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Article

Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.

Journal of pediatric endocrinology & metabolism : JPEM - 25 Sept 2020

Waheed Nadia, Saeed Anjum, Ijaz Sadaqat, Fayyaz Zafar, Anjum Muhammad Nadeem, Zahoor Yasir, Cheema Huma Arshad

Abstract excerpt

Background PHKG2-related liver phosphorylase kinase deficiency is inherited in autosomal recessive pattern and is a rare type of liver glycogenosis. We demonstrated the clinical presentation and genetic determinants involved in children with PHKG2- related liver phosphorylase kinase deficiency. Methodology Ten Pakistani children with liver phosphorylase kinase from seven different families, were enrolled over a...

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Glycogen Storage Disease

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PMID: 32697758
DOI: 10.1515/jpem-2019-0603

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