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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Detalles Bibliográficos
Autores principales: Morrison, T., Bösch, F., Landolt, M. A., Kožich, V., Huemer, M., Morris, A. A. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
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

Internet

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

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