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harderoporphyrinogen and Coproporphyria, Hereditary

harderoporphyrinogen has been researched along with Coproporphyria, Hereditary in 1 studies

*Coproporphyria, Hereditary: An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS. [MeSH]

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Balwani, M; Bishop, DF; Cakmak, A; Clavero, S; Desnick, RJ; Ezgü, FS; Hasanoglu, A; Kasapkara, CS; Nazarenko, I; Okur, I; Tümer, L; Yu, C1

Other Studies

1 other study(ies) available for harderoporphyrinogen and Coproporphyria, Hereditary

ArticleYear
Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.
    Journal of inherited metabolic disease, 2011, Volume: 34, Issue:1

    Topics: Amino Acid Substitution; Consanguinity; Coproporphyria, Hereditary; Coproporphyrinogen Oxidase; Humans; Infant; Male; Mutation, Missense; Porphyrinogens

2011