Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL).
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 171, doi. 10.1007/s10545-014-9752-1
- By:
- Publication type:
- Article
Works matching IS 01418955 AND DT 2015 AND VI 38 AND IP 1
Results: 17
1
2
Palmitoylation and depalmitoylation defects.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 179, doi. 10.1007/s10545-014-9753-0
- By:
- Publication type:
- Article
3
Genetic bases and clinical manifestations of coenzyme Q (CoQ) deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 145, doi. 10.1007/s10545-014-9749-9
- By:
- Publication type:
- Article
4
Lipid metabolism in mitochondrial membranes.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 137, doi. 10.1007/s10545-014-9748-x
- By:
- Publication type:
- Article
5
The consequences of genetic and pharmacologic reduction in sphingolipid synthesis.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 77, doi. 10.1007/s10545-014-9758-8
- By:
- Publication type:
- Article
6
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 99, doi. 10.1007/s10545-014-9759-7
- By:
- Publication type:
- Article
7
Genetic defects in dolichol metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 157, doi. 10.1007/s10545-014-9760-1
- By:
- Publication type:
- Article
8
An overview of inborn errors of complex lipid biosynthesis and remodelling.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 3, doi. 10.1007/s10545-014-9764-x
- By:
- Publication type:
- Article
9
Inborn errors of cytoplasmic triglyceride metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 85, doi. 10.1007/s10545-014-9767-7
- By:
- Publication type:
- Article
10
Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 123, doi. 10.1007/s10545-014-9770-z
- By:
- Publication type:
- Article
11
The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 19, doi. 10.1007/s10545-014-9776-6
- By:
- Publication type:
- Article
12
Complex lipids.
- Published in:
- 2015
- By:
- Publication type:
- Editorial
13
Principles and practice of lipidomics.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 41, doi. 10.1007/s10545-014-9792-6
- By:
- Publication type:
- Article
14
Complex lipid trafficking in Niemann-Pick disease type C.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 187, doi. 10.1007/s10545-014-9794-4
- By:
- Publication type:
- Article
15
Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 111, doi. 10.1007/s10545-014-9795-3
- By:
- Publication type:
- Article
16
Lipidomic analysis of cerebrospinal fluid by mass spectrometry-based methods.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 53, doi. 10.1007/s10545-014-9798-0
- By:
- Publication type:
- Article
17
Human genetic disorders of sphingolipid biosynthesis.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 65, doi. 10.1007/s10545-014-9736-1
- By:
- Publication type:
- Article