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Homozygous cystinuria and the oculo-cerebro-renal dystrophy of Lowe in same family.
The mother and daughter in a family had homozygous cystinuria and were also heterozygous carriers of the oculo-cerebro-renal dystrophy of Lowe. The daughter was also epileptic. The son had Lowe's syndrome and the father an increased urinary excretion of cystine and lysine. This evidence togethe...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
1976
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1546047/ https://ncbi.nlm.nih.gov/pubmed/962366 |
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