Works matching IS 01418955 AND DT 2014 AND VI 37 AND IP 6
Results: 17
Long-term effectiveness of enzyme replacement therapy in adults with Gaucher disease: results from the NCS-LSD cohort study.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 953, doi. 10.1007/s10545-014-9680-0
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- Article
Long-term effectiveness of enzyme replacement therapy in children with Gaucher disease: results from the NCS-LSD cohort study.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 961, doi. 10.1007/s10545-014-9693-8
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- Article
Evaluation of an imaging biomarker, Dixon quantitative chemical shift imaging, in Gaucher disease: lessons learned.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 1003, doi. 10.1007/s10545-014-9726-3
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- Article
Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 991, doi. 10.1007/s10545-014-9711-x
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- Article
Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 969, doi. 10.1007/s10545-014-9717-4
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- Article
Insights into human phosphoglycerate kinase 1 deficiency as a conformational disease from biochemical, biophysical, and in vitro expression analyses.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 909, doi. 10.1007/s10545-014-9721-8
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- Article
Effective clearance of GL-3 in a human iPSC-derived cardiomyocyte model of Fabry disease.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 1013, doi. 10.1007/s10545-014-9724-5
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- Article
Long term differential consequences of miglustat therapy on intestinal disaccharidases.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 929, doi. 10.1007/s10545-014-9725-4
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- Article
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 979, doi. 10.1007/s10545-014-9715-6
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- Article
Expanded newborn screening in New South Wales: missed cases.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 881, doi. 10.1007/s10545-014-9727-2
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- Article
Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 945, doi. 10.1007/s10545-014-9728-1
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- Article
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 889, doi. 10.1007/s10545-014-9729-0
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- Article
A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut methylmalonic acidemia.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 899, doi. 10.1007/s10545-014-9730-7
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- Article
Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 917, doi. 10.1007/s10545-014-9732-5
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- Article
A systematic review of bone mineral density and fractures in phenylketonuria.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 875, doi. 10.1007/s10545-014-9735-2
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- Article
Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation.
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- 2014
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- Publication type:
- Erratum
The NCS-LSD cohort study: a description of the methods and analyses used to assess the long-term effectiveness of enzyme replacement therapy and substrate reduction therapy in patients with lysosomal storage disorders.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 939, doi. 10.1007/s10545-014-9679-6
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- Article