Hurler–Scheie syndrome in Niger: a case series

BACKGROUND: Hurler–Scheie syndrome is an intermediate form of mucopolysaccharidosis type I which is a rare lysosomal storage disorder caused by the deficiency or complete absence of enzyme alpha-L-iduronidase activity. We report the first documented cases of Hurler–Scheie syndrome observed in Niger...

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Detalles Bibliográficos
Autores principales: Assadeck, Hamid, Toudou Daouda, Moussa, Bako, Harouna, Hassane Djibo, Fatimata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482501/
https://www.ncbi.nlm.nih.gov/pubmed/31018863
http://dx.doi.org/10.1186/s13256-019-2047-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482501/
https://www.ncbi.nlm.nih.gov/pubmed/31018863
http://dx.doi.org/10.1186/s13256-019-2047-2

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