Article

Alpha-mannosidosis in a 3.5-year-old girl: A case report

2024-03-06

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Alpha-mannosidosis is a rare lysosomal storage disease caused by a deficiency of the enzyme alpha-mannosidase. It manifests as a continuous spectrum of signs and symptoms characterized by dysmorphic features, skeletal abnormalities, delayed psychomotor and speech development, impaired hearing, and psychiatric involvement. When suspected, alpha-mannosidosis must...

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Literature Corpus work: 165631fc-a30f-5ed8-8779-4e26b5d99388
DOI: 10.21203/rs.3.rs-3952224/v1

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