Y. Nordmann

H. de Verneuil, V. Da Silva, Y. Nordmann, 1993, European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies.

An unusual case of variegate porphyria with possible homozygous inheritance.

Y. Nordmann, J. Coakley, N. Crinis, 1990, Australian and New Zealand journal of medicine.

Homozygous variegate porphyria A severe skin disease of Infancy

Y. Nordmann, R. Norio, R. Tenhunen, 1987, Clinical genetics.

HOMOZYGOUS VARIEGATE PORPHYRIA

J. Zeman, P. Martásek, Y. Nordmann, 1984, The Lancet.

Decreased lymphocyte coproporphyrinogen III oxidase activity in hereditary coproporphyria.

B. Grandchamp, Y. Nordmann, Yves Nordmahn, 1977, Biochemical and biophysical research communications.

Some kinetic properties of human red cell uroporphyrinogen decarboxylase.

B. Grandchamp, H. de Verneuil, Y. Nordmann, 1980, Biochimica et biophysica acta.

The mitochondrial location of protoporphyrinogen oxidase.

J. Deybach, B. Grandchamp, Y. Nordmann, 1985, European journal of biochemistry.

Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria

P. Siersema, B. Grandchamp, Y. Nordmann, 1992, Human Genetics.

Prevalence of the 281 (Gly→Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda

B. Grandchamp, G. Elder, Y. Nordmann, 2004, Human Genetics.

Studies of porphyrin synthesis in fibroblasts of patients with congenital erythropoietic porphyria and one patient with homozygous coproporphyria.

J. Deybach, B. Grandchamp, H. de Verneuil, 1980, Biochimica et biophysica acta.

Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria

J. Deybach, H. Puy, Y. Nordmann, 1998, Human Genetics.

Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.

J. Deybach, L. Gouya, H. Puy, 1997, American journal of human genetics.

Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase

L. Peltonen, P. Romeo, B. Grandchamp, 1989, European journal of clinical investigation.

DETECTION OF INTERMITTENT ACUTE PORPHYRIA TRAIT IN CHILDREN

B. Grandchamp, Y. Nordmann, H. Verneuil, 1976, The Lancet.

Harderoporphyria: a variant hereditary coproporphyria.

G. Fontaine, B. Grandchamp, H. de Verneuil, 1983, The Journal of clinical investigation.

The mitochondrial localization of coproporphyrinogen III oxidase.

B. Grandchamp, Y. Nordmann, N. Phung, 1978, The Biochemical journal.

Hereditary coproporphyria: demonstration of a genetic defect in coproporphyrinogen metabolism.

B. Grandchamp, Y. Nordmann, 1978, Monographs in human genetics.

Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk

B. Grandchamp, Y. Nordmann, P. D. Berranger, 1980, Human Genetics.

The spectrophotometric determination of uroporphyrinogen I synthetase activity.

B. Grandchamp, Y. Nordmann, N. Phung, 1976, Clinica chimica acta; international journal of clinical chemistry.

Conjugated effect of light and uroporphyrin on porphobilinogen.

B. Grandchamp, Y. Nordmann, 1976, Biochemical medicine.

A retrospective study of a patient with homozygous form of acute intermittent porphyria

J. Deybach, S. K. Wadman, B. Grandchamp, 1990, Journal of Inherited Metabolic Disease.

DNA POLYMORPHISM OF HUMAN PORPHOBILINOGEN DEAMINASE GENE IN ACUTE INTERMITTENT PORPHYRIA

N. Kalsheker, P. Romeo, P. Harrison, 1987, The Lancet.

Recurrence risk estimation of acute intermittent porphyria based on analysis of porphobilinogen deaminase activity: a Bayesian approach.

C. Bonaïti‐pellié, Y. Nordmann, L. Phung, 1984, American journal of medical genetics.

Coexistent hereditary coproporphyria and congenital erythropoietic porphyria (Günther disease)

Y. Nordmann, J. Deybach, D. Amram, 1990, Journal of Inherited Metabolic Disease.

Muscle type isoenzymes of liver aldolase in hepatomas.

Y. Nordmann, F. Schapira, 1967, European journal of cancer.

Resurgence of Two Fetal Type Aldolases in Hepatoma

A. Hatzfeld, Y. Nordmann, F. Schapira, 1971 .

A shift of liver aldolase towards the muscle type in hepatoma: immunological study.

Y. Nordmann, 1969, European journal of cancer.

Hereditary alterations of fructose metabolizing enzymes. Studies on essential fructosuria and on hereditary fructose intolerance.

Y. Nordmann, F. Schapira, C. Grégori, 2009, Acta medica Scandinavica. Supplementum.

Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria

S. K. Wadman, B. Grandchamp, Y. Nordmann, 1990, Journal of Inherited Metabolic Disease.

High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.

F. D. de Rooij, B. Grandchamp, Y. Nordmann, 1992, American journal of human genetics.

Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.

