Results 101 to 110 of about 789 (146)

Diagnosis of variegate porphyria - hard to get?

Scandinavian Journal of Clinical and Laboratory Investigation, 2000
Variegate porphyria (VP) is an inherited metabolic disease that results from the partial deficiency of protoporphyrinogen oxidase. In this communication we have used DNA technology in the diagnosis of VP and compared the results with the biochemical and clinical data. To date, we have diagnosed 107 VP patients using either biochemical or DNA techniques
M, von und zu Fraunberg, R, Kauppinen
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Variegate Porphyria: Past, Present and Future

Skin Pharmacology and Physiology, 1998
Variegate porphyria, one of the acute hepatic porphyrias, is characterized by a partial reduction in protoporphyrinogen oxidase, the seventh enzyme of the heme biosynthetic pathway. For a long time, this disease has caused confusion among the porphyrias because it presents with clinical symptoms and biochemical findings that can be similar to those ...
J, Frank, A M, Christiano
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Variegate porphyria associated with hepatocellular carcinoma

British Journal of Dermatology, 1989
A case is described of hepatocellular carcinoma presenting with the cutaneous and biochemical features of variegate porphyria.
M J, Tidman, E M, Higgins, G H, Elder, D M, MacDonald   +3 more
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Effects of haem arginate on variegate porphyria

British Journal of Dermatology, 1990
Four patients with variegate porphyria (VP) were treated with repeated haem arginate infusions daily for 4 days and then weekly for 4 weeks. After the initial four daily doses of haem arginate (haem 3 mg/kg), the excretion of faecal protoporphyrin (mean 579 nmol/g dry wt) fell to an almost normal level (mean 123 nmol/g dry wt), and that of ...
K, Timonen, P, Mustajoki, R, Tenhunen, J, Lauharanta   +3 more
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Variegate porphyria with unusual neurologic manifestations

The American Journal of the Medical Sciences, 1976
A 62-year-old man with variegate porphyria is reported. This is the first case to be described in Greece. Apart from the common features of the disease this patient exhibited sensory loss of the syringomyelic type. Though variegate prophyria with neurologic manifestations is not uncommon syringomyelic type of sensory loss is most unusual.
C, Lyberatos, G, Arapakis, E, Aronis, C, Gardikas   +3 more
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Variegate (mixed) porphyria in a Nigerian girl

Annals of Tropical Paediatrics, 1991
A fatal case of variegate (mixed) porphyria in an 11-year-old Nigerian girl is reported. She presented with severe abdominal pain, vomiting, constipation, quadriplegia and cutaneous bullous dermatosis. Remission was temporarily achieved with chlorpromazine, high carbohydrate diet and physiotherapy.
M A, Durosinmi, O, Adejuyigbe, B, Adamolekun, A D, Adekile, E O, Odunusi   +4 more
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Homozygous variegate porphyria: a case report

British Journal of Dermatology, 1990
Homozygous variegate porphyria is described in a 14-year-old girl with a unique clinical presentation of photosensitivity from the second year of life, mental retardation, clinodactyly, and normal growth rate. The erythrocyte protoporphyrin concentration was raised with the protoporphyrin being predominantly zinc-chelated, which appears to be ...
P G, Norris, G H, Elder, J L, Hawk
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[Variegate porphyria].

Nihon rinsho. Japanese journal of clinical medicine, 1995
Variegate porphyria was reviewed in the epidemiological, clinical and biochemical aspects. Dual porphyrias were also referred to.
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[Variegate porphyria].

Harefuah, 1980
A, Krakowski, S, Brenner, E, Tur, J, Blonder, A, Szeinberg   +4 more
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[A case report of variegate porphyria].

Rinsho shinkeigaku = Clinical neurology, 1996
We reported a 30-year-old woman with variegate porphyria. Family history disclosed that her mother had the same skin lesions as the present case. She has had repeated vesicles and brownish pigmentation on her upper extremities since eighteen years of age. Recently she was suffering from common cold, and was treated with drugs.
H, Shimizu, H, Miyajima, M, Kondo, N, Sakai, T, Kamata   +4 more
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