J C Deybach

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BACKGROUND Acute intermittent porphyria (AIP) is an inherited disorder in the heme biosynthetic pathway caused by a partial deficiency of porphobilinogen (PBG) deaminase. Clinically, AIP is characterized as acute neurovisceral attacks that are often precipitated by exogenous factors such as drugs, hormones, and alcohol. An early detection of mutation(More)
The gene which codes for dopamine receptor D2 (DRD2) is considered as one of the most relevant candidate genes in schizophrenia. Previous genetic studies focusing on this gene gave conflicting results, potentially because of the differences in methodology (linkage versus association studies), and the different loci analyzed (the DRD2 gene having many(More)
Erythropoietic protoporphyria (EPP) is an inherited disorder caused by a partial deficiency of the enzyme ferro-chelatase. Ferrochelatase catalyzes the insertion of ferrous ions into protoporphyrin IX, the last step in heme biosyn-thesis. As a result of ferrochelatase deficiency, protopor-phyrin is accumulated in various tissues; this accumulation is(More)
Defects in the human ferrochelatase gene lead to the hereditary disorder of erythropoietic protoporphyria. The clinical expression of this autosomal dominant disorder requires an allelic combination of a disabled mutant allele and a low-expressed nonmutant allele. Unlike most other erythropoietic protoporphyria populations, mutations identified among Swiss(More)
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