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porphyria
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CPOX
Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis
Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family
Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update
Expression of coproporphyrinogen oxidase and synthesis of hemoglobin in human erythroleukemia K562 cells
UROD
Uroporphyrinogen decarboxylation as a benchmark for the catalytic proficiency of enzymes
PPOX
Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene
Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria
Single-strand conformational polymorphism and denaturing gradient gel electrophoresis in screening for variegate porphyria: identification of two new mutations
ALAD
Assignment of the human gene for delta aminolevulinate dehydrase to chromosome 9 by somatic cell hybridization and specific enzyme immunoassay
HMBS
Porphobilinogen deaminase in human erythrocytes: purification of two forms with apparent molecular weights of 40 kDa and 42 kDa
ALAS2
Hypoxia induces erythroid-specific 5-aminolevulinate synthase expression in human erythroid cells through transforming growth factor-beta signaling
The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis
FECH
Inhibition of human lymphocyte ferrochelatase activity by hemin
The effect of liver transplantation in a 13-year-old boy with erythropoietic protoporphyria
HFE
Screening for HFE and iron overload
Genetic predisposition to iron overload: prevalence and phenotypic expression of hemochromatosis-associated ''HFE''-C282Y gene mutation
Cancer Gene Census
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Treatment of Hemochromatosis
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Heme biosynthesis
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8 genes