Works matching IS 01418955 AND DT 2014 AND VI 37 AND IP 4
Results: 21
The significance of GBA for Parkinson's disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 4, p. 643, doi. 10.1007/s10545-014-9714-7
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- Publication type:
- Article
The potential of exosomes in diagnosis and treatment of inborn errors of metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 4, p. 497, doi. 10.1007/s10545-014-9681-z
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- Publication type:
- Article
Congenital disorders of glycosylation: new defects and still counting.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 4, p. 609, doi. 10.1007/s10545-014-9720-9
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- Publication type:
- Article
Comment on Zwickler et al.: Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia.
- Published in:
- 2014
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- Publication type:
- Letter
Physician's guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases.
- Published in:
- 2014
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- Publication type:
- Book Review
What is new for monoamine neurotransmitter disorders?
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 4, p. 619, doi. 10.1007/s10545-014-9697-4
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- Publication type:
- Article
Arterial stiffness in patients with non-classic Pompe disease: role of antihypertensive drugs and statins.
- Published in:
- 2014
- By:
- Publication type:
- Letter
Modelling inborn errors of metabolism in zebrafish.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 4, p. 483, doi. 10.1007/s10545-014-9696-5
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- Publication type:
- Article
Defects of thiamine transport and metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 4, p. 577, doi. 10.1007/s10545-014-9712-9
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- Publication type:
- Article
Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 4, p. 505, doi. 10.1007/s10545-014-9701-z
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- Publication type:
- Article
Erratum to: Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands.
- Published in:
- 2014
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- Publication type:
- Erratum
Parkinsonism and inborn errors of metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 4, p. 627, doi. 10.1007/s10545-014-9723-6
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- Publication type:
- Article
Treating inborn errors of liver metabolism with stem cells: current clinical development.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 4, p. 535, doi. 10.1007/s10545-014-9691-x
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- Publication type:
- Article
Ketone body metabolism and its defects.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 4, p. 541, doi. 10.1007/s10545-014-9704-9
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- Publication type:
- Article
Lysosomal diseases: diagnostic update.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 4, p. 599, doi. 10.1007/s10545-014-9710-y
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- Publication type:
- Article
Lipoic acid biosynthesis defects.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 4, p. 553, doi. 10.1007/s10545-014-9705-8
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- Publication type:
- Article
Lentiviral vectors for the treatment of primary immunodeficiencies.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 4, p. 525, doi. 10.1007/s10545-014-9690-y
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- Publication type:
- Article
Treatment of lysosomal storage disorders: successes and challenges.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 4, p. 587, doi. 10.1007/s10545-014-9718-3
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- Publication type:
- Article
A brief overview of galactosemia newborn screening in the United States.
- Published in:
- 2014
- By:
- Publication type:
- Letter
12th international congress of inborn errors of metabolism, 3rd-6th September, 2013.
- Published in:
- 2014
- By:
- Publication type:
- Editorial
Mitochondrial transporters of the SLC25 family and associated diseases: a review.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 4, p. 565, doi. 10.1007/s10545-014-9708-5
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- Publication type:
- Article