The third case of Doss porphyria (δ-amino-levulinic acid dehydratase deficiency) in Germany

Journal of Inherited Metabolic Disease

Volumn 27, Issue 4, 2004, Pages 529-536

  Doss, M O ^a   Stauch, T ^b   Gross, Ulrich ^c   Renz, M ^b   Akagi, R ^d   Doss Frank, M ^a   Seelig, H P ^b   Sassa, S ^d  

^a Clin Biochem Consult Porphyria   (Germany)

^b Med Chem Laboratory Prof Seelig   (Germany)

^c GOETHE UNIVERSITY   (Germany)

^d ROCKEFELLER UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOLEVULINIC ACID; COPROPORPHYRIN; DITHIOTHREITOL; ERYTHROCYTE PROTOPORPHYRIN; HEME ARGINATE; HYDROLYASE; LEAD; PORPHOBILINOGEN; PROTOPORPHYRIN ZINC; UROPORPHYRIN;

ABDOMINAL PAIN; ADOLESCENT; ARTICLE; CASE REPORT; CONCENTRATION (PARAMETERS); DISEASE SEVERITY; DOSS PORPHYRIA; ENZYME DEFICIENCY; EXON; FECES ANALYSIS; GENE MUTATION; GENE SEQUENCE; GERMANY; HETEROZYGOSITY; HUMAN; IMMUNOLOGICAL PROCEDURES; INCIDENCE; LEAD BLOOD LEVEL; LEAD POISONING; MALE; POLYNEUROPATHY; PORPHYRIA; PROTEIN URINE LEVEL; SEQUENCE ANALYSIS;

ABDOMINAL PAIN; ADOLESCENT; AMINOLEVULINIC ACID; DITHIOTHREITOL; ERYTHROCYTES; GERMANY; HUMANS; MALE; MUTATION; PEDIGREE; POLYNEUROPATHIES; PORPHOBILINOGEN; PORPHOBILINOGEN SYNTHASE; PORPHYRINS; ZINC;

EID: 4344615560     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000037341.21975.9d     Document Type: Article

References (16)

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