F. Poggi

发表

Clinical outcome and long-term management of 17 patients with propionic acidaemia

D. Rabier, P. Parvy, P. Kamoun, 1996, European Journal of Pediatrics.

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency

S. Seneca, G. Ponsot, W. Lissens, 1997, Human Genetics.

Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents

D. Millington, C. Roe, A. Legrand, 1996, Journal of Inherited Metabolic Disease.

[Protocol of metabolic investigations in hereditary metabolic diseases].

D. Rabier, P. Kamoun, J. Saudubray, 1994, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.

A. Munnich, R. Wanders, D. Rabier, 1992, Biochemical and biophysical research communications.

Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 cases

C. Bodemer, Y. Prost, J. Saudubray, 1994, The British journal of dermatology.

Autoantibodies in vitiligo.

A. Peserico, C. Betterle, G. Del Prete, 1976, Archives of dermatology.

Human liver pathology in peroxisomal diseases: a review including novel data.

H. Mandel, J. Saudubray, F. Roels, 1993, Biochimie.

Peroxisome mosaicism in the livers of peroxisomal deficiency patients

H. Mandel, R. Wanders, B. Poll-The, 1995, Hepatology.

Cell and tissue heterogeneity in peroxisomal patients

T. Hashimoto, R. Wanders, H. Mandel, 1995 .

Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders.

H. Mandel, B. Poll-The, J. Smeitink, 1995, European journal of cell biology.

Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia.

D. Rabier, P. Parvy, P. Kamoun, 1994, The Journal of pediatrics.

Liver transplantation: new indications in metabolic disorders?

Y. Révillon, D. Rabier, J. Saudubray, 1994, Transplantation proceedings.

Definitive cure of hyperammonemia by liver transplantation in urea cycle defects: report of three cases.

Y. Révillon, D. Rabier, J. Saudubray, 1994, Transplantation Proceedings.

Defect in the X-lipoyl-containing component of the pyruvate dehydrogenase complex in a patient with neonatal lactic acidemia.

W. Lissens, S. Sanderson, J. Lindsay, 1996, Pediatrics.

[Nesidioblastosis and persistent neonatal hyperinsulinism].

C. Sempoux, F. Brunelle, J. Saudubray, 1995, Journees annuelles de diabetologie de l'Hotel-Dieu.

Continuous venovenous haemodiafiltration in the acute phase of neonatal maple syrup urine disease

D. Rabier, J. Saudubray, P. Jouvet, 1997, Journal of Inherited Metabolic Disease.

Aberrant Splicing of Exon 6 in the Pyruvate Denydrogenase-Elα mRNA Linked to a Silent Mutation in a Large Family with Leigh's Encephalomyelopathy

D. Rodriguez, G. Ponsot, W. Lissens, 1994, Pediatric Research.

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency.

S. Seneca, L. de Meirleir, G. Ponsot, 1997, Human genetics.

Partial or near‐total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role

Jaubert, Brunelle, Rahier, 1998, Histopathology.

Do criteria exist from urinary organic acids to distinguish β-oxidation defects?

D. Rabier, P. Parvy, P. Kamoun, 1995, Journal of Inherited Metabolic Disease.

Contribution of odd-chain fatty acid oxidation to propionate production in disorders of propionate metabolism.

A. Mariotti, J. Saudubray, G. Thompson, 1994, The American journal of clinical nutrition.