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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7945666/ https://www.ncbi.nlm.nih.gov/pubmed/33691747 http://dx.doi.org/10.1186/s13023-021-01764-x |