F. Rey

发表

[Hyperphenylalaninaemia with normal phenylalanine-hydroxylase activity and a deficiency of tetrahydrobiopterin and dihydropteridine reductase].

J. Aicardi, J. Harpey, J. Blair, 1977, Archives francaises de pediatrie.

Intraluminal and Mucosal Starch Digestion in Congenital Deficiency of Intestinal Sucrase and Isomaltase Activities

F. Ciccimarra, J. Jos, J. Rey, 1972, Pediatric Research.

Atypical phenylketonuria with normal dihydropteridine reductase activity.

J. Rey, F. Rey, F. Blandin-Savoja, 1976, The New England journal of medicine.

Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria

P. Bénit, A. Munnich, D. Melle, 1994, Human mutation.

Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus

S. Lyonnet, J. Frézal, J. Saudubray, 1991, Human Genetics.

Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

A. Munnich, S. Lyonnet, J. Frézal, 1989, American journal of human genetics.

Biopterin defect in a normal-appearing child affected by a transient phenylketonuria.

J. Blair, R. Leeming, J. Rey, 1980, Archives of disease in childhood.

Kinetics of Phenylalanine Disappearance after Intravenous Load in Phenylketonuria and Its Genetic Variants

J. Rey, F. Rey, F. Blandin-Savoja, 1979, Pediatric Research.

Molecular basis of phenylketonuria in France

A. Munnich, S. Lyonnet, C. Caillaud, 1993 .

Origins of Hyperphenylalaninemia in Israel

A. Munnich, Y. Shiloh, S. Avigad, 1994, European journal of human genetics : EJHG.

The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency.

P. Bénit, A. Munnich, V. Abadie, 1999, Molecular genetics and metabolism.

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France.

A. Munnich, S. Lyonnet, J. Frézal, 1988, American journal of human genetics.

Phenylalanine hydroxylase. Evidence that the enzyme from human liver might not be a phosphoprotein.

J. Abita, F. Rey, F. Blandin-Savoja, 1983, Biochemistry international.

[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene].

A. Munnich, S. Lyonnet, J. Saudubray, 1992, Archives francaises de pediatrie.

Long-term follow up of patients with classical phenylketonuria after diet relaxation at 5 years of age

V. Abadie, J. Rey, F. Rey, 2009, European Journal of Pediatrics.

Influence of flow rate on the kinetics of the intestinal absorption of glucose and lysine in children.

J. Schmitz, J. Rey, F. Rey, 1974, Gastroenterology.

Phenylalanine 4-monooxygenase from human liver.

J. Abita, F. Rey, F. Blandin-Savoja, 1987, Methods in enzymology.

Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update.

A. Munnich, J. Frézal, J. Saudubray, 1984, Journal of inherited metabolic disease.

Neonatal management of organic acidurias: clinical update

A. Munnich, J. Frézal, F. Coudé, 1984 .

Hudson memorial lecture

J. Frézal, J. Saudubray, F. Coudé, 1984, Journal of Inherited Metabolic Disease.

SECTION I: CLINICAL ASPECTS: MANAGEMENT AND OUTCOME

J., A. Munnich, J. Frézal, 2009 .

Hormonal control of phenylalanine hydroxylase activity in isolated rat hepatocytes.

J. Abita, G. Rosselin, H. Chamras, 1980, Biochemical and biophysical research communications.

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

P. Guldberg, I. Dianzani, V. Romano, 1998, American journal of human genetics.

Cellular differentiation and enzymatic deficits.

J. Schmitz, J. Jos, J. Rey, 1971, Lancet.

Maple syrup urine disease: Two different forms within a single family

J. Frézal, J. Saudubray, O. Amédée-Manesme, 2004, Human Genetics.

Influence of Age on ortho-Hydroxyphenylacetic Acid Excretion in Phenylketonuria and Its Genetic Variants

J. Frézal, C. Pellié, J. Rey, 1974, Pediatric Research.

Neuropsychologic Functions of Early Treated Patients with Phenylketonuria, on and off Diet: Results of a Cross-National and Cross-Sectional Study

A. Rupp, P. Burgard, V. Abadie, 1997, Pediatric Research.

Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.

A. Munnich, S. Lyonnet, P. Millasseau, 1993, Human Molecular Genetics.