Results 181 to 190 of about 13,719 (226)
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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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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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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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CKJ: Clinical Kidney Journal, 2018 International audienceThe kidneys, after the bone marrow and liver, are third in terms of the amounts of haem synthesized daily. Haem is incorporated into haemoproteins that are critical to renal physiology.
Nicolas Pallet +2 more
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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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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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