论文信息 - Compound Heterozygous Hereditary Coproporphyria with Fluorescing Teeth

Compound Heterozygous Hereditary Coproporphyria with Fluorescing Teeth

M 0 Doss', U Gross', J Lamoril-, Ch KranP, K Jacob", M Doss', V da Silva-, A G Freesemann', J-Ch Deybach-, N Sepp! and Y Nordmann? From the I Division of Clinical Biochemistry, Philipps University Hospital, Deutschhausstrasse 17~ , 35037 Marburg, Germany, the 2Department ofBiochemistry, Hdpital Louis Mourier, Colombes, France, the 3University Hospital for Dermatology and Venereology, Innsbruck, Austria, and the "Institute of Clinical Chemistry, University Hospital Grosshadern, Munich, Germany

[1] H. de Verneuil,et al. Immunological, enzymatic and biochemical studies of uroporphyrinogen III-synthase deficiency in 20 patients with congenital erythropoietic porphyria. , 1998, European journal of biochemistry.

[2] J. Deybach,et al. Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria. , 1997, American journal of human genetics.

[3] B. Grandchamp,et al. A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria. , 1995, Human molecular genetics.

[4] K. Jacob,et al. Ion-pair-reversed-phase high-performance liquid chromatographic determination of porphyrins from red blood cells , 1982 .

[5] B. Grandchamp,et al. Hereditary coproporphyria: demonstration of a genetic defect in coproporphyrinogen metabolism. , 1978, Monographs in human genetics.

[6] M. Doss. B. Porphyrins and Porphyrin Precursors , 1974 .

[7] K. Jacob,et al. Excretion Pattern of Faecal Coproporphyrin Isomers I—IV in Human Porphyrias , 1995, European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies.

[8] K. Jacob,et al. Composition of Urinary Coproporphyrin Isomers I — IV in Human Porphyrias , 1993, European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies.