Detalhe da pesquisa
1.
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.
J Inherit Metab Dis
; 36(3): 411-25, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22814679
2.
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
Mol Genet Metab
; 104(4): 507-16, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21914562
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.
Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.
Mol Genet Metab
; 97(2): 109-13, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19345633
5.
Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
Brain
; 131(Pt 3): 760-1, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18202104
6.
[Inborn errors of metabolism in adults]. / Les maladies héréditaires du métabolisme à l'âge adulte.
Ann Endocrinol (Paris)
; 70(1): 14-24, 2009 Mar.
Artigo
em Francês
| MEDLINE | ID: mdl-19178907
7.
Movement disorders and inborn errors of metabolism in adults: a diagnostic approach.
J Inherit Metab Dis
; 31(3): 308-18, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18563632
8.
Leukoencephalopathies associated with inborn errors of metabolism in adults.
J Inherit Metab Dis
; 31(3): 295-307, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18344012
9.
[New insights in inborn errors of metabolism are leading to new paradigms in child neurology]. / Nuevos conocimientos sobre errores congenitos del metabolismo estan dando lugar a nuevos paradigmas en neuropediatria.
Rev Neurol
; 66(s02): S37-S42, 2018 06 05.
Artigo
em Espanhol
| MEDLINE | ID: mdl-29876911
10.
Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.
J Clin Invest
; 91(3): 1247-52, 1993 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-8450053
11.
Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy.
J Clin Invest
; 94(2): 526-31, 1994 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-8040306
12.
Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.
J Clin Invest
; 87(3): 859-64, 1991 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-1999498
13.
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).
J Clin Invest
; 91(3): 1095-8, 1993 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-8383698
14.
Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.
J Clin Invest
; 93(4): 1740-7, 1994 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-8163672
15.
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.
J Clin Invest
; 102(7): 1286-91, 1998 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-9769320
16.
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.
J Clin Invest
; 86(5): 1601-8, 1990 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-2243133
17.
Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.
J Clin Invest
; 100(4): 802-7, 1997 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-9259578
18.
Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: a diagnostic approach.
J Inherit Metab Dis
; 30(6): 855-64, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17957490
19.
Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults.
J Inherit Metab Dis
; 30(5): 631-41, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17694356
20.
Epilepsy and inborn errors of metabolism in adults: a diagnostic approach.
J Inherit Metab Dis
; 30(6): 846-54, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17957491