Works matching IS 01418955 AND DT 2013 AND VI 36 AND IP 3
Results: 18
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 411, doi. 10.1007/s10545-012-9509-7
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- Publication type:
- Article
Comparative binding, endocytosis, and biodistribution of antibodies and antibody-coated carriers for targeted delivery of lysosomal enzymes to ICAM-1 versus transferrin receptor.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 467, doi. 10.1007/s10545-012-9534-6
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- Publication type:
- Article
Metabolite proofreading, a neglected aspect of intermediary metabolism.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 427, doi. 10.1007/s10545-012-9571-1
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- Publication type:
- Article
Cyclodextrin alleviates neuronal storage of cholesterol in Niemann-Pick C disease without evidence of detectable blood-brain barrier permeability.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 491, doi. 10.1007/s10545-012-9583-x
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- Publication type:
- Article
An innovative approach to the treatment of Gaucher disease and possibly other metabolic disorders of the brain.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 451, doi. 10.1007/s10545-012-9515-9
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- Publication type:
- Article
Greater risk of parkinsonism associated with non-N370S GBA1 mutations.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 575, doi. 10.1007/s10545-012-9527-5
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- Publication type:
- Article
The blood-brain barrier friend or foe?
- Published in:
- 2013
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- Publication type:
- Editorial
Expression of the Nrf2-system at the blood-CSF barrier is modulated by neonatal inflammation and hypoxia-ischemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 479, doi. 10.1007/s10545-012-9551-5
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- Publication type:
- Article
The CXCL12/CXCR4/CXCR7 ligand-receptor system regulates neuro-glio-vascular interactions and vessel growth during human brain development.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 455, doi. 10.1007/s10545-012-9574-y
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- Publication type:
- Article
Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective study.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 555, doi. 10.1007/s10545-012-9529-3
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- Publication type:
- Article
Blood-brain barrier structure and function and the challenges for CNS drug delivery.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 437, doi. 10.1007/s10545-013-9608-0
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- Publication type:
- Article
Two neonatal cholestasis patients with mutations in the SRD5B1 ( AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 565, doi. 10.1007/s10545-012-9526-6
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- Publication type:
- Article
Low lysine diet in glutaric aciduria type I - effect on anthropometric and biochemical follow-up parameters.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 525, doi. 10.1007/s10545-012-9517-7
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- Publication type:
- Article
Retroviral-vector-mediated gene therapy to mucopolysaccharidosis I mice improves sensorimotor impairments and other behavioral deficits.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 499, doi. 10.1007/s10545-012-9530-x
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- Publication type:
- Article
Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 543, doi. 10.1007/s10545-012-9528-4
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- Publication type:
- Article
Thirty years beyond discovery-Clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 401, doi. 10.1007/s10545-012-9499-5
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- Publication type:
- Article
Non-physiological amino acid (NPAA) therapy targeting brain phenylalanine reduction: pilot studies in PAH mice.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 513, doi. 10.1007/s10545-012-9524-8
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- Publication type:
- Article
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 535, doi. 10.1007/s10545-012-9525-7
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- Publication type:
- Article