Etiology
Summar ML,
Mew NA
Pediatr Clin North Am
2018 Apr;65(2):231-246.
Epub 2018 Feb 2
doi: 10.1016/j.pcl.2017.11.004.
PMID: 29502911
El-Hattab AW,
Zarante AM,
Almannai M,
Scaglia F
Mol Genet Metab
2017 Nov;122(3):1-9.
Epub 2017 Sep 18
doi: 10.1016/j.ymgme.2017.09.009.
PMID: 28943110Free PMC Article
Holecek M
JPEN J Parenter Enteral Nutr
2013 Sep;37(5):607-16.
Epub 2012 Sep 18
doi: 10.1177/0148607112460682.
PMID: 22990615
Kuhara T,
Ohse M,
Inoue Y,
Cooper AJ
Anal Bioanal Chem
2011 Jun;400(7):1881-94.
Epub 2011 Mar 2
doi: 10.1007/s00216-011-4766-0.
PMID: 21365350
Sebastio G,
Sperandeo MP,
Andria G
Am J Med Genet C Semin Med Genet
2011 Feb 15;157C(1):54-62.
Epub 2011 Feb 9
doi: 10.1002/ajmg.c.30287.
PMID: 21308987
Diagnosis
Yahyaoui R,
Blasco-Alonso J,
Gonzalo-Marín M,
Benito C,
Serrano-Nieto J,
González-Gallego I,
Ruiz-Sala P,
Pérez B,
González-Lamuño D
Genes (Basel)
2020 Aug 29;11(9)
doi: 10.3390/genes11091018.
PMID: 32872442Free PMC Article
Summar ML,
Mew NA
Pediatr Clin North Am
2018 Apr;65(2):231-246.
Epub 2018 Feb 2
doi: 10.1016/j.pcl.2017.11.004.
PMID: 29502911
Martinelli D,
Diodato D,
Ponzi E,
Monné M,
Boenzi S,
Bertini E,
Fiermonte G,
Dionisi-Vici C
Orphanet J Rare Dis
2015 Mar 11;10:29.
doi: 10.1186/s13023-015-0242-9.
PMID: 25874378Free PMC Article
Kuhara T,
Ohse M,
Inoue Y,
Cooper AJ
Anal Bioanal Chem
2011 Jun;400(7):1881-94.
Epub 2011 Mar 2
doi: 10.1007/s00216-011-4766-0.
PMID: 21365350
Sebastio G,
Sperandeo MP,
Andria G
Am J Med Genet C Semin Med Genet
2011 Feb 15;157C(1):54-62.
Epub 2011 Feb 9
doi: 10.1002/ajmg.c.30287.
PMID: 21308987
Therapy
Ishibashi R,
Hirayama K,
Watanabe S,
Okano K,
Kuroda Y,
Baba Y,
Kanayama T,
Ito C,
Kasahara K,
Aiba S,
Iga R,
Ohtani R,
Inaba Y,
Koshizaka M,
Maezawa Y,
Yokote K
J Diabetes Investig
2023 Dec;14(12):1419-1422.
Epub 2023 Sep 15
doi: 10.1111/jdi.14085.
PMID: 37715448Free PMC Article
Papadia C,
Osowska S,
Cynober L,
Forbes A
Clin Nutr
2018 Dec;37(6 Pt A):1823-1828.
Epub 2017 Oct 16
doi: 10.1016/j.clnu.2017.10.009.
PMID: 29107336
El-Hattab AW,
Zarante AM,
Almannai M,
Scaglia F
Mol Genet Metab
2017 Nov;122(3):1-9.
Epub 2017 Sep 18
doi: 10.1016/j.ymgme.2017.09.009.
PMID: 28943110Free PMC Article
Walker V
Adv Clin Chem
2014;67:73-150.
Epub 2014 Nov 4
doi: 10.1016/bs.acc.2014.09.002.
PMID: 25735860
Holecek M
JPEN J Parenter Enteral Nutr
2013 Sep;37(5):607-16.
Epub 2012 Sep 18
doi: 10.1177/0148607112460682.
PMID: 22990615
Prognosis
Gutierrez V,
Kim-Vasquez D,
Shum M,
Yang Q,
Dikeman D,
Louie SG,
Shirihai OS,
Tsukamoto H,
Liesa M
Redox Biol
2024 Apr;70:103052.
Epub 2024 Jan 24
doi: 10.1016/j.redox.2024.103052.
PMID: 38290384Free PMC Article
El-Hattab AW,
Zarante AM,
Almannai M,
Scaglia F
Mol Genet Metab
2017 Nov;122(3):1-9.
Epub 2017 Sep 18
doi: 10.1016/j.ymgme.2017.09.009.
PMID: 28943110Free PMC Article
Martinelli D,
Diodato D,
Ponzi E,
Monné M,
Boenzi S,
Bertini E,
Fiermonte G,
Dionisi-Vici C
Orphanet J Rare Dis
2015 Mar 11;10:29.
doi: 10.1186/s13023-015-0242-9.
PMID: 25874378Free PMC Article
Ogier de Baulny H,
Schiff M,
Dionisi-Vici C
Mol Genet Metab
2012 May;106(1):12-7.
Epub 2012 Feb 17
doi: 10.1016/j.ymgme.2012.02.010.
PMID: 22402328
Lee NC,
Chien YH,
Kobayashi K,
Saheki T,
Chen HL,
Chiu PC,
Ni YH,
Chang MH,
Hwu WL
J Inherit Metab Dis
2006 Aug;29(4):551-5.
Epub 2006 May 30
doi: 10.1007/s10545-006-0250-y.
PMID: 16736097
Clinical prediction guides
Gutierrez V,
Kim-Vasquez D,
Shum M,
Yang Q,
Dikeman D,
Louie SG,
Shirihai OS,
Tsukamoto H,
Liesa M
Redox Biol
2024 Apr;70:103052.
Epub 2024 Jan 24
doi: 10.1016/j.redox.2024.103052.
PMID: 38290384Free PMC Article
Radha Rama Devi A,
Naushad SM
Gene
2018 Aug 20;668:190-195.
Epub 2018 May 19
doi: 10.1016/j.gene.2018.05.076.
PMID: 29787821
Vitoria I,
Dalmau J,
Ribes C,
Rausell D,
García AM,
López-Montiel J,
Rubio V
Mol Genet Metab
2013 Sep-Oct;110(1-2):181-3.
Epub 2013 Jun 21
doi: 10.1016/j.ymgme.2013.06.011.
PMID: 23835251
Sebastio G,
Sperandeo MP,
Andria G
Am J Med Genet C Semin Med Genet
2011 Feb 15;157C(1):54-62.
Epub 2011 Feb 9
doi: 10.1002/ajmg.c.30287.
PMID: 21308987
Häberle J,
Pauli S,
Schmidt E,
Schulze-Eilfing B,
Berning C,
Koch HG
Mol Genet Metab
2003 Nov;80(3):302-6.
doi: 10.1016/j.ymgme.2003.08.002.
PMID: 14680976