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Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency
Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive disorder of carbohydrate maldigestion and malabsorption caused by mutations in the sucrase-isomaltase (SI) gene. SI, together with maltase-glucoamylase (MGAM), belongs to the enzyme family of disaccharidases required for break...
Autores principales: | Husein, Diab M., Wanes, Dalanda, Marten, Lara M., Zimmer, Klaus-Peter, Naim, Hassan Y. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6835860/ https://www.ncbi.nlm.nih.gov/pubmed/31557950 http://dx.doi.org/10.3390/nu11102290 |
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