Results 151 to 160 of about 1,644 (213)

Understanding Hepatic Porphyrias: Symptoms, Treatments, and Unmet Needs. [PDF]

Semin Liver Dis
Balogun O, Nejak-Bowen K.
europepmc   +1 more source

Hepatoerythropoietic Porphyria with Coexisting <i>BTD</i> And <i>CNGB1</i> Genetic Mutations: A First Case Report. [PDF]

Eur J Case Rep Intern Med
Kaya Ç, Heydari A, Kızılay O, Kızılay O, Sezgin G.   +4 more
europepmc   +1 more source

Neurology of the acute hepatic porphyrias

Journal of the Neurological Sciences, 2021
Porphyrias are a set of rare inherited metabolic disorders, each of them representing a defect in one of the eight enzymes in the haem biosynthetic pathway resulting in the accumulation of organic compounds called porphyrins. Acute hepatic porphyrias (AHP) are those in which the enzyme deficiency occurs in the liver, of which acute intermittent ...
Oliveira Santos, Miguel, Leal Rato, Miguel   +1 more
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HEPATIC PORPHYRIAS

Clinics in Liver Disease, 1998
The porphyrias are metabolic disorders characterized by abnormal heme biosynthesis with excessive accumulation and excretion of porphyrias or porphyrin precursors. Defects in the enzymes of the heme biosynthetic pathway result in porphyria. Several of the disorders have been classified as hepatic because the major site of the biochemical defect has ...
Y V, Scarlett, D A, Brenner, J R, Bloomer   +2 more
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Erythropoietic and hepatic porphyrias

Journal of Inherited Metabolic Disease, 2000
AbstractPorphyrias are divided into erythropoietic and hepatic manifestations. Erythropoietic porphyrias are characterized by cutaneous symptoms and appear in early childhood. Erythropoietic protoporphyria is complicated by cholestatic liver cirrhosis and progressive hepatic failure in 10% of patients.
U, Gross, G F, Hoffmann, M O, Doss
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Haemophilia, hepatitis and porphyria

British Journal of Dermatology, 1977
A patient with haemophilia A developed hepatitis B, seemingly as a consequence of treatment with blood products. Six years later, bullae, photosensitivity, and the biochemical findings of porphyria cutanea tarda developed.
J W, Burnett, J M, Lamon, J, Levin
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Hepatic porphyrias in children

Journal of Inherited Metabolic Disease, 1997
AbstractClinically overt hepatic porphyria is uncommon in children. The autosomal dominant acute hepatic porphyrias, acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP), are rarely present before puberty. Identification of asymptomatic children who have inherited these disorders is an important aspect of the
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Diagnosis and treatment of the hepatic porphyrias

Dermatologic Therapy, 2003
Porphyrias are a peculiar group of diseases resulting from hereditary or acquired partial deficiencies in seven of the eight enzymes in the biosynthetic pathway of heme. Biosynthesis of heme takes place in the erythropoietic system or in the hepatic tissue.
M, Lecha, C, Herrero, D, Ozalla
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