Compound heterozygous hereditary coproporphyria with fluorescing teeth

Annals of Clinical Biochemistry

Volumn 36, Issue 5, 1999, Pages 680-682

  Doss, Manfred O ^a   Gross, U ^a   Lamoril, J ^b   Kranl, Ch ^c   Jacob, K ^d   Doss, M ^a   Da Silva, V ^b   Freesemann, A G ^a   Deybach, J Ch ^b   Sepp, N ^c   Nordmann, Y ^b  

^a UNIVERSITY HOSPITAL MARBURG   (Germany)

^b HÔPITAL LOUIS MOURIER   (France)

^c Venereology and Allergology   (Austria)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COPROPORPHYRIN; COPROPORPHYRINOGEN OXIDASE;

ARTICLE; CASE REPORT; FEMALE; FLUORESCENCE ANALYSIS; HETEROZYGOTE; HUMAN; PORPHYRIA; PRIORITY JOURNAL; SCHOOL CHILD; SKIN DEFECT; TOOTH COLOR;

EID: 0032824535     PISSN: 00045632     EISSN: None     Source Type: Journal    
DOI: 10.1177/000456329903600522     Document Type: Article

References (10)

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2. 2 Doss MO. Porphyrins and porphyrin precursors. In: Curtius HC, Roth M, eds. Clinical Biochemistry: Principles and Methods. New York: W de Gruyter, 1974; 2: 1323-71
3. 3 Jacob K, Doss MO. Composition of urinary coproporphyrin isomers I-IV in human porphyrias. Eur J Clin Chem Clin Biochem 1993; 31: 617-24
4. 4 Jacob K, Doss MO. Excretion pattern of fecal coproporphyrin isomers I-IV in human porphyrias. Eur J Clin Chem Clin Biochem 1995; 33: 893-901
5. 5 Meyer HD, Jacob K, Vogt W. Ion-pair reversed-phase high-performance liquid chromatographic determination of porphyrins from red blood cells. Chromatographia 1982; 16: 190-1
6. 6 Freesemann AG, Gross U, Bensidhoum M, de Verneuil H, Doss MO. Immunological enzymatic and biochemical studies of uroporphyrinogen III-synthase deficiency in 20 patients with congenital erythropoietric porphyria. Eur J Biochem 1998; 257: 149-53
7. 7 Nordmann Y, Grandchamp B. Hereditary coproporphyria. Demonstration of a genetic defect in coproporphyrinogen metabolism. In: Doss M, ed. Diagnosis and Therapy of Porphyrias and Lead Intoxication. Berlin; Springer-Verlag, 1978: 77-81
8. 8 Puy H, Deybach JC, Lamoril J, Robreau AM, da Silva V, Gouya L, et al. Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria. Am J Hum Genet 1997; 60: 1373-83
9. 9 Doss M, von Tiepermann R, Köpp W. Harderoporphyrin coproporphyria. Lancet 1984; i: 292
10. 10 Lamoril P, Martasek P, Deybach JC, da Silva V, Grandchamp B, Nordmann Y. A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria. Hum Mol Gen 1995; 4: 275-8