Works matching IS 01418955 AND DT 2016 AND VI 39 AND IP 5
Results: 20
Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 651, doi. 10.1007/s10545-016-9935-z
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- Publication type:
- Article
On the origin of 3-methylglutaconic acid in disorders of mitochondrial energy metabolism.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Appropriateness of newborn screening for classic galactosaemia: a systematic review.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 633, doi. 10.1007/s10545-016-9936-y
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- Publication type:
- Article
News and views.
- Published in:
- 2016
- By:
- Publication type:
- Report
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 597, doi. 10.1007/s10545-016-9937-x
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- Publication type:
- Article
Phenotyping GABA transaminase deficiency: a case description and literature review.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 743, doi. 10.1007/s10545-016-9951-z
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- Publication type:
- Article
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 697, doi. 10.1007/s10545-016-9932-2
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- Publication type:
- Article
A novel method for determining peroxisomal fatty acid β-oxidation.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 725, doi. 10.1007/s10545-016-9952-y
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- Publication type:
- Article
Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 689, doi. 10.1007/s10545-016-9956-7
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- Publication type:
- Article
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 661, doi. 10.1007/s10545-016-9938-9
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- Publication type:
- Article
Genetic cause and prevalence of hydroxyprolinemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 625, doi. 10.1007/s10545-016-9940-2
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- Publication type:
- Article
Qualitative urinary organic acid analysis: 10 years of quality assurance.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 683, doi. 10.1007/s10545-016-9941-1
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- Publication type:
- Article
Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.
- Published in:
- 2016
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- Publication type:
- Erratum
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 713, doi. 10.1007/s10545-016-9945-x
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- Publication type:
- Article
Antenatal manifestations of inborn errors of metabolism: biological diagnosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 611, doi. 10.1007/s10545-016-9947-8
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- Publication type:
- Article
International Paediatric Mitochondrial Disease Scale.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 705, doi. 10.1007/s10545-016-9948-7
- By:
- Publication type:
- Article
Tyrosinemia type I and not treatment with NTBC causes slower learning and altered behavior in mice.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 673, doi. 10.1007/s10545-016-9949-6
- By:
- Publication type:
- Article
News and views.
- Published in:
- 2016
- By:
- Publication type:
- Report
Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
- Published in:
- 2016
- By:
- Publication type:
- Erratum
The value of plasma vitamin B profiles in early onset epileptic encephalopathies.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 733, doi. 10.1007/s10545-016-9955-8
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- Publication type:
- Article