The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy: re...
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
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London: BioMed Central Ltd
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English
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London: BioMed Central Ltd
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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 provides the opportunity to begin treatment before the di...
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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
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TN_cdi_doaj_primary_oai_doaj_org_article_bde73c3fe9f948f78e52fc315e536c04
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_bde73c3fe9f948f78e52fc315e536c04
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-022-02550-z
