Found: 6
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Cystic renal dysplasia as a leading sign of inherited metabolic disease.
- Published in:
- 2007
- By:
- Publication type:
- Report
Recommendations for the management of tyrosinaemia type 1.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-8
- By:
- Publication type:
- Article
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 81, doi. 10.1007/s10545-017-0097-4
- By:
- Publication type:
- Article
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 748, doi. 10.1002/humu.20349
- By:
- Publication type:
- Article
Three successful pregnancies in a patient with glycogen storage disease type 0.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 38, doi. 10.1002/jmd2.12178
- By:
- Publication type:
- Article
Author reply to... Prof. Dr. med. Bernhard Heimkes.
- Published in:
- 2023
- By:
- Publication type:
- Letter to the Editor