PMC Articles for MedGen (Select 895025) - PMC

Select item 57635401.

Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation

Pietro Vajro, Katarzyna Zielinska, Bobby G. Ng, Marco Maccarana, Per Bengtson, Marco Poeta, Claudia Mandato, Elisa D’Acunto, Hudson H. Freeze, Erik A. Eklund

Orphanet J Rare Dis. 2018; 13: 4. Published online 2018 Jan 10. doi: 10.1186/s13023-017-0757-3

PMCID:: PMC5763540

Abstract Article PDF–581K

Select item 89880392.

TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy

Yuan Fang, Kuerbanjiang Abuduxikuer, Yi-Zhen Wang, Shao-Mei Li, Lian Chen, Jian-She Wang

Front Genet. 2022; 13: 833495. Published online 2022 Mar 24. doi: 10.3389/fgene.2022.833495

PMCID:: PMC8988039

Abstract Article PDF–2.2M

Select item 59599753.

Clinical glycomics for the diagnosis of congenital disorders of glycosylation

Nurulamin Abu Bakar, Dirk J. Lefeber, Monique van Scherpenzeel

J Inherit Metab Dis. 2018; 41(3): 499–513. Published online 2018 Mar 1. doi: 10.1007/s10545-018-0144-9

PMCID:: PMC5959975

Abstract Article PDF–3.8M

Select item 47463684.

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

Jos C. Jansen, Sharita Timal, Monique van Scherpenzeel, Helen Michelakakis, Dorothée Vicogne, Angel Ashikov, Marina Moraitou, Alexander Hoischen, Karin Huijben, Gerry Steenbergen, Marjolein A.W. van den Boogert, Francesco Porta, Pier Luigi Calvo, Mersyni Mavrikou, Giovanna Cenacchi, Geert van den Bogaart, Jody Salomon, Adriaan G. Holleboom, Richard J. Rodenburg, Joost P.H. Drenth, Martijn A. Huynen, Ron A. Wevers, Eva Morava, François Foulquier, Joris A. Veltman, Dirk J. Lefeber

Am J Hum Genet. 2016 Feb 4; 98(2): 322–330. Published online 2016 Jan 28. doi: 10.1016/j.ajhg.2015.12.011

PMCID:: PMC4746368

Abstract Article PDF–2.8M

Select item 31644495.

Mannose-6-phosphate regulates destruction of lipid-linked oligosaccharides

Ningguo Gao, Jie Shang, Dang Huynh, Vijaya L. Manthati, Carolina Arias, Heather P. Harding, Randal J. Kaufman, Ian Mohr, David Ron, John R. Falck, Mark A. Lehrman

Mol Biol Cell. 2011 Sep 1; 22(17): 2994–3009. doi: 10.1091/mbc.E11-04-0286

PMCID:: PMC3164449

Abstract Article PDF–6.7M

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