Works matching IS 01418955 AND DT 2017 AND VI 40 AND IP 6
Results: 16
Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 845, doi. 10.1007/s10545-017-0065-z
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- Article
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 771, doi. 10.1007/s10545-017-0093-8
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- Article
Vitamin B6 is essential for serine de novo biosynthesis.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 883, doi. 10.1007/s10545-017-0061-3
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- Article
Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 875, doi. 10.1007/s10545-017-0064-0
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- Article
Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 813, doi. 10.1007/s10545-017-0067-x
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- Article
PRKAG2 mutations presenting in infancy.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 823, doi. 10.1007/s10545-017-0072-0
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- Article
Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS).
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 867, doi. 10.1007/s10545-017-0075-x
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- Article
Critical appraisal of genotype assessment in molybdenum cofactor deficiency.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 801, doi. 10.1007/s10545-017-0077-8
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- Article
K. Sarafoglou, G. F. Hoffmann, K. S. Roth (eds): Pediatric endocrinology and inborn errors of metabolism. Second edition.
- Published in:
- 2017
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- Publication type:
- Book Review
Predictability and inconsistencies in the cognitive outcome of early treated PKU patients.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 793, doi. 10.1007/s10545-017-0082-y
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- Article
Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 783, doi. 10.1007/s10545-017-0083-x
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- Publication type:
- Article
Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 831, doi. 10.1007/s10545-017-0085-8
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- Publication type:
- Article
The presence of anaemia negatively influences survival in patients with POLG disease.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 861, doi. 10.1007/s10545-017-0084-9
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- Article
Liver involvement in urea cycle disorders: a review of the literature.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 757, doi. 10.1007/s10545-017-0088-5
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- Article
News and views.
- Published in:
- 2017
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- Publication type:
- Report
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 853, doi. 10.1007/s10545-017-0057-z
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- Publication type:
- Article