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Homocystinuria in New South Wales.
Homocystinuria was studied in 27 patients from 15 families in New South Wales. All 2 had biochemical findings consistent with cystathionine synthetase deficiency. One patient was ascertained by newborn screening, but the remaining index cases were detected because of symptoms: poor eyesight 6, menta...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
1978
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1545146/ https://ncbi.nlm.nih.gov/pubmed/646432 |
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