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Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction
BACKGROUND: The main genetic causes of homocystinuria are cystathionine beta-synthase (CBS) deficiency and the remethylation defects. Many patients present in childhood but milder forms may present later in life. Some countries have newborn screening programs for the homocystinurias but these do not...
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| Опубликовано в: : | Orphanet J Rare Dis |
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| Главные авторы: | , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BioMed Central
2021
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7945666/ https://ncbi.nlm.nih.gov/pubmed/33691747 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01764-x |
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