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Adamowicz, Maciej
104  Ergebnisse:
Personensuche X
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1

ATP6AP1 deficiency causes an immunodeficiency with hepatopa..:

Jansen, Eric J. R. ; Timal, Sharita ; Ryan, Margret...
Nature Communications.  7 (2016)  1 - p. , 2016
Link: https://doi.org/10.1038/..
 
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2

Search for rare liver diseases: The case of glycosylation d..:

Socha, Piotr ; Vajro, Pietro ; Lefeber, Dirk..
Clinics and Research in Hepatology and Gastroenterology.  38 (2014)  4 - p. 403-406 , 2014
Link: https://doi.org/10.1016/..
 
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3

Perinatal and early infantile symptoms in congenital disord..:

Funke, Simone ; Gardeitchik, Thatjana ; Kouwenberg, Dorus...
American Journal of Medical Genetics Part A.  161 (2013)  3 - p. 578-584 , 2013
Link: https://doi.org/10.1002/..
 
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4

Gene identification in the congenital disorders of glycosyl..:

Timal, Sharita ; Hoischen, Alexander ; Lehle, Ludwig...
Human Molecular Genetics.  21 (2012)  19 - p. 4151-4161 , 2012
Link: https://doi.org/10.1093/..
 
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5

Plasma N-Glycan Profiling by Mass Spectrometry for Congenit..:

Lefeber, Dirk J ; Wevers, Ron A ; Adamowicz, Maciej...
Clinical Chemistry.  57 (2011)  4 - p. 593-602 , 2011
Link: https://doi.org/10.1373/..
 
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6

A novel cerebello-ocular syndrome with abnormal glycosylati..:

Morava, Eva ; Wevers, Ron A. ; Cantagrel, Vincent...
Brain.  133 (2010)  11 - p. 3210-3220 , 2010
Link: https://doi.org/10.1093/..
 
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7

SRD5A3 Is Required for Converting Polyprenol to Dolichol an..:

Cantagrel, Vincent ; Lefeber, Dirk J. ; Ng, Bobby G....
Cell.  142 (2010)  2 - p. 203-217 , 2010
Link: https://doi.org/10.1016/..
 
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8

CDG Type Ia and Congenital Cytomegalovirus Infection: Two C..:

Jamroz, Ewa ; Adamek, Dariusz ; Paprocka, Justyna...
Journal of Child Neurology.  24 (2009)  1 - p. 13-18 , 2009
Link: https://doi.org/10.1177/..
 
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9

Multiplexed glycoproteomic analysis of glycosylation disord..:

Sturiale, Luisa ; Barone, Rita ; Palmigiano, Angelo...
PROTEOMICS.  8 (2008)  18 - p. 3822-3832 , 2008
Link: https://doi.org/10.1002/..
 
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10

Pericardial and abdominal fluid accumulation in Congenital ..:

Truin, Gerben ; Guillard, Mailys ; Lefeber, Dirk J....
Molecular Genetics and Metabolism.  94 (2008)  4 - p. 481-484 , 2008
Link: https://doi.org/10.1016/..
 
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11

Characterization of two unusual truncating PMM2 mutations i..:

Schollen, Els ; Keldermans, Liesbeth ; Foulquier, François...
Molecular Genetics and Metabolism.  90 (2007)  4 - p. 408-413 , 2007
Link: https://doi.org/10.1016/..
 
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12

Patients with unsolved congenital disorders of glycosylatio..:

Wopereis, Suzan ; Morava, Éva ; Grünewald, Stephanie...
Glycobiology.  15 (2005)  12 - p. 1312-1319 , 2005
Link: https://doi.org/10.1093/..
 
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13

Clinical heterogeneity and molecular findings in five Polis..:

Hellerud, Christina ; Adamowicz, Maciej ; Jurkiewicz, Dorota...
Molecular Genetics and Metabolism.  79 (2003)  3 - p. 149-159 , 2003
Link: https://doi.org/10.1016/..
 
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14

Carbohydrate deficient glycoprotein syndrome-like transferr..:

Adamowicz, Maciej ; Pronicka, Ewa
European Journal of Pediatrics.  155 (1996)  4 - p. 347-348 , 1996
Link: https://doi.org/10.1007/..
 
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15

Inhibition of Phosphomannose Isomerase by Fructose 1-Phosph..:

Jaeken, Jaak ; Pirard, Michel ; Adamowicz, Maciej..
Pediatric Research.  40 (1996)  5 - p. 764-766 , 1996
Link: https://doi.org/10.1203/..
 
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