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1
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients
Published 2020-01-01Subjects: Get full text
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2
Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency
Published 2022-09-01Subjects: Get full text
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3
Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management
Published 2023-01-01Subjects: Get full text
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4
Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation
Published 2022-05-01Subjects: Get full text
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5
Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation
Published 2024-06-01Subjects: Get full text
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6
Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature
Published 2020-11-01Subjects: Get full text
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7
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study
Published 2021-02-01Subjects: “…Phosphomannomutase 2…”
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8
Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report
Published 2020-10-01Subjects: Get full text
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9
Anthropometric Phenotype of Patients with PMM2-CDG
Published 2021-09-01Subjects: Get full text
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10
Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation
Published 2019-02-01Subjects: “…Phosphomannomutase 2 Deficiency…”
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11
AAV9-based PMM2 gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG)
Published 2024-03-01Subjects: “…Inherited phosphomannomutase 2 deficiency (PMM2-CDG)…”
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