Article

Caregiver Perspective on the Initial Signs and Symptoms of Metachromatic Leukodystrophy

2022-05-31

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Metachromatic leukodystrophy (MLD), a relentlessly progressive and ultimately fatal condition, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA). Historically management has been palliative or supportive care. Hematopoietic stem cell transplantation is poorly effective in early-onset MLD and bene...

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Literature Corpus work: e1b08d13-a34b-5a27-8fff-db418ce265be
DOI: 10.21203/rs.3.rs-546822/v2

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