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

Journal of Inherited Metabolic Disease

Volumn 25, Issue 4, 2002, Pages 279-286

  Gross, U ^a   Puy, H ^b   Meissauer, U ^a   Lamoril, J ^b   Deybach, J C ^b   Doss, M ^a   Nordmann, Y ^b   Doss, M O ^a,c  

^a UNIVERSITY HOSPITAL MARBURG   (Germany)

^b HÔPITAL LOUIS MOURIER   (France)

^c Division of Clinical Biochemistry   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; COPROPORPHYRIN; COPROPORPHYRINOGEN OXIDASE; HEME; HEME ARGINATE; PORPHYRIN;

ABDOMINAL DISEASE; ADULT; ARTICLE; CASE REPORT; CLINICAL STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; DRUG RESPONSE; ENZYME ACTIVITY; EXON; FAMILY; FATHER; FEMALE; GENE INSERTION; GENETIC DISORDER; HETEROZYGOTE; HUMAN; ISOMER; MENTAL DISEASE; MOTHER; NEUROLOGIC DISEASE; PORPHYRIA; SIBLING;

ADULT; AMINOLEVULINIC ACID; ARGININE; COPROPORPHYRINOGEN OXIDASE; DNA MUTATIONAL ANALYSIS; FECES; FEMALE; HEME; HUMANS; PORPHYRIAS; PROTEIN DENATURATION;

EID: 0036692264     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1016598207397     Document Type: Article

References (13)

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