Results 141 to 150 of about 2,338 (181)
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Journal of Clinical Gastroenterology, 1998
The porphyrias are a heterogeneous group of metabolic disorders caused by genetic defects of the enzymes involved in heme biosynthesis. The diseases are characterized by excessive accumulation and excretion of porphyrin or porphyrin precursors. The disorders have been classified as cutaneous, hepatic, or neuropsychiatric according to the organ system ...
Y V, Scarlett, D A, Brenner
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The porphyrias are a heterogeneous group of metabolic disorders caused by genetic defects of the enzymes involved in heme biosynthesis. The diseases are characterized by excessive accumulation and excretion of porphyrin or porphyrin precursors. The disorders have been classified as cutaneous, hepatic, or neuropsychiatric according to the organ system ...
Y V, Scarlett, D A, Brenner
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Porphyria and pseudo-porphyria in hemodialyzed patients
International Journal of Biochemistry, 1980Abstract A case of “bullous dermatosis of hemodialysis” which turns out to be a true hereditary PCT, is presented. The particularly serious and fast course of the cutaneous lesions might be due to the extremely high level of plasmatic porphyrins, which neither the residual renal function nor the hemodialysis are able to reduce.
TOPI GC +3 more
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Seminars in Liver Disease, 1998
Variegate porphyria is an autosomal dominant inherited trait resulting in decreased activity of protoporphyrinogen oxidase. It is characterized clinically by photosensitive skin disease and a propensity to acute neurovisceral crises. The disease is found worldwide but has an exceptionally high frequency in South Africa.
R E, Kirsch, P N, Meissner, R J, Hift
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Variegate porphyria is an autosomal dominant inherited trait resulting in decreased activity of protoporphyrinogen oxidase. It is characterized clinically by photosensitive skin disease and a propensity to acute neurovisceral crises. The disease is found worldwide but has an exceptionally high frequency in South Africa.
R E, Kirsch, P N, Meissner, R J, Hift
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Clinics in Dermatology, 1985
Free porphyrins in varying amounts are found to be widely, although somewhat erratically, distributed throughout the animal kingdom, and indeed in most forms of living organisms. It would indeed have been surprising had it been otherwise since the tetrapyrrole ring system is a key material in the fabric of life.
C, Rimington, M R, Moore
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Free porphyrins in varying amounts are found to be widely, although somewhat erratically, distributed throughout the animal kingdom, and indeed in most forms of living organisms. It would indeed have been surprising had it been otherwise since the tetrapyrrole ring system is a key material in the fabric of life.
C, Rimington, M R, Moore
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The porphyrias: pathophysiology
Internal and Emergency Medicine, 2010Porphyrias are a group of inherited and acquired metabolic disorders due to a defect in haem biosynthesis. An enzymatic defect at different steps of haem synthesis leads to tissue accumulation and excessive excretion of porphyrins and/or their toxic precursors.
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The Indian Journal of Pediatrics, 1963
A 10-year-old child with porphyria erythropoietica is reported with detailed biochemical investigations. This is the eighth published case in India. A brief review of porphyria is presented.
D N, MULLICK +3 more
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A 10-year-old child with porphyria erythropoietica is reported with detailed biochemical investigations. This is the eighth published case in India. A brief review of porphyria is presented.
D N, MULLICK +3 more
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Seminars in Liver Disease, 1998
ALAD porphyria is an autosomal recessive disorder resulting from a homozygous aminolevulinic acid dehydratase (ALAD) deficiency. Because of an almost complete lack of ALAD activity, patients excrete a large amount of ALA, but not PBG, into urine. The symptoms in this disease are similar to those seen in AIP, but ALAD porphyria can be differentiated ...
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ALAD porphyria is an autosomal recessive disorder resulting from a homozygous aminolevulinic acid dehydratase (ALAD) deficiency. Because of an almost complete lack of ALAD activity, patients excrete a large amount of ALA, but not PBG, into urine. The symptoms in this disease are similar to those seen in AIP, but ALAD porphyria can be differentiated ...
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International Journal of Biochemistry, 1993
1. The porphyrias are a group of metabolic disorders arising from defects in the haem biosynthetic pathway. Most forms are inherited as Mendelian autosomal dominants, but some types are recessive and others acquired through exposure to porphyrinogenic drugs and chemicals. There is a linked group of diseases, which are not porphyrias, but have in common
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1. The porphyrias are a group of metabolic disorders arising from defects in the haem biosynthetic pathway. Most forms are inherited as Mendelian autosomal dominants, but some types are recessive and others acquired through exposure to porphyrinogenic drugs and chemicals. There is a linked group of diseases, which are not porphyrias, but have in common
openaire +2 more sources