J. Rey

发表

Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.

A. Munnich, S. Lyonnet, C. Caillaud, 1991, American journal of human genetics.

The toxic fraction of gliadin digests in coeliac disease. Isolation by chromatography on Biogel P-10.

J. Jos, J. Mossé, J. Rey, 1982, Clinica chimica acta; international journal of clinical chemistry.

[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.

In vitro pathogenetic studies of coeliac disease. Effects of protein digests on coeliac intestinal biopsy specimens maintained in culture for 48 hours.

G. Lenoir, J. Jos, J. Rey, 1975, Scandinavian journal of gastroenterology.

Genetics of disorders of intestinal digestion and absorption.

J. Frézal, J. Rey, 1970, Advances in human genetics.

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.

CpG dinucleotides are mutation hot spots in phenylketonuria.

A. Munnich, S. Lyonnet, C. Caillaud, 1989, Genomics.

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.

Genetic background of clinical homogeneity of phenylketonuria in Poland.

A. Munnich, S. Lyonnet, J. Filipowicz, 1993, Journal of medical genetics.

Molecular basis of phenylketonuria in France

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

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.

[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.

[Modifications of plasma lipids in disorders of intestinal absorption in children].

J. Frézal, J. Polonovski, M. Lamy, 1965, Revue francaise d'etudes cliniques et biologiques.

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.

Histochemical Localization of Intestinal Disaccharidases: Application to Peroral Biopsy Specimens

J. Frézal, M. Lamy, J. Jos, 1967, Nature.

Congenital absence of beta-lipoproteins.

J. Frézal, J. Polonovski, M. Lamy, 1961, Pediatrics.

INTESTINAL GLYCOSIDASE ACTIVITIES IN CONGENITAL MALABSORPTION OF DISACCHARIDES.

A. Prader, J. Frézal, S. Auricchio, 1965, The Journal of pediatrics.

INTESTINAL DISACCHARIDASE ACTIVITY IN CONGENITAL MALABSORPTION OF SUCROSE AND ISOMALTOSE.

A. Prader, J. Frézal, S. Auricchio, 1964, Lancet.

GUTHRIE CARDS FOR DETECTION OF POINT MUTATIONS IN PHENYLKETONURIA

A. Munnich, S. Lyonnet, J. Frézal, 1988, The Lancet.

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.

[In vitro intestinal cytotoxicity of various fractions from gliadin or cows's milk proteins in children: quantitative assessment by a morphometric method].

J. Schmitz, J. Jos, J. Rey, 1982, Gastroenterologie clinique et biologique.

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

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

Diarrhoea caused by impaired intestinal hydrolysis of sucrose, maltose and isomaltose.

J. Frézal, M. Lamy, J. Jos, 1963 .

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

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

Disaccharide malabsorption.

J. Frézal, M. Lamy, J. Rey, 1968, Bibliotheca paediatrica.

Disaccharidase anomalies. General review.

J. Frézal, J. Rey, 1967 .

[The frequency of congenital malformations].

J. Frézal, M. Lamy, J. Rey, 1961, Annales de pediatrie.

[Biopsy of the intestinal mucosa in children. Initial results of a study of the malabsorption syndromes].

J. Frézal, M. Lamy, C. Nezelof, 1963, La Presse medicale.

[Acanthocytosis. Its relations to the congenital absence of beta-lipoproteins].

J. Frézal, J. Polonovski, M. Lamy, 1961, La Presse medicale.

[Congenital absence of pancreatic lipase].

J. Frézal, M. Lamy, J. Rey, 1966, Archives francaises de pediatrie.

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.

[Erythroderma ichthyosiforme of the newborn (apropos of 4 cases of congenital ichthyosis)].

J. Frézal, M. Lamy, C. Nezelof, 1962, Archives francaises de pediatrie.

[On a case of xanthinuria].

C. Roy, J. Frézal, M. Lamy, 1967, Archives francaises de pediatrie.

[Heredity of diabetes mellitus].

J. Frézal, M. Lamy, J. Rey, 1961, Journees annuelles de diabetologie de l'Hotel-Dieu.

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.