Found: 7
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Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 709, doi. 10.1007/s10545-018-0150-y
- By:
- Publication type:
- Article
Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 309, doi. 10.1007/s10545-015-9909-6
- By:
- Publication type:
- Article
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 819, doi. 10.1007/s10545-011-9300-1
- By:
- Publication type:
- Article
Erratum to: Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.
- Published in:
- 2011
- By:
- Publication type:
- Correction Notice
Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency.
- Published in:
- Human Mutation, 2011, v. 32, n. 9, p. 1019, doi. 10.1002/humu.21529
- By:
- Publication type:
- Article
Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2023, v. 61, n. 10, p. 1792, doi. 10.1515/cclm-2022-1236
- By:
- Publication type:
- Article