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
Case Report: Lack of Response to Givosiran in a Case of ALAD Porphyria.
Graff E et al.
Frontiers in Genetics, 2022
Porphobilinogen synthase: An equilibrium of different assemblies in human health.
Jaffe EK
Progress in Molecular Biology and Translational Science, 2020
Allosteric inhibition of human porphobilinogen synthase.
Lawrence SH et al.
The Journal of Biological Chemistry, 2009
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
delta-Aminolevulinate dehydratase (ALAD) porphyria: the first case in North America with two novel ALAD mutations.
Akagi R et al.
Molecular Genetics and Metabolism, 2006
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