Works matching IS 01418955 AND DT 2008 AND VI 31 AND IP 6
Results: 18
Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 745, doi. 10.1007/s10545-008-0873-2
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- Publication type:
- Article
The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: A review.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 703, doi. 10.1007/s10545-008-1015-6
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- Publication type:
- Article
Qualitative urinary organic acid analysis: Methodological approaches and performance.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 690, doi. 10.1007/s10545-008-0986-7
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- Publication type:
- Article
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: An analysis of 798 patients from the ICGG Gaucher Registry.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 738, doi. 10.1007/s10545-008-0868-z
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- Publication type:
- Article
Quality of diagnostic mutation analyses for phenylketonuria.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 697, doi. 10.1007/s10545-008-1052-1
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- Publication type:
- Article
Intravascular ultrasound assessment of coronary artery involvement in Fabry disease.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 753, doi. 10.1007/s10545-008-0794-0
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- Publication type:
- Article
Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 680, doi. 10.1007/s10545-008-1025-4
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- Publication type:
- Article
The unexplored potential of the pentose phosphate pathway in health and disease.
- Published in:
- 2008
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- Publication type:
- Editorial
On the nomenclature of congenital disorders of glycosylation (CDG).
- Published in:
- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 669, doi. 10.1007/s10545-008-0983-x
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- Article
External Quality Assurance of laboratory analyses.
- Published in:
- 2008
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- Publication type:
- Editorial
Long-term compliance with a novel vitamin and mineral supplement in older people with PKU.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 718, doi. 10.1007/s10545-008-0960-4
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- Publication type:
- Article
Molecular basis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 761, doi. 10.1007/s10545-008-0999-2
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- Publication type:
- Article
Arginine supplementation in four patients with X-linked creatine transporter defect.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 724, doi. 10.1007/s10545-008-0902-1
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- Publication type:
- Article
Home treatment with Elaprase® and Naglazyme® is safe in patients with mucopolysaccharidoses types II and VI, respectively.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 733, doi. 10.1007/s10545-008-0980-0
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- Publication type:
- Article
In response to ‘Newborn screening in North America’ (Therrell and Adams (2007) J Inherit Metab Dis 30:447–465).
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 777, doi. 10.1007/s10545-008-0846-5
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- Publication type:
- Article
Hyperlipidemia in glycogen storage disease type III: Effect of age and metabolic control.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 729, doi. 10.1007/s10545-008-0919-5
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- Publication type:
- Article
SSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortex.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 662, doi. 10.1007/s10545-008-0941-7
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- Publication type:
- Article
The truth of treating patients with phenylketonuria after childhood: The need for a new guideline.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 6, p. 673, doi. 10.1007/s10545-008-0918-6
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- Publication type:
- Article