Associated Papers
Profound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria.
Roach AN et al.
European Journal of Human Genetics : Ejhg, 2025
Porphobilinogen synthase: An equilibrium of different assemblies in human health.
Jaffe EK
Progress in Molecular Biology and Translational Science, 2020
Co-synthesis of Human delta-Aminolevulinate Dehydratase (ALAD) Mutants with the Wild-type Enzyme in Cell-free System-Critical Importance of Conformation on Enzyme Activity-.
Inoue R et al.
Journal of Clinical Biochemistry and Nutrition, 2008
[Gene defects identified in porphyrias and their participation in onset of this disease].
Akagi R et al.
Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica, 2007
ALAD porphyria is a conformational disease.
Jaffe EK et al.
American Journal of Human Genetics, 2007
The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany.
Doss MO et al.
Journal of Inherited Metabolic Disease, 2004
Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria.
Akagi R et al.
Hepatology (baltimore, Md.), 2000
A novel mutation of delta-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity.
Akagi R et al.
British Journal of Haematology, 1999
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