MOGS‐ CDG: Quantitative analysis of the diagnostic Glc 3 Man tetrasaccharide and clinical spectrum of six new cases

CDG or not CDG

(2022) Hudson H. Freeze et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND)

(2020) Hilde A. G. Warmerdam et al.   Frontiers in Neurology

Mannosyl‐oligosaccharide glucosidase – congenital disorder of glycosylation: A patient with novel variants

(2020) Mikito Ota et al.   PEDIATRICS INTERNATIONAL

Epilepsy and movement disorders in CDG : Report on the oldest‐known MOGS‐CDG patient

(2020) Tommaso Lo Barco et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction

(2020) Rie Anzai et al.   BRAIN & DEVELOPMENT

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exome Sequencing and the Management of Neurometabolic Disorders

(2016) Maja Tarailo-Graovac et al.   NEW ENGLAND JOURNAL OF MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections

(2014) Mohammed A. Sadat et al.   NEW ENGLAND JOURNAL OF MEDICINE