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Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency

Molecular genetics and metabolism, 2002-11, Vol.77 (3), p.195-201

2002

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Hyperinsulinism and Hyperammonemia in Infants with Regulatory Mutations of the Glutamate Dehydrogenase Gene

The New England journal of medicine, 1998-05, Vol.338 (19), p.1352-1357

1998

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Effects of a GTP-insensitive Mutation of Glutamate Dehydrogenase on Insulin Secretion in Transgenic Mice

The Journal of biological chemistry, 2006-06, Vol.281 (22), p.15064-15072

2006

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Fasting Hypoketotic Coma in a Child with Deficiency of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase

The New England journal of medicine, 1997-10, Vol.337 (17), p.1203-1207

1997

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Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: Predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene

Diabetes (New York, N.Y.), 2000-04, Vol.49 (4), p.667

2000

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Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase

The journal of clinical endocrinology and metabolism, 2001-04, Vol.86 (4), p.1782-1787

2001

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Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome

The Journal of pediatrics, 2001-03, Vol.138 (3), p.383-389

2001

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Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations

Biochemical journal, 2002-04, Vol.363 (Pt 1), p.81-87

2002

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Sudden neonatal death in carnitine transporter deficiency

The Journal of pediatrics, 1997-08, Vol.131 (2), p.304-305

1997

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Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency : Clinical course and description of causal mutations in two patients

Pediatric research, 2001-03, Vol.49 (3), p.326-331

2001

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Aberrant mRNA Splicing Associated with Coding Region Mutations in Children with Carnitine-Acylcarnitine Translocase Deficiency

Molecular genetics and metabolism, 2001-09, Vol.74 (1-2), p.248-255

2001

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Addendum to “Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency” [Mol. Genet. Metab. 77 (2002) 195–201]

Molecular genetics and metabolism, 2003-01, Vol.78 (1), p.82

2003

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Molecular Basis and Characterization of the Hyperinsulinism/Hyperammonemia Syndrome

Diabetes (New York, N.Y.), 2000-04, Vol.49 (4), p.667-667

2000

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Carnitine effects on coenzyme A profiles in rat liver with hypoglycin inhibition of multiple dehydrogenases

American journal of physiology: endocrinology and metabolism, 1997-03, Vol.272 (3), p.E359-E366

1997

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Renal brush border membrane lipid composition in Basenji dogs with spontaneous idiopathic Fanconi syndrome

Metabolism, clinical and experimental, 1994-09, Vol.43 (9), p.1073-1078

1994

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Membrane fluidity and sodium transport by renal membranes from dogs with spontaneous idiopathic Fanconi syndrome

Metabolism, clinical and experimental, 1992-03, Vol.41 (3), p.253-259

1992

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l-Cystine transport by papain-treated rat renal brush-border membrane vesicles

Biochimica et biophysica acta, 1986-07, Vol.859 (1), p.79-87

1986

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Characteristics of L-proline and sodium transport in renal brush border membranes isolated from 7-day-old and adult rats

Bioscience reports, 1989-12, Vol.9 (6), p.709-719

1989

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Assessment of binding of l-cystine and l-lysine by rat renal brush-border membranes

Biochimica et biophysica acta, 1986-12, Vol.863 (2), p.332-336

1986

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Absence of a role of gamma-glutamyl transpeptidase in the transport of amino acids by rat renal brushborder membrane vesicles

The Journal of membrane biology, 1984, Vol.80 (2), p.167-173

1984

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First prenatal diagnosis of the carnitine transporter defect

American journal of medical genetics, 1996-12, Vol.66 (1), p.21-24

1996

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Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency

Hyperinsulinism and Hyperammonemia in Infants with Regulatory Mutations of the Glutamate Dehydrogenase Gene

Effects of a GTP-insensitive Mutation of Glutamate Dehydrogenase on Insulin Secretion in Transgenic Mice

Fasting Hypoketotic Coma in a Child with Deficiency of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase

Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: Predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene

Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase

Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome

Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations

Sudden neonatal death in carnitine transporter deficiency

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency : Clinical course and description of causal mutations in two patients

Aberrant mRNA Splicing Associated with Coding Region Mutations in Children with Carnitine-Acylcarnitine Translocase Deficiency

Addendum to “Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency” [Mol. Genet. Metab. 77 (2002) 195–201]

Molecular Basis and Characterization of the Hyperinsulinism/Hyperammonemia Syndrome

Carnitine effects on coenzyme A profiles in rat liver with hypoglycin inhibition of multiple dehydrogenases

Renal brush border membrane lipid composition in Basenji dogs with spontaneous idiopathic Fanconi syndrome

Membrane fluidity and sodium transport by renal membranes from dogs with spontaneous idiopathic Fanconi syndrome

l-Cystine transport by papain-treated rat renal brush-border membrane vesicles

Characteristics of L-proline and sodium transport in renal brush border membranes isolated from 7-day-old and adult rats

Assessment of binding of l-cystine and l-lysine by rat renal brush-border membranes

Absence of a role of gamma-glutamyl transpeptidase in the transport of amino acids by rat renal brushborder membrane vesicles

First prenatal diagnosis of the carnitine transporter defect

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