Associated Papers
New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model.
Di Pierro E et al.
Journal of Internal Medicine, 2026
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
Heme biosynthesis depends on previously unrecognized acquisition of iron-sulfur cofactors in human amino-levulinic acid dehydratase.
Liu G et al.
Nature Communications, 2020
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
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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