Works matching IS 01418955 AND DT 2017 AND VI 40 AND IP 4
Results: 15
Recent advances in liver transplantation for metabolic disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 491, doi. 10.1007/s10545-017-0020-z
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- Publication type:
- Article
MtDNA-maintenance defects: syndromes and genes.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 587, doi. 10.1007/s10545-017-0027-5
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- Publication type:
- Article
Inherited disorders of transition metal metabolism: an update.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 519, doi. 10.1007/s10545-017-0030-x
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- Publication type:
- Article
Molecular therapy of primary hyperoxaluria.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 481, doi. 10.1007/s10545-017-0045-3
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- Publication type:
- Article
What is new in CDG?
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 569, doi. 10.1007/s10545-017-0050-6
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- Publication type:
- Article
Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 543, doi. 10.1007/s10545-017-0052-4
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- Publication type:
- Article
Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 497, doi. 10.1007/s10545-017-0053-3
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- Publication type:
- Article
High-content drug screening for rare diseases.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 601, doi. 10.1007/s10545-017-0055-1
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- Publication type:
- Article
News and views.
- Published in:
- 2017
- By:
- Publication type:
- Report
Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 531, doi. 10.1007/s10545-017-0059-x
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- Publication type:
- Article
Cysteamine revisited: repair of arginine to cysteine mutations.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 555, doi. 10.1007/s10545-017-0060-4
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- Publication type:
- Article
News and views.
- Published in:
- 2017
- By:
- Publication type:
- Report
Amino acid synthesis deficiencies.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 609, doi. 10.1007/s10545-017-0063-1
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- Publication type:
- Article
Erratum to: What is new in CDG?
- Published in:
- 2017
- By:
- Publication type:
- Erratum
Role of miRNAs in human disease and inborn errors of metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 471, doi. 10.1007/s10545-017-0018-6
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- Publication type:
- Article