Detalhe da pesquisa
1.
Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.
Mol Genet Metab
; 110(1-2): 106-10, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23751327
2.
Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixture.
J Inherit Metab Dis
; 36(6): 939-44, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23250513
3.
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.
Mol Genet Metab
; 103(4): 341-8, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21549624
4.
Gestational age-related reference values for amniotic fluid organic acids.
Prenat Diagn
; 30(1): 43-8, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19950217
5.
Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.
Mol Genet Metab
; 97(2): 109-13, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19345633
6.
Long-term outcome in methylmalonic aciduria: a series of 30 French patients.
Mol Genet Metab
; 97(3): 172-8, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19375370
7.
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12).
J Inherit Metab Dis
; 32(2): 159-62, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19277894
8.
Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria.
Mol Genet Metab
; 95(1-2): 107-9, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18676166
9.
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.
J Clin Invest
; 93(6): 2514-8, 1994 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-8200987
10.
Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture.
J Inherit Metab Dis
; 29(2-3): 288-98, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16763890
11.
Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome.
AJNR Am J Neuroradiol
; 27(2): 333-6, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16484405
12.
Ornithine transcarbamylase deficiencies in human males. Kinetic and immunochemical classification.
Biochim Biophys Acta
; 704(1): 100-6, 1982 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-7093283
13.
Role of N-acetylglutamate and acetyl-CoA in the inhibition of ureagenesis by isovaleric acid in isolated rat hepatocytes.
Biochim Biophys Acta
; 761(1): 13-6, 1983 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-6639961
14.
Impairment of citrulline synthesis during late pregnancy and lactation in rats.
Biochim Biophys Acta
; 838(1): 1-5, 1985 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-3967043
15.
Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children.
Circulation
; 100(22): 2248-53, 1999 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-10577999
16.
Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.
Eur J Med Genet
; 58(3): 148-53, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25595573
17.
Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease.
Neurology
; 51(5): 1427-32, 1998 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-9818873
18.
Effects of organic acids on the synthesis of citrulline by intact rat liver mitochondria.
Biochimie
; 68(5): 639-47, 1986 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-2873843
19.
Developmental changes of citrullinogenesis, mitochondrial N-acetylglutamate content and N-acetylglutamate synthetase in fetal and neonatal rats.
Biochimie
; 65(1): 1-6, 1983 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-6403054
20.
Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria.
Neuromuscul Disord
; 5(4): 285-9, 1995 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-7580240