Works matching IS 01418955 AND DT 2011 AND VI 34 AND IP 4
Results: 15
Mouse models for congenital disorders of glycosylation.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 879, doi. 10.1007/s10545-011-9295-7
- By:
- Publication type:
- Article
From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 859, doi. 10.1007/s10545-011-9301-0
- By:
- Publication type:
- Article
Congenital disorders of glycosylation (CDG): it's (nearly) all in it!
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 853, doi. 10.1007/s10545-011-9299-3
- By:
- Publication type:
- Article
How to find and diagnose a CDG due to defective N-glycosylation.
- Published in:
- 2011
- By:
- Publication type:
- Editorial
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 901, doi. 10.1007/s10545-011-9311-y
- By:
- Publication type:
- Article
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 923, doi. 10.1007/s10545-011-9325-5
- By:
- Publication type:
- Article
The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 891, doi. 10.1007/s10545-011-9306-8
- By:
- Publication type:
- Article
Metabolic cutis laxa syndromes.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 907, doi. 10.1007/s10545-011-9305-9
- By:
- Publication type:
- Article
Clinical and molecular studies of EXT1/EXT2 in Bulgaria.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 917, doi. 10.1007/s10545-011-9314-8
- By:
- Publication type:
- Article
Pre-attentive processing in children with early and continuously-treated PKU. Effects of concurrent Phe level and lifetime dietary control.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 953, doi. 10.1007/s10545-011-9321-9
- By:
- Publication type:
- Article
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG).
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 929, doi. 10.1007/s10545-011-9328-2
- By:
- Publication type:
- Article
Mitochondrial DNA transcription regulation and nucleoid organization.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 941, doi. 10.1007/s10545-011-9330-8
- By:
- Publication type:
- Article
Correlation of age-specific phenylalanine levels with intellectual outcome in patients with phenylketonuria.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 963, doi. 10.1007/s10545-011-9329-1
- By:
- Publication type:
- Article
Oligosaccharyltransferase: the central enzyme of N-linked protein glycosylation.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 869, doi. 10.1007/s10545-011-9337-1
- By:
- Publication type:
- Article
CDG - an update.
- Published in:
- 2011
- By:
- Publication type:
- Editorial