Works matching IS 01418955 AND DT 2012 AND VI 35 AND IP 6
Results: 27
The cognitive profile of type 1 Gaucher disease patients.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1093, doi. 10.1007/s10545-012-9460-7
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- Article
Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1107, doi. 10.1007/s10545-012-9472-3
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- Article
Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 975, doi. 10.1007/s10545-012-9464-3
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- Article
Clinical variability of isovaleric acidemia in a genetically homogeneous population.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1021, doi. 10.1007/s10545-012-9457-2
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- Article
Cultural aspects in the management of inborn errors of metabolism.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1147, doi. 10.1007/s10545-012-9455-4
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- Publication type:
- Article
Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1059, doi. 10.1007/s10545-012-9465-2
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- Publication type:
- Article
Lysine triggers apoptosis through a NADPH oxidase-dependent mechanism in human renal tubular cells.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1011, doi. 10.1007/s10545-012-9468-z
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- Article
Adenosine, dopamine and serotonin receptors imbalance in lymphocytes of Lesch-Nyhan patients.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1129, doi. 10.1007/s10545-012-9470-5
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- Publication type:
- Article
Tetrahydrobiopterin (BH) in PKU: effect on dietary treatment, metabolic control, and quality of life.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 983, doi. 10.1007/s10545-012-9458-1
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- Publication type:
- Article
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1031, doi. 10.1007/s10545-012-9466-1
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- Publication type:
- Article
Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1071, doi. 10.1007/s10545-012-9474-1
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- Publication type:
- Article
Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1101, doi. 10.1007/s10545-012-9476-z
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- Publication type:
- Article
In vivo catecholaminergic metabolism in the medial prefrontal cortex of ENU2 mice: an investigation of the cortical dopamine deficit in phenylketonuria.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1001, doi. 10.1007/s10545-012-9473-2
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- Publication type:
- Article
Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1137, doi. 10.1007/s10545-012-9471-4
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- Publication type:
- Article
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1037, doi. 10.1007/s10545-012-9477-y
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- Article
Living situation, occupation and health-related quality of life in adult patients with classic galactosemia.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1051, doi. 10.1007/s10545-012-9469-y
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- Publication type:
- Article
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1119, doi. 10.1007/s10545-012-9461-6
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- Publication type:
- Article
Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 993, doi. 10.1007/s10545-012-9491-0
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- Publication type:
- Article
Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1081, doi. 10.1007/s10545-012-9478-x
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- Publication type:
- Article
Unexpectedly low asymmetric dimethylarginine (ADMA) and homocysteine levels in patients with phenylketonuria(PKU).
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- 2012
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- Publication type:
- Letter
Erratum to: Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.
- Published in:
- 2012
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- Publication type:
- Correction Notice
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 963, doi. 10.1007/s10545-012-9506-x
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- Publication type:
- Article
Erratum to: Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A>G mutation.
- Published in:
- 2012
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- Publication type:
- Correction Notice
Sjögren-Larsson syndrome in clinical practice.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 955, doi. 10.1007/s10545-012-9518-6
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- Publication type:
- Article
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 943, doi. 10.1007/s10545-012-9513-y
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- Publication type:
- Article
Brown-Vialetto-Van Laere and Fazio Londe syndromes: defects of riboflavin transport with biochemical similarities to multiple acyl-CoA dehydrogenation defects (MADD).
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- 2012
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- Publication type:
- Editorial
Miglustat-induced intestinal carbohydrate malabsorption is due to the inhibition of α-glucosidases, but not β-galactosidases.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 949, doi. 10.1007/s10545-012-9523-9
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- Publication type:
- Article