Works matching IS 01418955 AND DT 2016 AND VI 39 AND IP 2
Results: 16
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 211, doi. 10.1007/s10545-015-9899-4
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- Publication type:
- Article
Neonatal cellular and gene therapies for mucopolysaccharidoses: the earlier the better?
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 189, doi. 10.1007/s10545-015-9900-2
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- Publication type:
- Article
Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders-review and meta-analysis of observational studies published over more than 35 years.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 219, doi. 10.1007/s10545-015-9901-1
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- Publication type:
- Article
Acute fatal metabolic complications in alkaptonuria.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 203, doi. 10.1007/s10545-015-9902-0
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- Publication type:
- Article
Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 231, doi. 10.1007/s10545-015-9887-8
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- Publication type:
- Article
Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 253, doi. 10.1007/s10545-015-9889-6
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- Publication type:
- Article
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 243, doi. 10.1007/s10545-015-9894-9
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- Publication type:
- Article
Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 285, doi. 10.1007/s10545-015-9895-8
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- Publication type:
- Article
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 305, doi. 10.1007/s10545-015-9897-6
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- Publication type:
- Article
Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 261, doi. 10.1007/s10545-015-9898-5
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- Publication type:
- Article
Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 173, doi. 10.1007/s10545-015-9903-z
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- Publication type:
- Article
3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen?
- Published in:
- 2016
- By:
- Publication type:
- Editorial
Pride and protein.
- Published in:
- 2016
- By:
- Publication type:
- Book Review
Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 309, doi. 10.1007/s10545-015-9909-6
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- Publication type:
- Article
Mannose receptor-mediated delivery of moss-made α-galactosidase A efficiently corrects enzyme deficiency in Fabry mice.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 293, doi. 10.1007/s10545-015-9886-9
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- Publication type:
- Article
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 273, doi. 10.1007/s10545-015-9904-y
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- Publication type:
- Article