Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India

Metachromatic leukodystrophy (MLD) due to Sap‐B deficiency is a rare autosomal recessive disorder caused due to biallelic variants in the PSAP gene. The PSAP gene encodes a precursor protein prosaposin, which is subsequently cleaved to form four active glycoproteins: Sap‐A, Sap‐B, Sap‐C, and Sap‐D....

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Detalles Bibliográficos
Autores principales: Sheth, Jayesh, Nair, Aadhira, Bhavsar, Riddhi, Shah, Heli, Tayade, Naresh, Prabha, C. Ratna, Sheth, Frenny, Sheth, Harsh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10315378/
https://www.ncbi.nlm.nih.gov/pubmed/37404680
http://dx.doi.org/10.1002/jmd2.12374

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