منابع مشابه
Studies on alcaptonuria: 2. Investigations on a case of human alcaptonuria.
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متن کاملA case of alcaptonuria with fatal cardiovascular disturbance.
A case of alcaptonuria combined with aortic insufficiency was found in a 28-year-old male. The patient was palpitating at admission. The daily excretion of homogentisic acid was 2.0-6.0 g. Electrocardiography indicated atrial fibrillation and left ventricular hypertrophy with a ST-T change and right axis deviation. Cartilage tissues in the knee-joints showed no pigmentation. Vertebral X-ray rev...
متن کاملProblems in the laboratory diagnosis of alcaptonuria.
Two patients with urinary findings suggestive of alcaptonuria were observed. One was a two-year-old girl of Turkish descent, presenting with dark-stained diapers, black ear wax, and no other stated problem. The second was a 61-year-old North American Indian woman with long-standing rheumatoid arthritis, bluish sclerae, chronic renal failure, and dark urine. Diagnosis of alcaptonuria was confirm...
متن کاملCase Report: Hallervorden–Spatz Syndrome with Seizures
Hallervorden-Spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. The disease is caused by mutations in gene encoding pantothenate kinase 2 (PANK2) and patients have pantothenate kinase-associated neurodegeneration. We present an 8-year-old boy with progressive muscle dystonia, neuroregression, frequent fall and multiple injur...
متن کاملThe nature of the defect in tyrosine metabolism in alcaptonuria.
Alcaptonuria is a rare, hereditary, metabolic disorder characterized by a defect in the oxidation of tyrosine (l-3). In this condition homogentisic acid, an intermediary product of tyrosine degradation in mammalian liver, is excreted in the urine. This disorder has been attributed to an abnormality of the enzyme system, homogentisic acid oxidase, but the exact nature of the abnormality has not ...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1983
ISSN: 0022-3050
DOI: 10.1136/jnnp.46.1.98