Found: 7
Select item for more details and to access through your institution.
Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5805, doi. 10.1093/hmg/ddu298
- By:
- Publication type:
- Article
Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria.
- Published in:
- Science Translational Medicine, 2018, v. 10, n. 459, p. 1, doi. 10.1126/scitranslmed.aat7467
- By:
- Publication type:
- Article
Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 1789, doi. 10.3390/ijms22041789
- By:
- Publication type:
- Article
A molecular signature for the metabolic syndrome by urine metabolomics.
- Published in:
- Cardiovascular Diabetology, 2021, v. 20, n. 1, p. 1, doi. 10.1186/s12933-021-01349-9
- By:
- Publication type:
- Article
CHEK2 1100delC is present in familial breast cancer cases of the Basque Country.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Bioengineered PBGD variant improves the therapeutic index of gene therapy vectors for acute intermittent porphyria.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 21, p. 3688, doi. 10.1093/hmg/ddy283
- By:
- Publication type:
- Article
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 8, p. 1565, doi. 10.1093/hmg/ddx067
- By:
- Publication type:
- Article