Results 41 to 50 of about 233 (96)

Lipo-Glc-1,6-P<sub>2</sub>: A Bioprecursor Prodrug for Phosphomannomutase-2 Congenital Disorder of Glycosylation. [PDF]

open access: yesIUBMB Life
Sodano F   +10 more
europepmc   +1 more source

Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency [PDF]

open access: yesJ Clin Res Pediatr Endocrinol, 2022
Vurallı D   +7 more
europepmc   +1 more source

Investigation of the Clinical and Genetic Spectrum of PMM2-CDG: Insights from a Family with a Novel Variant and Previous Studies. [PDF]

open access: yesArch Iran Med
Alagha P   +6 more
europepmc   +1 more source

Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability. [PDF]

open access: yesOxid Med Cell Longev, 2023
Yu F   +9 more
europepmc   +1 more source

Causes of mortality in the congenital disorders of glycosylation. [PDF]

open access: yesMol Genet Metab
Alharbi H   +7 more
europepmc   +1 more source

Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring. [PDF]

open access: yesJ Inherit Metab Dis
Epifani F   +14 more
europepmc   +1 more source

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