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Porphyria and pregnancy. Case report.
(2011-11-10)
The porphyrias are a group of diseases caused by a deficiency of enzymes responsible for the synthesis of heme, that can
lead to severe disease that requires early diagnosis to avoid complications. The frequency of the ...
Bioanalytical studies of porphyric disorders using HPLC with fluorescence detection
(Sociedade Brasileira de Química, 2014-10-01)
We describe here the development, validation, quantification and application of a method for determination of heme porphyrin precursors in the urine of porphyric patients. The isomers coproporphyrinogen I and III (COPRO I ...
The very first description of a patient with hepatoerythropoietic porphyria in Argentina: Biochemical and molecular studies
(C M B Association, 2009-02)
Hepatoerythropoietic Porphyria (HEP) is the rare homozygous form of Porphyria Cutanea Tarda (PCT). It is characterized clinically by the early onset of severe skin manifestations which can be confused with Congenital ...
CALCIUM-DEPENDENT MITOCHONDRIAL OXIDATIVE DAMAGE PROMOTED BY 5-AMINOLEVULINIC ACID
(Elsevier Science BvAmsterdamHolanda, 1992)
Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients
(Rio de Janeiro, 2014-03-17)
BACKGROUND:
Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme. Several reports associated HFE gene mutations of hereditary ...
Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients
(Springer, 2012-04)
A partial deficiency in protoporphyrinogen oxidase (PPOX) produces the acute/cutaneous (or mixed) variegate porphyria (VP), the third most frequent porphyria in Argentina. This autosomal dominant disorder is clinically ...
Pseudoporfiria induzida pela diálise tratada com N-acetilcisteína oral
(Soc Brasileira Dermatologia, 2011-03-01)
Pseudoporphyria is a rare bullous dermatosis that clinically and histopathologically is similar to porphyria cutanea tarda. It mainly affects patients with chronic renal failure on peritoneal dialysis or hemodialysis. ...
Pseudoporfiria induzida pela diálise tratada com N-acetilcisteína oral
(Soc Brasileira Dermatologia, 2011-03-01)
Pseudoporphyria is a rare bullous dermatosis that clinically and histopathologically is similar to porphyria cutanea tarda. It mainly affects patients with chronic renal failure on peritoneal dialysis or hemodialysis. ...
Pseudoporfiria induzida pela diálise tratada com N-acetilcisteína oral
(2011-03-01)
Pseudoporphyria is a rare bullous dermatosis that clinically and histopathologically is similar to porphyria cutanea tarda. It mainly affects patients with chronic renal failure on peritoneal dialysis or hemodialysis. ...
Haplotype analysis of single nucleotide polymorphisms of cyp1a1 and cyp1a2 and its relationship with the development of porphyria cutanea tarda
(MNK publication, 2019-02)
Abstract : Objective: Porphyria Cutanea Tarda results from decrease hepatic uroporphyrinogen decarboxylase activity. There are twoprincipal types: sporadic or acquired and familial or hereditary Porphyria Cutanea Tarda. ...