Works matching IS 01418955 AND DT 2017 AND VI 40 AND IP 1
Results: 16
Jean-Marie Saudubray, Matthias R. Baumgartner, John Walter (Eds.). Inborn metabolic diseases: diagnosis and treatment.
- Published in:
- 2017
- By:
- Publication type:
- Book Review
Carla E. M. Hollak and Robin Lachmann (editors) Inherited metabolic disease in adults - A clinical guide.
- Published in:
- 2017
- By:
- Publication type:
- Book Review
Lack of global epigenetic methylation defects in CBS deficient mice.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 113, doi. 10.1007/s10545-016-9958-5
- By:
- Publication type:
- Article
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 5, doi. 10.1007/s10545-016-9972-7
- By:
- Publication type:
- Article
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 121, doi. 10.1007/s10545-016-9977-2
- By:
- Publication type:
- Article
Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 139, doi. 10.1007/s10545-016-9978-1
- By:
- Publication type:
- Article
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 49, doi. 10.1007/s10545-016-9979-0
- By:
- Publication type:
- Article
Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 151, doi. 10.1007/s10545-016-9981-6
- By:
- Publication type:
- Article
Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 159, doi. 10.1007/s10545-016-9985-2
- By:
- Publication type:
- Article
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 21, doi. 10.1007/s10545-016-9991-4
- By:
- Publication type:
- Article
Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 103, doi. 10.1007/s10545-016-9992-3
- By:
- Publication type:
- Article
Ketones and inborn errors of metabolism: old friends revisited.
- Published in:
- 2017
- By:
- Publication type:
- Editorial
Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 131, doi. 10.1007/s10545-016-9993-2
- By:
- Publication type:
- Article
Guidelines on homocystinurias and methylation defects: a harmonized approach to diagnosis and management.
- Published in:
- 2017
- By:
- Publication type:
- Editorial
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 75, doi. 10.1007/s10545-016-9999-9
- By:
- Publication type:
- Article
G. F. Hoffmann, J. Zschocke, W. Nyhan (eds): Inherited metabolic diseases. A clinical approach. Second edition.
- Published in:
- 2017
- By:
- Publication type:
- Book Review