J. Deybach, L. Gouya, H. Puy, 1999, Blood.

Ferritin synthesis in differentiating Friend erythroleukemic cells.

S. Jain, C. Beaumont, Y. Nordmann, 1987, The Journal of biological chemistry.

Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.

C. Beaumont, J. Deybach, L. Gouya, 1996, American journal of human genetics.

Improving body composition and physical activity in Prader-Willi Syndrome.

Y. Nordmann, U. Eiholzer, K. Kromeyer-Hauschild, 2003, The Journal of pediatrics.

[Allogeneic bone marrow transplantation in congenital erythropoietic porphyria. Gunther's disease].

C. Ged, H. de Verneuil, Y. Nordmann, 1998, Annales de dermatologie et de venereologie.

Correction of congenital erythropoietic porphyria by bone marrow transplantation.

C. Ged, H. de Verneuil, Y. Nordmann, 1996, The Journal of pediatrics.

Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria.

C. Beaumont, H. de Verneuil, Y. Nordmann, 1984, American journal of human genetics.

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.

B. Schäfer, X. Schneider-Yin, J. Deybach, 1998, American journal of human genetics.

A structurally modified liver aldolase in fructose intolerance: immunological and kinetic evidence.

Y. Nordmann, J. Dreyfus, F. Schapira, 1968, Biochemical and biophysical research communications.

Congenital Erythropoietic Porphyria: Prenatal Diagnosis and Autopsy Findings in Two Sibling Fetuses

M. Gubler, Y. Nordmann, F. Muller, 2001, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Coproporphyrin in urine of newborns with meconium aspiration syndrome.

H. de Verneuil, Y. Nordmann, M. Dehan, 1983, Clinical chemistry.

Enzymes of the heme biosynthesis pathway: recent advances in molecular genetics.

B. Grandchamp, Y. Nordmann, 1988, Seminars in hematology.

Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).

B. Grandchamp, H. de Verneuil, Y. Nordmann, 1991, Current problems in dermatology.

Radiological features in congenital erythropoietic porphyria (Gunther's disease)

P. Legmann, Y. Nordmann, A. L. Cloirec, 2006, Pediatric Radiology.

Congenital erythropoietic porphyria (Günther's disease): enzymatic studies on two cases of late onset.

H. de Verneuil, Y. Nordmann, A. Puissant, 1981, The Journal of laboratory and clinical medicine.

5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up.

K. Jacob, Y. Nordmann, S. Sassa, 1998, Clinical chemistry.

Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene.

J. Deybach, B. Grandchamp, H. de Verneuil, 1991, Biochemical and biophysical research communications.

Molecular characterization of homozygous variegate porphyria.

J. Deybach, H. Puy, P. Martásek, 1998, Human molecular genetics.

[Gunther's congenital erythropoietic porphyria and carotenoids. Therapeutic attempt of 4 years].

Y. Nordmann, J. Maleville, G. Guillet, 1982, Annales de dermatologie et de venereologie.

[Coexistence of hereditary coproporphyria and porphyria cutanea tarda: a new form of dual porphyria].

J. Deybach, H. Puy, K. Jacob, 2002, Medizinische Klinik.

Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update

F. D. de Rooij, L. Gouya, H. Puy, 1999, Human mutation.

Familial and sporadic porphyria cutanea

Y. Nordmann, H. Verneuil, G. Aitken, 1978, Human Genetics.

Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.

F. D. de Rooij, J. Deybach, B. Grandchamp, 1991, American journal of human genetics.

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.

J. Deybach, H. Puy, Y. Nordmann, 1999, Molecular and cellular probes.

[Bone anomalies in Gunther's disease].

M. Audran, Y. Nordmann, J. Renier, 1990, Revue du rhumatisme et des maladies osteo-articulaires.

Accumulation of porphobilinogen deaminase, uroporphyrinogen decarboxylase, and alpha- and beta-globin mRNAs during differentiation of mouse erythroleukemic cells. Effects of succinylacetone.

C. Beaumont, B. Grandchamp, H. de Verneuil, 1985, The Journal of biological chemistry.

[Hepatic porphyrias and drugs].

H. Puy, Y. Nordmann, J. Deybach, 1994, Gastroenterologie clinique et biologique.

[Enzymatic anomalies and human nephropathies].

Y. Nordmann, M. Broyer, P. Royer, 1967, Pathologie et biologie.

Nitric oxide synthase inhibition and the induction of cytochrome P-450 affect heme oxygenase-1 messenger RNA expression after partial hepatectomy and acute inflammation in rats.

