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Prenatal Diagnosis|December 2, 2009
Gestational age-related reference values for amniotic fluid organic acidsC Ottolenghi, N Abermil, A Lescoat, et al.
Genomics|March 24, 2000
The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domainC Ottolenghi, R Veitia, L Quintana-Murci, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 28, 2015
Two new cases of serine deficiency disorders treated with l-serineA Brassier, V Valayannopoulos, N Bahi-Buisson, et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|February 17, 2015
Early and late complications after liver transplantation for propionic acidemia in children: a two centers studyF Charbit-Henrion, F Lacaille, P McKiernan, et al.
Journal of Child Neurology|December 17, 2013
Acute psychosis in propionic acidemia: 2 case reportsC Dejean de la Bâtie, V Barbier, V Valayannopoulos, et al.
Molecular Genetics and Metabolism Reports|June 27, 2017
Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosisF Habarou, A Brassier, M Rio, et al.
Journal of Inherited Metabolic Disease|December 20, 2012
Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixtureA Servais, J B Arnoux, C Lamy, et al.
JIMD Reports|May 17, 2017
Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 DeficiencyF Habarou, N Bahi-Buisson, E Lebigot, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|May 19, 2020
Management of 35 critically ill hyperammonemic neonates: Role of early administration of metabolite scavengers and continuous hemodialysisL Abily-Donval, L Dupic, C Joffre, et al.
Molecular Genetics and Metabolism|August 15, 2017
Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patientsE Lebigot, P Gaignard, I Dorboz, et al.
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