Maciej Adamowicz

Statistics

Publications

Citations

1.5K

H-Index

Active since

1996

Affiliations

Children's Memorial Health Institute(Current)

Radboud University Nijmegen

Radboud University Medical Center

University of Regensburg

KU Leuven

Maciej Adamowicz is an author at Children's Memorial Health Institute specializing in life sciences, congenital glycosylation disorders, and genetics.

Publications per year

1996–2016

Publications

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

Vincent Cantagrel, Dirk J. Lefeber, Bobby G. Ng et al. · Cell · 2010 · 311 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel et al. · New England Journal of Medicine · 2014 · 285 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Sharita Timal, Alexander Hoischen, Ludwig Lehle et al. · Human Molecular Genetics · 2012 · 171 citations

Life Sciences, Genetics, Molecular Genetics +14

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Eric J. R. Jansen, Sharita Timal, Margret Ryan et al. · Nature Communications · 2016 · 150 citations · Full text

Life Sciences, Genetics, Molecular Biology +13

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism

Éva Morava, Ron A. Wevers, Vincent Cantagrel et al. · Brain · 2010 · 104 citations · Full text

Medicine, Genetics, Ophthalmology +17

1–5 of 15