Suchergebnisse - PMM2 Gene

1

Persistent Hypoglycemia with Polycystic Kidneys: A Rare Combination – A Case Report

von: Priya Prasher

2020, in: Biomedicine Hub

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2

Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)

von: Sumaya Islam

2021, in: Molecular Genetics & Genomic Medicine

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3

Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature

von: Marques-da-Silva, D.

2017, in: Journal of inherited metabolic disease

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4

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

von: Barone, Rita

2014, in: Journal of neurology

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5

AAV9-based PMM2 gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG)

von: M. Zhong

2024, in: Molecular Genetics and Metabolism Reports

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