The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy: results of a Caregiver Survey in the UK and Republic of Ireland

Metachromatic Leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA). MLD causes progressive loss of motor function and severe decline in cognitive function, leading to premature death. Early diagnosis of MLD provide...

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Detalles Bibliográficos
Autores principales: Morton, Georgina, Thomas, Sophie, Roberts, Pat, Clark, Vivienne, Imrie, Jackie, Morrison, Alexandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9635117/
https://www.ncbi.nlm.nih.gov/pubmed/36329444
http://dx.doi.org/10.1186/s13023-022-02550-z

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