Found: 18
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Increased mitochondrial ATP production capacity in brain of healthy mice and a mouse model of isolated complex I deficiency after isoflurane anesthesia.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 59, doi. 10.1007/s10545-015-9885-x
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- Publication type:
- Article
Peer review fraud-it's not big and it's not clever.
- Published in:
- 2016
- By:
- Publication type:
- Editorial
Myocardial glucose uptake in patients with the m.3243A > G mutation in mitochondrial DNA.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 67, doi. 10.1007/s10545-015-9865-1
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- Publication type:
- Article
Concomitant immune-related events in Wilson disease: implications for monitoring chelator therapy.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 125, doi. 10.1007/s10545-015-9866-0
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- Publication type:
- Article
Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 85, doi. 10.1007/s10545-015-9869-x
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- Publication type:
- Article
Reference values of amino acids and of common clinical chemistry in plasma of healthy infants aged 1 and 4 months.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 25, doi. 10.1007/s10545-015-9870-4
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- Publication type:
- Article
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 47, doi. 10.1007/s10545-015-9871-3
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- Publication type:
- Article
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 75, doi. 10.1007/s10545-015-9873-1
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- Publication type:
- Article
N-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 131, doi. 10.1007/s10545-015-9876-y
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- Publication type:
- Article
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 93, doi. 10.1007/s10545-015-9880-2
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- Publication type:
- Article
Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 139, doi. 10.1007/s10545-015-9881-1
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- Publication type:
- Article
Computational modeling to predict nitrogen balance during acute metabolic decompensation in patients with urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 17, doi. 10.1007/s10545-015-9882-0
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- Publication type:
- Article
Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 39, doi. 10.1007/s10545-015-9883-z
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- Publication type:
- Article
Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc is a biomarker of ALG1-CDG.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 107, doi. 10.1007/s10545-015-9884-y
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- Publication type:
- Article
Nervous system involvement in Farber disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 149, doi. 10.1007/s10545-015-9890-0
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- Publication type:
- Article
Erratum to: Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype.
- Published in:
- 2016
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- Publication type:
- Erratum
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 3, doi. 10.1007/s10545-015-9896-7
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- Publication type:
- Article
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 115, doi. 10.1007/s10545-015-9860-6
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- Publication type:
- Article