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
[Gene defects identified in porphyrias and their participation in onset of this disease].
Akagi R et al.
Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica, 2007
Molecular analysis of delta-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria.
Akagi R et al.
Blood, 2000
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