Concepedia

Author

Maciej Adamowicz

Children's Memorial Health Institute

Also Known As

Maciej Adamowicz

22

Publications

1.5K

Citations

16

H-Index

39

Concepts

All Affiliations

Children's Memorial Health InstituteRadboud University NijmegenRadboud University Medical CenterUniversity of RegensburgMayo Clinic
MA

About

Maciej Adamowicz is an author at Children's Memorial Health Institute specializing in medicine, genetics, and glycobiology.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

7

7

720

2

Health Sciences

2

2

87

3

Biochemistry

2

2

129

4

Natural Sciences

1

1

83

5

Diabetes

1

1

46

Maciej Adamowicz

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15

Publications

1.5K

Citations

15

H-Index

YearCitations

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

Vincent Cantagrel, Dirk J. Lefeber, Bobby G. Ng,

Cell

2010

303

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel,

New England Journal of Medicine

2014

279

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

Sharita Timal, Alexander Hoischen, Ludwig Lehle,

Human Molecular Genetics

2012

170

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

Eric J. R. Jansen, Sharita Timal, Margret Ryan,

Nature Communications

2016

146

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

Éva Morava, Ron A. Wevers, Vincent Cantagrel,

Brain

2010

100

Inhibition of Phosphomannose Isomerase by Fructose 1-Phosphate: An Explanation for Defective N-Glycosylation in Hereditary Fructose Intolerance

Jaak Jaeken, Michel Pirard, Maciej Adamowicz,

Pediatric Research

1996

83

Plasma N-Glycan Profiling by Mass Spectrometry for Congenital Disorders of Glycosylation Type II

Maïlys Guillard, Éva Morava, Floris L. van Delft,

Clinical Chemistry

2011

65

Pericardial and abdominal fluid accumulation in Congenital Disorder of Glycosylation type Ia

Gerben Truin, Maïlys Guillard, Dirk J. Lefeber,

Molecular Genetics and Metabolism

2008

50

Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI‐TOF MS

Luisa Sturiale, Rita Barone, Angelo Palmigiano,

PROTEOMICS

2008

47

Perinatal and early infantile symptoms in congenital disorders of glycosylation

Simone Funke, Thatjana Gardeitchik, Dorus Kouwenberg,

American Journal of Medical Genetics Part A

2013

47

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