porphyrias/proline

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Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria.

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Porphyrias are rare metabolic hereditary diseases originating from defects in specific enzymes involved in the heme biosynthesis pathway. Congenital erythropoietic porphyria (CEP) is the rarest autosomal recessive porphyria resulting from a deficiency of uroporphyrinogen III cosynthase (UROS), the

A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family.

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The molecular basis of the uroporphyrinogen III synthase (UROIIIS) deficiency was investigated in two members of a Japanese family. This defect in heme biosynthesis is responsible for a rare autosomal recessive disease: congenital erythropoietic porphyria (CEP) or Gnther's disease. The first patient

A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.

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Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme of the heme biosynthetic pathway. Establishing accurate diagnoses of the patient and asymptomatic family members with AIP involves identifying the

Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).

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Congenital erythropoietic porphyria (Günther's disease) is a rare disorder of heme biosynthesis inherited in an autosomal recessive fashion. The molecular abnormality responsible for the characteristic defect in uroporphyrinogen III synthase activity was investigated in two patients. For the first

Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.

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A deficiency in uroporphyrinogen decarboxylase (UROD) enzyme activity, the fifth enzyme of the heme biosynthetic pathway, is found in patients with sporadic porphyria cutanea tarda (s-PCT), familial porphyria cutanea tarda (f-PCT), and hepatoerythropoietic porphyria (HEP). Subnormal UROD activity is

Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling.

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In a Palestinian family, four siblings were shown to express typical and severe congenital erythropoietic porphyria (CEP). A new mutation of the uroporphyrinogen III synthase (UROS) gene was evidenced by systematic sequencing of the UROS gene: the substitution of serine by proline at the amino acid

Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.

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Variegate porphyria (VP) is an autosomal dominant disorder characterised by a partial defect in the activity of protoporphyrinogen oxidase (PPO), and has recently been genetically linked to the PPO gene on chromosome 1q22-23 (Z=6.62). In this study, we identified a mutation in the PPO gene in a

[Sclerodermiform porphyria cutanea tarda. Ultrastructural study].

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Approximately 30% of patients affected of PCT present scleroderma-like lesion of the skin. Two cases of PCT, presenting scleroderma-like lesions are reported. The patients were diabetic but not alcoholic and tolerate relatively well sunshine. Porphyrin elimination diminished with urine

A metabolomic perspective of griseofulvin-induced liver injury in mice.

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Griseofulvin (GSF) causes hepatic porphyria in mice, which mimics the liver injury associated with erythropoietic protoporphyria (EPP) in humans. The current study investigated the biochemical basis of GSF-induced liver injury in mice using a metabolimic approach. GSF treatment in mice resulted in

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