Suchergebnisse - "Congenital disorders of glycosylation"

PubPharm (664)

1

Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay

enthalten in: Molecular genetics and metabolism reports | 2024

von Wang, Y. | Niu, D. | Chen, L. | +2

2

Mixed-phase weak anion-exchange/reversed-phase LC-MS/MS for analysis of nucleotide sugars in human fibroblasts

enthalten in: Analytical and bioanalytical chemistry | 2024

von Rahm, M. | Kwast, H. | Wessels, H. | +2

3

Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2

enthalten in: Molecular genetics & genomic medicine | 2024

von Fan, S. | Wu, H. | Wang, R. | +2

4

Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation : Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation

enthalten in: ClinicalTrials.gov | 2024

5

Safety and Efficacy of GS-100 Gene Therapy in Patients With NGLY1 Deficiency : A Phase 1/2/3 Open-label, Single Arm, Dose-finding Study to Investigate Long-term Safety, Tolerability and Efficacy of GS-100, an Adeno-associated Virus Serotype 9 (AAV9) Vector-mediated Gene Transfer of Human NGLY1, in Patients With NGLY1 Deficiency

enthalten in: ClinicalTrials.gov | 2024

6

Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG

enthalten in: Journal of inherited metabolic disease | 2024

von Daniel, E. | Edmondson, A. | Argon, Y. | +4

7

PIGN c.776T>C (p.Phe259Ser) variant present in trans with a pathogenic variant for PIGN-congenital disorder of glycosylation : Bella-Noah syndrome

enthalten in: Heliyon | 2024

von Neves Rebello Alves, L. | Valle Dos Santos Silveira, L. | Silva Dos Reis Trabach, R. | +3

8

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

enthalten in: Molecular genetics and metabolism reports | 2024

von Zhong, M. | Balakrishnan, B. | Guo, A. | +1

9

Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism : Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism

enthalten in: ClinicalTrials.gov | 2024

10

Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation : Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation

enthalten in: ClinicalTrials.gov | 2024

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