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
Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.
Wang Y et al.
Orphanet Journal of Rare Diseases, 2024
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
Detection of novel ALAD gene polymorphisms using denaturing high-performance liquid chromatography.
Niu T et al.
Human Biology, 2001
[delta-Aminolevulinate dehydratase deficiency].
Fujita H et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1995
delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.
Plewinska M et al.
American Journal of Human Genetics, 1991
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