Hepatolenticular Degeneration
Mostrando 1-12 de 15 artigos, teses e dissertações.
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1. Manifestações neurológicas na doença de Wilson: estudo clínico e correlações genotípicas / Neurological manifestations in Wilson disease: clinical study and genotype correlations
Wilson disease, a rare inborn metabolic error, is characterized by deficient hepatic copper excretion, due to mutations in ATP7B gene. Neurological manifestations may vary, although there is commonly a movement disorder starting in the second or third decade of life. This study is divided in two parts, and it describes the neurological manifestations in 119
Publicado em: 2008
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2. Cupriuresis in parents of patients with Wilson disease before and after oral intake of d-penicillamine / Cuprúria em pais de pacientes com doença de Wilson antes e depois da administração oral de d-penicilamina
Wilson disease is a biliary copper excretion disturbance, of recessive autossomic heritage, due to ATP7B gene mutations. The copper not bound to apoceruloplasmin circulates in the organism bound to amino acids and accumulates mainly in the liver and brain being excreted by the kidneys. Urinary copper higher than 100ug/24h can be useful in the diagnosis, but
Publicado em: 2007
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3. "Doença de Wilson: aspectos demográficos e fenotípicos relacionados ao genótipo ATP7B e estudo do haplótipo em portadores da mutação L708P" / Wilson disease : demographic and phenotypic aspects related to ATP7B genotype and haplotype analysis in carriers of the L708P mutation
ATP7B protein. As the first study of its kind in South America, the ATP7B gene was sequenced and the results were related to demographic and phenotypic aspects of 60 Brazilian patients, from 46 distinct families. Twenty-five mutations were detected, 12 of which are novel. The 3402delC (34.8%) and the L708P (14.1%) occurred in 58.3% of the families from Sao P
Publicado em: 2004
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4. Amino-aciduria and Copper Metabolism in Hepatolenticular Degeneration
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5. DIMERCAPROL IN THE PRE-NEUROLOGICAL STAGE OF WILSON'S DISEASE (HEPATOLENTICULAR DEGENERATION)
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6. Clinical and pathological findings in a case of hepatolenticular degeneration treated with penicillamine
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7. THE ABSORPTION AND EXCRETION OF RADIOCOPPER IN HEPATO-LENTICULAR DEGENERATION (WILSON'S DISEASE)
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8. Metabolic balances of copper in patients with hepatolenticular degeneration submitted to vegetarian and mixed diets.
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9. INVESTIGATION OF THE AMINOACIDURIA IN WILSON'S DISEASE (HEPATOLENTICULAR DEGENERATION): DEMONSTRATION OF A DEFECT IN RENAL FUNCTION 1
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10. STUDIES ON COPPER METABOLISM. XVI. RADIOACTIVE COPPER STUDIES IN NORMAL SUBJECTS AND IN PATIENTS WITH HEPATOLENTICULAR DEGENERATION 1
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11. STUDIES ON COPPER METABOLISM. XIV. COPPER, CERULO-PLASMIN AND OXIDASE ACTIVITY IN SERA OF NORMAL HUMAN SUBJECTS, PREGNANT WOMEN, AND PATIENTS WITH INFECTION, HEPATOLENTICULAR DEGENERATION AND THE NEPHROTIC SYNDROME 1
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12. Clinical copper metabolism parameters in patients with retinitis pigmentosa and other tapeto-retinal degenerations.
Reports have appeared of abnormal copper metabolism in retinitis pigmentosa, and of a family with vitelliform retinal degeneration in which other members suffered from hepatolenticular degeneration. In the present study 15 patients with retinitis pigmentosa, 4 with various other retinal degenerations, and 1 with a family disposition to retinitis pigmentosa w