Works matching IS 01418955 AND DT 2013 AND VI 36 AND IP 5
Results: 24
Normal rates of whole-body fat oxidation and gluconeogenesis after overnight fasting and moderate-intensity exercise in patients with medium-chain acyl-CoA dehydrogenase deficiency.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 831, doi. 10.1007/s10545-012-9532-8
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- Publication type:
- Article
Clinical and biochemical features associated with BCS1L mutation.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 813, doi. 10.1007/s10545-012-9536-4
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- Publication type:
- Article
The male reproductive system in classic galactosemia: cryptorchidism and low semen volume.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 779, doi. 10.1007/s10545-012-9539-1
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- Publication type:
- Article
Cross-sectional baseline analysis of electrocardiography in a large cohort of patients with untreated Fabry disease.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 873, doi. 10.1007/s10545-012-9540-8
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- Article
Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 787, doi. 10.1007/s10545-012-9541-7
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- Publication type:
- Article
Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 795, doi. 10.1007/s10545-012-9542-6
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- Publication type:
- Article
Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 821, doi. 10.1007/s10545-012-9543-5
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- Publication type:
- Article
The incidence of inherited porphyrias in Europe.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 849, doi. 10.1007/s10545-012-9544-4
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- Publication type:
- Article
Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 731, doi. 10.1007/s10545-012-9545-3
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- Publication type:
- Article
Lyso-globotriaosylsphingosine (lyso-Gb) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 881, doi. 10.1007/s10545-012-9547-1
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- Publication type:
- Article
Chronic kidney disease in adolescent and adult patients with phenylketonuria.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 747, doi. 10.1007/s10545-012-9548-0
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- Publication type:
- Article
Chronic administration of branched-chain amino acids impairs spatial memory and increases brain-derived neurotrophic factor in a rat model.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 721, doi. 10.1007/s10545-012-9549-z
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- Publication type:
- Article
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 893, doi. 10.1007/s10545-012-9550-6
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- Publication type:
- Article
Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 741, doi. 10.1007/s10545-012-9552-4
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- Publication type:
- Article
Fumarylacetoacetate inhibits the initial step of the base excision repair pathway: implication for the pathogenesis of tyrosinemia type I.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 773, doi. 10.1007/s10545-012-9556-0
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- Publication type:
- Article
Antenatal manifestations of mitochondrial disorders.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 805, doi. 10.1007/s10545-012-9567-x
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- Publication type:
- Article
Does the PKU diet contribute to impaired renal function?
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- 2013
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- Publication type:
- Editorial
Important aspects in the molecular diagnosis of mucopolysaccharidoses.
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- 2013
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- Publication type:
- Letter
Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 869, doi. 10.1007/s10545-012-9561-3
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- Publication type:
- Article
Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 757, doi. 10.1007/s10545-012-9564-0
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- Publication type:
- Article
Health-related quality of life in children and adolescents with phenylketonuria: unimpaired HRQoL in patients but feared school failure in parents.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 767, doi. 10.1007/s10545-012-9566-y
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- Publication type:
- Article
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 859, doi. 10.1007/s10545-012-9560-4
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- Publication type:
- Article
Screening for congenital disorders of glycosylation in the first weeks of life.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 887, doi. 10.1007/s10545-012-9531-9
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- Publication type:
- Article
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 841, doi. 10.1007/s10545-012-9565-z
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- Publication type:
- Article