Cerebral folate deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 563, doi. 10.1007/s10545-010-9159-6
- By:
- Publication type:
- Article
Works matching IS 01418955 AND DT 2010 AND VI 33 AND IP 5
Results: 23
1
2
Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 611, doi. 10.1007/s10545-010-9158-7
- By:
- Publication type:
- Article
3
Hearing loss in Pompe disease revisited: results from a study of 24 children.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 597, doi. 10.1007/s10545-010-9144-0
- By:
- Publication type:
- Article
4
The neuropsychological profile of galactosaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 603, doi. 10.1007/s10545-010-9154-y
- By:
- Publication type:
- Article
5
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 583, doi. 10.1007/s10545-010-9118-2
- By:
- Publication type:
- Article
6
Diagnostic and predictive methods for a Niemann-Pick disease type B patient with ocular involvement.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 633, doi. 10.1007/s10545-010-9153-z
- By:
- Publication type:
- Article
7
The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 479, doi. 10.1007/s10545-010-9104-8
- By:
- Publication type:
- Article
8
Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 539, doi. 10.1007/s10545-010-9121-7
- By:
- Publication type:
- Article
9
The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 513, doi. 10.1007/s10545-010-9115-5
- By:
- Publication type:
- Article
10
Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 625, doi. 10.1007/s10545-010-9173-8
- By:
- Publication type:
- Article
11
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 571, doi. 10.1007/s10545-010-9187-2
- By:
- Publication type:
- Article
12
Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A).
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 619, doi. 10.1007/s10545-010-9166-7
- By:
- Publication type:
- Article
13
Pathophysiology of fatty acid oxidation disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 533, doi. 10.1007/s10545-010-9170-y
- By:
- Publication type:
- Article
14
Current issues regarding treatment of mitochondrial fatty acid oxidation disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 555, doi. 10.1007/s10545-010-9188-1
- By:
- Publication type:
- Article
15
Update on mitochondrial fatty acid oxidation disorders.
- Published in:
- 2010
- By:
- Publication type:
- Editorial
16
A retrospective analysis of outcome of pregnancy in patients with acute porphyria.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 591, doi. 10.1007/s10545-010-9142-2
- By:
- Publication type:
- Article
17
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 507, doi. 10.1007/s10545-010-9080-z
- By:
- Publication type:
- Article
18
Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 527, doi. 10.1007/s10545-010-9090-x
- By:
- Publication type:
- Article
19
Fatty acid oxidation disorders: outcome and long-term prognosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 501, doi. 10.1007/s10545-009-9001-1
- By:
- Publication type:
- Article
20
Clinical and biochemical monitoring of patients with fatty acid oxidation disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 495, doi. 10.1007/s10545-009-9000-2
- By:
- Publication type:
- Article
21
Disease mechanisms and protein structures in fatty acid oxidation defects.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 547, doi. 10.1007/s10545-010-9046-1
- By:
- Publication type:
- Article
22
A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 469, doi. 10.1007/s10545-010-9061-2
- By:
- Publication type:
- Article
23
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 521, doi. 10.1007/s10545-010-9076-8
- By:
- Publication type:
- Article