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  1. No Access

    Article

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

    A 30-year-old woman suffered from acute crises with abdominal, neurological and psychiatric complaints. Urinary haem precursors and faecal porphyrins were excessively elevated compared to the upper level of th...

    U. Gross, H. Puy, U. Meissauer, J. Lamoril… in Journal of Inherited Metabolic Disease (2002)

  2. No Access

    Article

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

    F. Daïkha-Dahmane, M. Dommergues, F. Narcy… in Pediatric and Developmental Pathology (2001)

  3. No Access

    Article

    Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms

    Acute intermittent porphyria (AIP), the most common acute hepatic porphyria, is a low-penetrant autosomal dominant disorder caused by mutations in the porphobilinogen deaminase (PBGD) or hydroxymethylbilane synt...

    A.M. Robreau-Fraolini, H. Puy, C. Aquaron, C. Bogard, M. Traore… in Human Genetics (2000)

  4. No Access

    Chapter

    Porphyrias

    The porphyrias are a group of inherited disorders of heme biosynthesis [1, 2]. Each enzyme defect (Table 1) produces a specific pattern of overproduction of intermediates of the pathway, associated with charac...

    Y. Nordmann in Inborn Metabolic Diseases (1995)

  5. No Access

    Article

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

    The molecular abnormalities responsible for acute intermittent porphyria were investigated in both parents of a girl who was retrospectively diagnosed as having a homozygous form of the disease. The mutations ...

    C. Picat, M. H. Delfau, F. W. M. de Rooij… in Journal of Inherited Metabolic Disease (1990)

  6. No Access

    Article

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

    In 1964 a child with an exceptional form of porphyria was described; she excreted persistently excessive amounts of delta-aminolaevulinic acid, porphobilinogen and uroporphyrin in her urine from early childhoo...

    G. J. J. Beukeveld, B. G. Wolthers, Y. Nordmann… in Journal of Inherited Metabolic Disease (1990)

  7. No Access

    Article

    Coexistent hereditary coproporphyria and congenital erythropoietic porphyria (Günther disease)

    We present data on one patient with an inheritance pattern for two porphyrias. From her mother she inherited the trait of hereditary coproporphyria; from both parents she inherited the trait of congenital eryt...

    Y. Nordmann, D. Amram, J. C. Deybach, L. N. Phung… in Journal of Inherited Metabolic Disease (1990)

  8. No Access

    Article

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

    Gunther's disease or congenital erythropoïetic porphyria is a rare and severe disorder comprising cutaneous and haemolytic symptoms. Photocutaneous lesions are responsible for scleroderma-like calcifications a...

    M. Levesque, P. Legmann, A. Le Cloirec, J. C. Deybach, Y. Nordmann in Pediatric Radiology (1988)

  9. No Access

    Article

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

    A specific enzyme immunoassay of uroporphyrinogen decarboxylase was developed and applied to the detection of the human enzyme in man-rodent somatic cell hybrids. This method allowed to assign the gene for uro...

    H. de Verneuil, B. Grandchamp, Chantal Foubert, Dominique Weil… in Human Genetics (1984)

  10. No Access

    Article

    Assignment of the human coproporphyrinogen oxidase to chromosome 9

    By using somatic cell hybrids between human fibroblasts and hamster or mouse cells, we have assigned the gene for human coproporphyrinogen oxidase to chromosome 9.

    B. Grandchamp, Dominique Weil, Y. Nordmann, N. Van Cong, H. de Verneuil… in Human Genetics (1983)

  11. No Access

    Article

    Assignment of human uroporphyrinogen I synthase locus to region 11qter by gene dosage effect

    Recently Meisler et al. (1980) reported the results of mouse/human somatic cell hybrid studies which indicated that the locus for human uroporphyrinogen I synthase (UPS) (EC 4.3.1.8) maps to chromosome 11. To ...

    H. de Verneuil, N. Phung, Y. Nordmann, D. Allard, F. Leprince, H. Jérome… in Human Genetics (1982)

  12. No Access

    Article

    The inherited enzymatic defect in porphyria variegata

    Protoporphyrinogen oxidase activity and ferrochelatase activity have been measured in blood lymphocytes from patients with porphyria variegata, and from some members of the family of one patient; the mean acti...

    J. Ch. Deybach, H. de Verneuil, Y. Nordmann in Human Genetics (1981)

  13. No Access

    Article

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

    Amniotic fluid porphyrins, biosynthesis of porphyrins by amniotic cells, and uroporphyrinogen III cosynthetase were studied after the 17th week of a pregnancy at risk for congenital erythropoietic porphyria (CEP)

    J. Ch. Deybach, B. Grandchamp, Mireille Grelier, Y. Nordmann, J. Boué… in Human Genetics (1980)

  14. No Access

    Article

    Familial and sporadic porphyria cutanea

    Uroporphyrinogen (URO) decarboxylase was measured in hemoglobin-free erythrocytes from subjects with familial porphyria cutanea: the mean activity was about 50% of that found in erythrocytes from normal subjec...

    H. de Verneuil, G. Aitken, Y. Nordmann in Human Genetics (1978)

  15. No Access

    Chapter and Conference Paper

    Hereditary Coproporphyria: Demonstration of a Genetic Defect in Coproporphyrinogen Metabolism

    Coproporphyrinogen III oxidase is a mitochondrial enzyme (E.C. 1.3.3.3.) that catalyzes the conversion of coproporphyrinogen III to protoporphyrinogen IX by decarboxylation and oxidation of two propionyl group...

    Y. Nordmann, B. Grandchamp in Diagnosis and Therapy of Porphyrias and Lead Intoxication (1978)