Associated Papers
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation.
Fiumara A et al.
European Journal of Medical Genetics, 2023
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19.
López-Rodríguez R et al.
Scientific Reports, 2022
TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy.
Fang Y et al.
Frontiers in Genetics, 2022
Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.
Linders PTA et al.
International Journal of Molecular Sciences, 2020
Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation.
Vajro P et al.
Orphanet Journal of Rare Diseases, 2018
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
Jansen JC et al.
American Journal of Human Genetics, 2016
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