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An update of clinical management of acute intermittent porphyria.
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- Application of Clinical Genetics, 2015, v. 8, p. 201, doi. 10.2147/TACG.S48605
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- Article
Is screening for urinary porphobilinogen useful among patients with acute polyneuropathy or encephalopathy?
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- Journal of Neurology, 2008, v. 255, n. 7, p. 974, doi. 10.1007/s00415-008-0779-9
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- Article
Clinical features predictive of a poor prognosis in acute porphyria.
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- Journal of Neurology, 2004, v. 251, n. 12, p. 1538, doi. 10.1007/s00415-004-0584-z
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Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.
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- European Journal of Human Genetics, 2002, v. 10, n. 10, p. 649, doi. 10.1038/sj.ejhg.5200860
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- Article
Long‐term complications in acute porphyria.
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- Liver International, 2024, v. 44, n. 9, p. 2197, doi. 10.1111/liv.15966
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- Article
Homozygous Variegate Porphyria: 20 y Follow-Up and Characterization of Molecular Defect.
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- Journal of Investigative Dermatology, 2001, v. 116, n. 4, p. 610, doi. 10.1046/j.1523-1747.2001.01293.x
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- Article
Pathogenesis of acute encephalopathy in acute hepatic porphyria.
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- Journal of Neurology, 2023, v. 270, n. 5, p. 2613, doi. 10.1007/s00415-023-11586-5
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- Article
EXPLORE B: A prospective, long‐term natural history study of patients with acute hepatic porphyria with chronic symptoms.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1163, doi. 10.1002/jimd.12551
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- Article
Four Novel Mutations in the Ferrochelatase Gene among Erythropoietic Protoporphyria Patients.
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- Journal of Investigative Dermatology, 1996, v. 106, n. 2, p. 346, doi. 10.1111/1523-1747.ep12343020
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- Article
Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria.
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- Human Mutation, 2005, v. 26, n. 5, p. 496, doi. 10.1002/humu.9381
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- Article
Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.
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- Human Molecular Genetics, 2010, v. 19, n. 4, p. 584, doi. 10.1093/hmg/ddp525
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- Article
Insertion of Alu element responsible for acute intermittent porphyria.
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- Human Mutation, 1999, v. 13, n. 6, p. 431, doi. 10.1002/(SICI)1098-1004(1999)13:6<431::AID-HUMU2>3.0.CO;2-Y
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- Article
Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis.
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- Human Mutation, 1997, v. 9, n. 2, p. 122, doi. 10.1002/(SICI)1098-1004(1997)9:2<122::AID-HUMU4>3.0.CO;2-B
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- Article
Effects of rifampicin on porphyrin metabolism in healthy volunteers.
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- Basic & Clinical Pharmacology & Toxicology, 2023, v. 132, n. 3, p. 281, doi. 10.1111/bcpt.13826
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- Article