Arch Neurol
2005 Apr;62(4):666-70.
doi: 10.1001/archneur.62.4.666.
PMID: 15824270
Watanabe H,
Yamaguchi S,
Saiki K,
Shimizu N,
Fukao T,
Kondo N,
Orii T
Clin Chim Acta
1995 Jul 14;238(2):115-24.
doi: 10.1016/0009-8981(95)06074-n.
PMID: 7586571
Prognosis
AlBalawy S,
Ul Islam SS,
Tasbahji N
Saudi Med J
2024 Jul;45(7):745-748.
doi: 10.15537/smj.2024.45.7.20230325.
PMID: 38955445Free PMC Article
Mühlhausen C,
Salomons GS,
Lukacs Z,
Struys EA,
van der Knaap MS,
Ullrich K,
Santer R
J Inherit Metab Dis
2014 Sep;37(5):775-81.
Epub 2014 Apr 1
doi: 10.1007/s10545-014-9702-y.
PMID: 24687295
Rakheja D,
Mitui M,
Boriack RL,
DeBerardinis RJ
Pediatr Blood Cancer
2011 Mar;56(3):379-83.
Epub 2010 Nov 22
doi: 10.1002/pbc.22697.
PMID: 21225914
Seijo-Martínez M,
Navarro C,
Castro del Río M,
Vila O,
Puig M,
Ribes A,
Butron M
Arch Neurol
2005 Apr;62(4):666-70.
doi: 10.1001/archneur.62.4.666.
PMID: 15824270
Moroni I,
Bugiani M,
D'Incerti L,
Maccagnano C,
Rimoldi M,
Bissola L,
Pollo B,
Finocchiaro G,
Uziel G
Neurology
2004 May 25;62(10):1882-4.
doi: 10.1212/01.wnl.0000125335.21381.87.
PMID: 15159502
Clinical prediction guides
Geoerger B,
Schiff M,
Penard-Lacronique V,
Darin N,
Saad SM,
Duchon C,
Lamazière A,
Desmons A,
Pontoizeau C,
Berlanga P,
Ducassou S,
Yen K,
Su M,
Schenkein D,
Ottolenghi C,
De Botton S
Nat Med
2023 Jun;29(6):1358-1363.
Epub 2023 May 29
doi: 10.1038/s41591-023-02382-9.
PMID: 37248298
Pop A,
Williams M,
Struys EA,
Monné M,
Jansen EEW,
De Grassi A,
Kanhai WA,
Scarcia P,
Ojeda MRF,
Porcelli V,
van Dooren SJM,
Lennertz P,
Nota B,
Abdenur JE,
Coman D,
Das AM,
El-Gharbawy A,
Nuoffer JM,
Polic B,
Santer R,
Weinhold N,
Zuccarelli B,
Palmieri F,
Palmieri L,
Salomons GS
J Inherit Metab Dis
2018 Mar;41(2):169-180.
Epub 2017 Dec 13
doi: 10.1007/s10545-017-0106-7.
PMID: 29238895Free PMC Article
Anghileri E,
Bertolino N,
Salsano E,
Antelmi L,
Carpinelli P,
Castellotti B,
Zucca I,
Gellera C,
Bisogno R,
Caccia C,
Cuccarini V
Brain Res
2016 Oct 1;1648(Pt A):506-511.
Epub 2016 Aug 16
doi: 10.1016/j.brainres.2016.08.013.
PMID: 27543339
Mühlhausen C,
Salomons GS,
Lukacs Z,
Struys EA,
van der Knaap MS,
Ullrich K,
Santer R
J Inherit Metab Dis
2014 Sep;37(5):775-81.
Epub 2014 Apr 1
doi: 10.1007/s10545-014-9702-y.
PMID: 24687295
Akbay EA,
Moslehi J,
Christensen CL,
Saha S,
Tchaicha JH,
Ramkissoon SH,
Stewart KM,
Carretero J,
Kikuchi E,
Zhang H,
Cohoon TJ,
Murray S,
Liu W,
Uno K,
Fisch S,
Jones K,
Gurumurthy S,
Gliser C,
Choe S,
Keenan M,
Son J,
Stanley I,
Losman JA,
Padera R,
Bronson RT,
Asara JM,
Abdel-Wahab O,
Amrein PC,
Fathi AT,
Danial NN,
Kimmelman AC,
Kung AL,
Ligon KL,
Yen KE,
Kaelin WG Jr,
Bardeesy N,
Wong KK
Genes Dev
2014 Mar 1;28(5):479-90.
doi: 10.1101/gad.231233.113.
PMID: 24589777Free PMC Article