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The patient journey to diagnosis and treatment of congenital sucrase-isomaltase deficiency

PURPOSE: Congenital sucrase-isomaltase deficiency (CSID) is a rare genetic disorder characterized by a deficiency of the sucrase-isomaltase (SI) enzyme complex within the brush border membrane of the small intestine. Mutations in the SI gene result in abnormal synthesis and/or incorrect transport of...

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Detalles Bibliográficos
Autores principales:	Smith, Heather, Romero, Beverly, Flood, Emuella, Boney, Anne
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8298246/ https://www.ncbi.nlm.nih.gov/pubmed/33772704 http://dx.doi.org/10.1007/s11136-021-02819-z

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