Skeletal abnormalities in homocystinuria.
نویسندگان
چکیده
منابع مشابه
Prevalence and type of dental abnormalities among patients with different skeletal malocclusion classes in northern Iran
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متن کاملDystonia in homocystinuria.
Three patients with homocystinuria due to cystathionine beta-synthase deficiency who developed progressive generalised dystonia are described. Although cerebrovascular thrombosis is usually thought to be responsible for neurological dysfunction in homocystinuric patients, neuropathological studies in one case and clinical and radiological evidence in the other two suggested that dystonia was no...
متن کاملPathological Findings in Homocystinuria.
Pathological findings are described in four cases of a new aminoaciduria in which homocystine is excreted in the urine. All the patients were mentally retarded children. Three of them presented diagnostic features of Marfan's syndrome. Necropsy on one case and biopsy findings in the others are described. Fatty change occurs in the liver. The most striking lesions are vascular. Metachromatic med...
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ژورنال
عنوان ژورنال: Postgraduate Medical Journal
سال: 1977
ISSN: 0032-5473
DOI: 10.1136/pgmj.53.622.488