Etiology
Jennings EA,
Abi-Rached ZH,
Jones DE,
Ryan RO
Clin Chim Acta
2023 Nov 1;551:117629.
Epub 2023 Nov 5
doi: 10.1016/j.cca.2023.117629.
PMID: 37935273Free PMC Article
Richard E,
Gallego-Villar L,
Rivera-Barahona A,
Oyarzábal A,
Pérez B,
Rodríguez-Pombo P,
Desviat LR
Oxid Med Cell Longev
2018;2018:1246069.
Epub 2018 Mar 20
doi: 10.1155/2018/1246069.
PMID: 29743968Free PMC Article
Goetzman ES,
Gong Z,
Schiff M,
Wang Y,
Muzumdar RH
J Inherit Metab Dis
2018 Jan;41(1):5-17.
Epub 2017 Sep 26
doi: 10.1007/s10545-017-0091-x.
PMID: 28952033Free PMC Article
Ogier de Baulny H,
Saudubray JM
Semin Neonatol
2002 Feb;7(1):65-74.
doi: 10.1053/siny.2001.0087.
PMID: 12069539
Mahoney MJ
Clin Perinatol
1976 Mar;3(1):61-78.
PMID: 8230
Diagnosis
Ferrando AA,
Wolfe RR,
Hirsch KR,
Church DD,
Kviatkovsky SA,
Roberts MD,
Stout JR,
Gonzalez DE,
Sowinski RJ,
Kreider RB,
Kerksick CM,
Burd NA,
Pasiakos SM,
Ormsbee MJ,
Arent SM,
Arciero PJ,
Campbell BI,
VanDusseldorp TA,
Jager R,
Willoughby DS,
Kalman DS,
Antonio J
J Int Soc Sports Nutr
2023 Dec;20(1):2263409.
Epub 2023 Oct 6
doi: 10.1080/15502783.2023.2263409.
PMID: 37800468Free PMC Article
Tangeraas T,
Constante JR,
Backe PH,
Oyarzábal A,
Neugebauer J,
Weinhold N,
Boemer F,
Debray FG,
Ozturk-Hism B,
Evren G,
Tuba EF,
Ummuhan O,
Footitt E,
Davison J,
Martinez C,
Bueno C,
Machado I,
Rodríguez-Pombo P,
Al-Sannaa N,
De Los Santos M,
López JM,
Ozturkmen-Akay H,
Karaca M,
Tekin M,
Pajares S,
Ormazabal A,
Stoway SD,
Artuch R,
Dixon M,
Mørkrid L,
García-Cazorla A
Brain
2023 Jul 3;146(7):3003-3013.
doi: 10.1093/brain/awad010.
PMID: 36729635
Sass JO
J Inherit Metab Dis
2012 Jan;35(1):1.
Epub 2011 Dec 3
doi: 10.1007/s10545-011-9420-7.
PMID: 22139495
Ogier de Baulny H,
Saudubray JM
Semin Neonatol
2002 Feb;7(1):65-74.
doi: 10.1053/siny.2001.0087.
PMID: 12069539
Mahoney MJ
Clin Perinatol
1976 Mar;3(1):61-78.
PMID: 8230
Therapy
Eisenstein I,
Pollack S,
Hadash A,
Eytan D,
Attias O,
Halberthal M,
Ben-Ari J,
Bar-Joseph G,
Zelikovic I,
Mandel H,
Tal G,
Magen D
Pediatr Nephrol
2022 Nov;37(11):2725-2732.
Epub 2022 Mar 3
doi: 10.1007/s00467-022-05507-3.
PMID: 35239033
Calado RT,
Clé DV
Hematology Am Soc Hematol Educ Program
2017 Dec 8;2017(1):96-101.
doi: 10.1182/asheducation-2017.1.96.
PMID: 29222242Free PMC Article
Boneh A
Mol Genet Metab
2014 Sep-Oct;113(1-2):109-12.
Epub 2014 May 10
doi: 10.1016/j.ymgme.2014.04.009.
PMID: 24857408
Stein J,
Boehles HJ,
Blumenstein I,
Goeters C,
Schulz R;
Working group for developing the guidelines for parenteral nutrition of The German Association for Nutritional Medicine
Ger Med Sci
2009 Nov 18;7:Doc24.
doi: 10.3205/000083.
PMID: 20049071Free PMC Article
Duran M,
Wadman SK
J Inherit Metab Dis
1985;8 Suppl 1:70-5.
doi: 10.1007/BF01800663.
PMID: 3930844
Prognosis
Goetzman ES,
Gong Z,
Schiff M,
Wang Y,
Muzumdar RH
J Inherit Metab Dis
2018 Jan;41(1):5-17.
Epub 2017 Sep 26
doi: 10.1007/s10545-017-0091-x.
PMID: 28952033Free PMC Article
Batshaw ML,
Tuchman M,
Summar M,
Seminara J;
Members of the Urea Cycle Disorders Consortium
Mol Genet Metab
2014 Sep-Oct;113(1-2):127-30.
Epub 2014 Aug 10
doi: 10.1016/j.ymgme.2014.08.001.
PMID: 25135652Free PMC Article
Zschocke J
J Inherit Metab Dis
2012 Jan;35(1):81-9.
Epub 2011 Nov 30
doi: 10.1007/s10545-011-9415-4.
PMID: 22127393
Ogier de Baulny H,
Saudubray JM
Semin Neonatol
2002 Feb;7(1):65-74.
doi: 10.1053/siny.2001.0087.
PMID: 12069539
Mahoney MJ
Clin Perinatol
1976 Mar;3(1):61-78.
PMID: 8230
Clinical prediction guides
Karunanidhi A,
Basu S,
Zhao XJ,
D'Annibale O,
Van't Land C,
Vockley J,
Mohsen AW
Mol Genet Metab
2023 Nov;140(3):107689.
Epub 2023 Aug 25
doi: 10.1016/j.ymgme.2023.107689.
PMID: 37660571Free PMC Article
Tangeraas T,
Constante JR,
Backe PH,
Oyarzábal A,
Neugebauer J,
Weinhold N,
Boemer F,
Debray FG,
Ozturk-Hism B,
Evren G,
Tuba EF,
Ummuhan O,
Footitt E,
Davison J,
Martinez C,
Bueno C,
Machado I,
Rodríguez-Pombo P,
Al-Sannaa N,
De Los Santos M,
López JM,
Ozturkmen-Akay H,
Karaca M,
Tekin M,
Pajares S,
Ormazabal A,
Stoway SD,
Artuch R,
Dixon M,
Mørkrid L,
García-Cazorla A
Brain
2023 Jul 3;146(7):3003-3013.
doi: 10.1093/brain/awad010.
PMID: 36729635
Richard E,
Gallego-Villar L,
Rivera-Barahona A,
Oyarzábal A,
Pérez B,
Rodríguez-Pombo P,
Desviat LR
Oxid Med Cell Longev
2018;2018:1246069.
Epub 2018 Mar 20
doi: 10.1155/2018/1246069.
PMID: 29743968Free PMC Article
Goetzman ES,
Gong Z,
Schiff M,
Wang Y,
Muzumdar RH
J Inherit Metab Dis
2018 Jan;41(1):5-17.
Epub 2017 Sep 26
doi: 10.1007/s10545-017-0091-x.
PMID: 28952033Free PMC Article
Duran M,
Wadman SK
J Inherit Metab Dis
1985;8 Suppl 1:70-5.
doi: 10.1007/BF01800663.
PMID: 3930844