Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions-Reference-Cited by-同舟云学术

Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions

Published:2024-02 Issue:2 Volume:26 Page:101027
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Muthusamy Karthik^ORCID,Perez-Ortiz Judit M.,Ligezka Anna N.,Altassan Ruqaiah,Johnsen Christin,Schultz Matthew J.,Patterson Marc C.,Morava Eva

Funder

Mayo Clinic

National Center for Advancing Translational Sciences

National Institutes of Health

Rare Diseases Clinical Research Network

National Institute of Neurological Disorders and Stroke

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference42 articles.

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2. Nutrition interventions in congenital disorders of glycosylation;Boyer;Trends Mol Med,2022

3. Congenital disorders of glycosylation (CDG): quo vadis?;Péanne;Eur J Med Genet,2018

4. Neurology of inherited glycosylation disorders;Freeze;Lancet Neurol,2012

5. Modeling glycan processing reveals Golgi-enzyme homeostasis upon trafficking defects and cellular differentiation;Fisher;Cell Rep,2019

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2‐CDG);Journal of Inherited Metabolic Disease;2024-08-06

2. Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort;Molecular Genetics and Metabolism;2024-08

3. Impaired myoblast differentiation and muscle IGF‐1 receptor signaling pathway activation after N‐glycosylation inhibition;The FASEB Journal;2024-07-04

4. Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis;Orphanet Journal of Rare Diseases;2024-02-02