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Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type of Mutation

American journal of human genetics, 1999-10, Vol.65 (4), p.984-994

1999

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

Human molecular genetics, 1994-03, Vol.3 (3), p.477-480

1994

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Erythropoietic protoporphyria and hepatic complications

Journal of hepatology, 1992, Vol.16 (1), p.4-6

Nordmann, Yves

1992

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Human hereditary hepatic porphyrias

Clinica Chimica Acta, 2002-11, Vol.325 (1), p.17-37

2002

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Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase gene

Biochemical and biophysical research communications, 1991-12, Vol.181 (2), p.594-599

1991

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Three novel mutations in the coproporphyrinogen oxidase gene

Human mutation, 1997, Vol.9 (1), p.78-80

1997

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Ferrochelatase Structural Mutant ( Fech m1Pas) in the House Mouse

Genomics (San Diego, Calif.), 1993-06, Vol.16 (3), p.645-648

1993

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Improving body composition and physical activity in Prader-Willi Syndrome

The Journal of pediatrics, 2003-01, Vol.142 (1), p.73-78

2003

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Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors

Journal of hepatology, 2000-06, Vol.32 (6), p.933-939

2000

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Inheritance in Erythropoietic Protoporphyria: A Common Wild-Type Ferrochelatase Allelic Variant With Low Expression Accounts for Clinical Manifestation

Blood, 1999-03, Vol.93 (6), p.2105-2110

1999

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Sudden death of an infant with Prader-Willi syndrome: Not a unique case?

Biology of the neonate, 2002-01, Vol.82 (2), p.139-141

2002

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Early manifestations of Prader-Willi syndrome: influence of growth hormone

Journal of pediatric endocrinology & metabolism : JPEM, 2001, Vol.14 Suppl 6, p.1441

2001

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Epidemiology of hepatitis C and G in sporadic and familial porphyria cutanea tarda

Hepatology (Baltimore, Md.), 1998-03, Vol.27 (3), p.848-852

1998

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Molecular characterization of homozygous variegate porphyria

Human molecular genetics, 1998-11, Vol.7 (12), p.1921-1925

1998

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Correction of congenital erythropoietic porphyria by bone marrow transplantation

The Journal of pediatrics, 1996-09, Vol.129 (3), p.453-456

1996

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

Clinical chemistry (Baltimore, Md.), 1998-09, Vol.44 (9), p.1892-1896

1998

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Mutations in the Protoporphyrinogen Oxidase Gene in Patients with Variegate Porphyria

Human molecular genetics, 1996-03, Vol.5 (3), p.407-410

1996

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Erythropoietic protoporphyria in the house mouse : a recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease

The Journal of clinical investigation, 1991-11, Vol.88 (5), p.1730-1736

1991

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Increased delta aminolevulinic acid and decreased pineal melatonin production. A common event in acute porphyria studies in the rat

The Journal of clinical investigation, 1996-01, Vol.97 (1), p.104-110

1996

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

Human genetics, 1998-11, Vol.103 (5), p.570-575

1998

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Occurrence of hepatocellular carcinoma in a case of hereditary coproporphyria

The American journal of gastroenterology, 1997-08, Vol.92 (8), p.1389-1390

1997

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Review: Molecular pathogenesis of hepatic acute porphyrias

Journal of gastroenterology and hepatology, 1996-11, Vol.11 (11), p.1046-1052

1996

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

Human molecular genetics, 1995-02, Vol.4 (2), p.275-278

1995

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

Human heredity, 2000-07, Vol.50 (4), p.247-250

2000

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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

Critical care medicine, 1998-10, Vol.26 (10), p.1683-1689

1998

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Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type of Mutation

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

Erythropoietic protoporphyria and hepatic complications

Human hereditary hepatic porphyrias

Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase gene

Three novel mutations in the coproporphyrinogen oxidase gene

Ferrochelatase Structural Mutant ( Fech m1Pas) in the House Mouse

Improving body composition and physical activity in Prader-Willi Syndrome

Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors

Inheritance in Erythropoietic Protoporphyria: A Common Wild-Type Ferrochelatase Allelic Variant With Low Expression Accounts for Clinical Manifestation

Sudden death of an infant with Prader-Willi syndrome: Not a unique case?

Early manifestations of Prader-Willi syndrome: influence of growth hormone

Epidemiology of hepatitis C and G in sporadic and familial porphyria cutanea tarda

Molecular characterization of homozygous variegate porphyria

Correction of congenital erythropoietic porphyria by bone marrow transplantation

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

Mutations in the Protoporphyrinogen Oxidase Gene in Patients with Variegate Porphyria

Erythropoietic protoporphyria in the house mouse : a recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease

Increased delta aminolevulinic acid and decreased pineal melatonin production. A common event in acute porphyria studies in the rat

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

Occurrence of hepatocellular carcinoma in a case of hereditary coproporphyria

Review: Molecular pathogenesis of hepatic acute porphyrias

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

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

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

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