Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review

Mucopolysaccharidosis type I (MPS I) is a rare inherited lysosomal disorder caused by deficiency of the α-L-iduronidase enzyme, resulting in the progressive accumulation of glycosaminoglycans (GAGs), which interfere with the normal function of multiple tissues and organs. The clinical phenotype incl...

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Detalles Bibliográficos
Autores principales: Pillai, Nishitha R., Ahmed, Alia, Vanyo, Todd, Whitley, Chester B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9331972/
https://www.ncbi.nlm.nih.gov/pubmed/35893030
http://dx.doi.org/10.3390/genes13081293

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9331972/
https://www.ncbi.nlm.nih.gov/pubmed/35893030
http://dx.doi.org/10.3390/genes13081293

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