Familial porphyria cutanea tarda.
نویسندگان
چکیده
Semiautomated Detection of Human Papifiomavirus DNA of High and Low Oncogenic Potential in Cervical Smears. George Terry, Linda Ho, Anne Szarewski, Jack Cuzick 1890 Immunoassay with Recombinant Trypanosoma cruzi Antigens Potentially Useful for Screening Donated Blood and Diagnosing Chagas Disease. Ana C. Pastini, Sergio R. Iglesias, Valentina C. Carri carte, Marcelo E. Guerin, Daniel 0. Sanchez, Alberto C. Frasch 1893
منابع مشابه
Familial and sporadic porphyria cutanea tarda: clinical, biochemical and genetic features with emphasis on iron status.
The manifestation of porphyria cutanea tarda reflects genetic and environmental factors. Mutations in the uroporphyrinogen decarboxylase gene, located at chromosome 1p34, discriminate familial porphyria cutanea tarda from sporadic cases. Furthermore, mutations in the haemochromatosis gene may be involved in the aetiology. In this study 53 unrelated Danish patients with porphyria cutanea tarda w...
متن کاملPseudoporphyria in association with Hepatitis C virus infection: A case report
Pseudoporphyria is an uncommon bullous disease with similar clinical and histopathological findings to porphyria cutanea tarda, in the absence of detectable porphyrin elevation. We present a 34-year-old man with clinical and histological findings compatible with porphyria cutanea tarda, whose his urinary uroporphyrin was negative and we concluded that he was a case of pseudoporphyria. Concomita...
متن کاملComplex pattern of alternative splicing in the normal uroporphyrinogen decarboxylase gene: implications for diagnosis of familial porphyria cutanea tarda.
We describe multiple alternative transcripts of uroporphyrinogen decarboxylase mRNA in normal individuals and patients with familial porphyria cutanea tarda. mRNA was reverse-transcribed, subjected to the polymerase chain reaction, and analyzed for nucleotide sequence. Seven different transcripts were characterized, and a cryptic splice acceptor site was identified in intron 1. In all mRNAs the...
متن کاملIdentification of two types of porphyria cutanea tarda by measurement of erythrocyte uroporphyrinogen decarboxylase.
1. Erythrocyte uroporphyrinogen decarboxylase activity has been measured in 27 patients with porphyria cutanea tarda, of whom 11 had a family history of overt porphyria cutanea tarda. 2. Eight patients from six families had erythrocyte uroporphyrinogen decarboxylase activities that were decreased to about half of control values. This decrease was shown by family studies to be inherited as an au...
متن کاملFamilial porphyria cutanea tarda: the pattern of porphyrins formed from porphobilinogen by hemolysates.
Porphyria cutanea tarda is thought to result from an inherited deficiency of uroporphyrinogen decarboxylase (EC 4.1.1.37) in some patients. Present methods for determining uroporphyrinogen decarboxylase activity are time consuming, so we examined the pattern of porphyrins formed from porphobilinogen by hemolysates as a possible marker for hereditary porphyria cutanea tarda. After the hemolysate...
متن کاملPorphyria cutanea tarda and Sjogren's syndrome*
Porphyria cutanea tarda is prevalent in connective tissue disease, common in systemic lupus erythematosus. However, the co-existence of primary sjogren's syndrome and porphyria cutanea tarda is rare and poses diagnostic and therapeutic challenges. We report a case of porphyria cutanea tarda associated with primary sjogren's syndrome.
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ورودعنوان ژورنال:
- The Australasian journal of dermatology
دوره 26 2 شماره
صفحات -
تاریخ انتشار 1985