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δ-Aminolevulinate dehydratase (ALAD) porphyria: The first case in North America with two novel ALAD mutations

  • Published:2006-04 Issue:4 Volume:87 Page:329-336
  • ISSN:1096-7192
  • Container-title:Molecular Genetics and Metabolism
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism

Author:

Akagi Reiko,Kato Noriko,Inoue Rikako,Anderson Karl E.,Jaffe Eileen K.,Sassa Shigeru

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference31 articles.

1. Delta-aminolevulinic acid dehydratase assay;Sassa;Enzyme,1982

2. Inherited deficiency of delta-aminolevulinic acid dehydratase;Bird;Am. J. Hum. Genet.,1979

3. A novel mutation of delta-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity;Akagi;Br. J. Haematol.,1999

4. ALAD porphyria;Sassa;Semin. Liver Dis.,1998

5. Some biochemical and clinical aspects of lead intoxication;Granick,1978

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