Maciej Adamowicz
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Explore the profile of Maciej Adamowicz including associated specialties, affiliations and a list of published articles.
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Articles
18
Citations
686
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Recent Articles
1.
Jansen E, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham L, et al.
Nat Commun
. 2016 May;
7:11600.
PMID: 27231034
The V-ATPase is the main regulator of intra-organellar acidification. Assembly of this complex has extensively been studied in yeast, while limited knowledge exists for man. We identified 11 male patients...
2.
Socha P, Vajro P, Lefeber D, Adamowicz M, Tanner S
Clin Res Hepatol Gastroenterol
. 2014 Jun;
38(4):403-6.
PMID: 24972800
Pediatric hepatology appears to be a very specific field of paediatrics which deals mainly with rare diseases although clinical features can be commonly found - like increased activity of transaminases....
3.
Tegtmeyer L, Rust S, van Scherpenzeel M, Ng B, Losfeld M, Timal S, et al.
N Engl J Med
. 2014 Feb;
370(6):533-42.
PMID: 24499211
Background: Congenital disorders of glycosylation are genetic syndromes that result in impaired glycoprotein production. We evaluated patients who had a novel recessive disorder of glycosylation, with a range of clinical...
4.
Funke S, Gardeitchik T, Kouwenberg D, Mohamed M, Wortmann S, Korsch E, et al.
Am J Med Genet A
. 2013 Feb;
161A(3):578-84.
PMID: 23401092
Congenital disorders of glycosylation (CDG) are a rapidly growing family of inborn errors. Screening for CDG in suspected cases is usually performed in the first year of life by serum...
5.
Morava E, Vodopiutz J, Lefeber D, Janecke A, Schmidt W, Lechner S, et al.
Pediatrics
. 2012 Sep;
130(4):e1034-9.
PMID: 22966035
Deficiency of β-1,4 mannosyltransferase (MT-1) congenital disorder of glycosylation (CDG), due to ALG1 gene mutations. Features in 9 patients reported previously consisted of prenatal growth retardation, pregnancy-induced maternal hypertension and...
6.
Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, et al.
Hum Mol Genet
. 2012 Apr;
21(19):4151-61.
PMID: 22492991
Congenital disorders of glycosylation type I (CDG-I) form a growing group of recessive neurometabolic diseases. Identification of disease genes is compromised by the enormous heterogeneity in clinical symptoms and the...
7.
Guillard M, Morava E, van Delft F, Hague R, Korner C, Adamowicz M, et al.
Clin Chem
. 2011 Jan;
57(4):593-602.
PMID: 21273509
Background: Determination of the genetic defect in patients with a congenital disorder of glycosylation (CDG) is challenging because of the wide clinical presentation, the large number of gene products involved,...
8.
Morava E, Wevers R, Cantagrel V, Hoefsloot L, Al-Gazali L, Schoots J, et al.
Brain
. 2010 Sep;
133(11):3210-20.
PMID: 20852264
Cerebellar hypoplasia and slowly progressive ophthalmological symptoms are common features in patients with congenital disorders of glycosylation type I. In a group of patients with congenital disorders of glycosylation type...
9.
Jamroz E, Paprocka J, Popowska E, Pytel J, Ciara E, Adamowicz M
Neurol India
. 2010 Aug;
58(4):670-1.
PMID: 20739824
No abstract available.
10.
Cantagrel V, Lefeber D, Ng B, Guan Z, Silhavy J, Bielas S, et al.
Cell
. 2010 Jul;
142(2):203-17.
PMID: 20637498
N-linked glycosylation is the most frequent modification of secreted and membrane-bound proteins in eukaryotic cells, disruption of which is the basis of the congenital disorders of glycosylation (CDGs). We describe...