M. T. Zabot

发表

Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients.

P. Divry, C. Roe, C. Vianey‐Saban, 1998, Clinica chimica acta; international journal of clinical chemistry.

Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency: aspects of substrate specificity and correlation with clinical phenotype.

C. Roe, C. Vianey‐Saban, D. Roe, 2001, Clinica chimica acta; international journal of clinical chemistry.

Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts.

C. Vianey‐Saban, M. Zabot, C. Largillière, 1993, Biochimica et biophysica acta.

A new case of hyperlysinaemia with saccharopinuria

M. Rolland, P. Divry, C. Vianey-Liaud, 1986, Journal of Inherited Metabolic Disease.

Steroid sulphatase deficiency. Steroid sulphatase and arylsulphatase C determination in normal and affected fibroblasts.

I. Maire, M. Piraud, M. T. Zabot, 1984, Journal of inherited metabolic disease.

The place of fetal liver transplantation in the treatment of inborn errors of metabolism

E. Goillot, M. Rolland, C. Pouteil‐Noble, 1991, Journal of Inherited Metabolic Disease.

Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.

K. Kristiansen, P. Bross, B. Andresen, 1996, Human molecular genetics.

In utero transplantation of stem cells in humans: immunological aspects and clinical follow-up of patients.

D. Frappaz, M. Roncarolo, F. Freycon, 1992, Bone marrow transplantation.

5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome

P. Divry, L. Hagenfeldt, A. Larsson, 1991, Journal of Inherited Metabolic Disease.

β-Glucuronidase deficiency: Enzyme studies in an affected family and prenatal diagnosis

I. Maire, P. Guibaud, M. Mathieu, 1979, Journal of Inherited Metabolic Disease.

[Value of skin fibroblasts in culture for the diagnosis of mitochondrial cell dysfunction. Apropos of 5 cases with cytochrome c oxidase deficiency].

B. Echenne, M. Rimoldi, I. Maire, 1993, Pediatrie.

Fetal liver transplantation: biology and clinical results.

M. Roncarolo, R. Bacchetta, D. Raudrant, 1993, Bone marrow transplantation.

Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia

P. Divry, D. Floret, M. Mathieu, 1993, European Journal of Pediatrics.

X-linked recessive ichthyosis. Enzymatic diagnosis of affected males and female carriers.

I. Maire, M. Piraud, M. T. Zabot, 1989, Enzyme.

[Beta-ketothiolase deficiency: a case of ketoacidosis with hyperglycinemia].

M. Rolland, P. Divry, R. Middleton, 1992, Pediatrie.

Infantile form of carnitine palmitoyltransferase II deficiency in a girl with rapid fatal onset

P. Divry, N. Stremler, O. Paut, 1995, Journal of Inherited Metabolic Disease.