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
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
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
Select a paper to view details