J. Lebreton, J. Deybach, H. Puy, 1998, Critical care medicine.

Hereditary hepatic porphyria with delta aminolevulinate dehydrase deficiency: Immunologic characterization of the non-catalytic enzyme

C. Beaumont, Y. Nordmann, H. Verneuil, 2004, Human Genetics.

Assignment of the gene for uroporphyrinogen decarboxylase to human chromosome 1 by somatic cell hybridization and specific enzyme immunoassay

M. Gross, D. Weil, B. Grandchamp, 2004, Human Genetics.

Assignment of the human gene for δ aminolevulinate dehydrase to chromosome 9 by somatic cell hybridization and specific enzyme immunoassay

M. Gross, V. C. N'guyen, D. Weil, 1984, Annals of human genetics.

EFFECT OF GLUTEN-CONTAINING DIET ON SERUM ZONULIN AND INTESTINAL PERMEABILITY IN TYPE 1 DIABETES CHILDREN AND THEIR RELATIVES: 209

G. Coppa, A. Fasano, L. Zampini, 2005 .

Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.

F. D. de Rooij, J. Deybach, B. Grandchamp, 1990, The Journal of clinical investigation.

[Biological diagnosis of porphyria cutanea tarda].

Y. Nordmann, 2000, Annales de dermatologie et de venereologie.

Identification of a Prevalent Nonsense Mutation (W283X) and Two Novel Mutations in the Porphobilinogen Deaminase Gene of Swiss Patients with Acute Intermittent Porphyria

X. Schneider-Yin, J. Deybach, E. Minder, 2000, Human Heredity.

Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria.

F. D. de Rooij, B. Grandchamp, W. Lissens, 1993, Human molecular genetics.

Molecular cloning of a cDNA sequence complementary to porphobilinogen deaminase mRNA from rat.

P. Romeo, B. Grandchamp, Y. Nordmann, 1984, Proceedings of the National Academy of Sciences of the United States of America.

Denaturing gradient gel electrophoresis for rapid detection of latent carriers of a subtype of acute intermittent porphyria with normal erythrocyte porphobilinogen deaminase activity.

F. D. de Rooij, J. Deybach, B. Grandchamp, 1992, Clinical chemistry.

Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis.

J. Deybach, L. Gouya, H. Puy, 1998, Blood.

Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.

B. Grandchamp, P. Martásek, Y. Nordmann, 1994, Human molecular genetics.

Compound Heterozygous Hereditary Coproporphyria with Fluorescing Teeth

N. Sepp, K. Jacob, Y. Nordmann, 1999, Annals of clinical biochemistry.

A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.

B. Grandchamp, P. Martásek, V. Da Silva, 1995, Human molecular genetics.

Acute intermittent porphyria: rapid molecular diagnosis.

J. Deybach, H. Puy, Y. Nordmann, 1997, Cellular and molecular biology.

Detection of four novel mutations in the porphobilinogen deaminase gene in French Caucasian patients with acute intermittent porphyria.

H. Puy, Y. Nordmann, J. Lamoril, 1996, Human heredity.

Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene.

J. Deybach, H. Puy, Y. Nordmann, 1996, Biochemical and biophysical research communications.

Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.

J. Deybach, H. Puy, B. Grandchamp, 1996, Human molecular genetics.

Homozygous variegate pophyria: revision of a diagnostic error

J. Deybach, Y. Nordmann, G. Biolcati, 1991, The British journal of dermatology.

Three novel mutations in the coproporphyrinogen oxidase gene

J. Deybach, H. Puy, B. Grandchamp, 1997, Human mutation.

Hereditary coproporphyria: demonstration of a genetic defect in coproporphyrinogen metabolism.

B. Grandchamp, Y. Nordmann, 1978, Monographs in human genetics.

A molecular, enzymatic and clinical study in a family with hereditary coproporphyria

H. Puy, Y. Nordmann, J. Lamoril, 2002, Journal of Inherited Metabolic Disease.

Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.

H. Puy, K. Jacob, P. Martásek, 2002, Cellular and Molecular Biology.

Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis.

J. Deybach, L. Gouya, H. Puy, 1999, Clinica chimica acta; international journal of clinical chemistry.

[Porphyrins and idiopathic hemochromatosis. Study of 32 cases (author's transl)].

M. Simon, P. Brissot, M. Bourel, 1978, Gastroenterologie clinique et biologique.

Cell-free translation of human uroporphyrinogen decarboxylase mRNAs.

P. Romeo, B. Grandchamp, H. de Verneuil, 1984, Biochemical and Biophysical Research Communications - BBRC.

Occurrence of hepatocellular carcinoma in a case of hereditary coproporphyria.

H. Puy, Y. Nordmann, C. Andant, 1997, The American journal of gastroenterology.

[Drug risk of hepatic porphyria. Development of an animal experiment model].

V. Da Silva, Y. Nordmann, J. Deybach, 1987, Presse medicale.

Activity of Aspartate Transcarbamylase in Heart and Liver of the Developing Rat

N. Kretchmer, Y. Nordmann, R. Hurwitz, 1964, Nature.

[Acute attacks of hepatic porphyria. Treatment with hematin. 5 cases].

Y. Nordmann, R. Tenhunen, M. Cerf, 1986, Presse medicale.