Results 181 to 190 of about 11,286 (212)
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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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The Lancet, 2005
Seven different porphyrias form a group of inherited metabolic disorders, each resulting from a partial deficiency of a specific enzyme in the haem biosynthesis pathway. Clinically, the three most important entities are an acute porphyric attack and acute and chronic skin symptoms.
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Seven different porphyrias form a group of inherited metabolic disorders, each resulting from a partial deficiency of a specific enzyme in the haem biosynthesis pathway. Clinically, the three most important entities are an acute porphyric attack and acute and chronic skin symptoms.
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Emergency Medicine Clinics of North America, 2005
The porphyrias are a group of disorders involving enzymatic defects in heme synthesis. The porphyrias classically manifest neuro-visceral or photocutaneous symptoms based on which enzyme in the heme metabolic pathway is deficient. Although rare, the porphyrias would most likely be encountered in the emergency department in patients presenting with ...
Teague A, Dombeck, Robert C, Satonik
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The porphyrias are a group of disorders involving enzymatic defects in heme synthesis. The porphyrias classically manifest neuro-visceral or photocutaneous symptoms based on which enzyme in the heme metabolic pathway is deficient. Although rare, the porphyrias would most likely be encountered in the emergency department in patients presenting with ...
Teague A, Dombeck, Robert C, Satonik
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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
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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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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Blood Reviews, 1990
The porphyrias are a group of metabolic disorders arising from defects in the haem biosynthetic pathway. Most forms are inherited as Mendelian autosomal dominant characters, but some are recessive and others acquired. There is a linked group of diseases, which are not porphyrias, but have in common alterations of haem biosynthesis.
M R, Moore +3 more
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The porphyrias are a group of metabolic disorders arising from defects in the haem biosynthetic pathway. Most forms are inherited as Mendelian autosomal dominant characters, but some are recessive and others acquired. There is a linked group of diseases, which are not porphyrias, but have in common alterations of haem biosynthesis.
M R, Moore +3 more
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Current Treatment Options in Gastroenterology, 2000
The porphyrias are a diverse group of metabolic diseases. Major manifestations are episodic neurovisceral attacks of pain or other neurologic features, and/or dermatologic abnormalities. It is essential that a clear diagnosis be established prior to planning management.
, Bonkovsky, , Barnard
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The porphyrias are a diverse group of metabolic diseases. Major manifestations are episodic neurovisceral attacks of pain or other neurologic features, and/or dermatologic abnormalities. It is essential that a clear diagnosis be established prior to planning management.
, Bonkovsky, , Barnard
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Disease-a-Month, 1989
The porphyrias are metabolic disorders in which there are excessive accumulation and excretion of porphyrins and porphyrin precursors. Each of the porphyrias has a specific enzyme defect in the pathway of heme biosynthesis that explains the pattern of biochemical abnormalities that occur.
J R, Bloomer, H L, Bonkovsky
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The porphyrias are metabolic disorders in which there are excessive accumulation and excretion of porphyrins and porphyrin precursors. Each of the porphyrias has a specific enzyme defect in the pathway of heme biosynthesis that explains the pattern of biochemical abnormalities that occur.
J R, Bloomer, H L, Bonkovsky
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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 +2 more
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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 +2 more
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