Found: 14
Select item for more details and to access through your institution.
Redox State and O<sub>2</sub> •- Production in Neutrophils of Crohn's Disease Patients.
- Published in:
- Experimental Biology & Medicine, 2006, v. 231, n. 2, p. 186, doi. 10.1177/153537020623100209
- By:
- Publication type:
- Article
Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies.
- Published in:
- Scientific World Journal, 2013, p. 1, doi. 10.1155/2013/625824
- By:
- Publication type:
- Article
Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI).
- Published in:
- BMC Pediatrics, 2012, v. 12, n. 1, p. 144, doi. 10.1186/1471-2431-12-144
- By:
- Publication type:
- Article
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 1, p. 92, doi. 10.1007/s00415-018-9084-4
- By:
- Publication type:
- Article
Involvement of the Tyrosine Phosphorylation on GSH Transport in NIH3T3 Fibroblasts.
- Published in:
- IUBMB Life, 2003, v. 55, n. 3, p. 159, doi. 10.1080/1521654031000116040
- By:
- Publication type:
- Article
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0105-9
- By:
- Publication type:
- Article
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Galactosialidosis: review and analysis of CTSA gene mutations.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-114
- By:
- Publication type:
- Article
New clinical and molecular insights on Barth syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-27
- By:
- Publication type:
- Article
New clinical and molecular insights on Barth syndrome.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Galactosialidosis: review and analysis of CTSA gene mutations.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Human Acid β-Glucosidase Inhibition by Carbohydrate Derived Iminosugars: Towards New Pharmacological Chaperones for Gaucher Disease.
- Published in:
- ChemBioChem, 2015, v. 16, n. 14, p. 2054, doi. 10.1002/cbic.201500292
- By:
- Publication type:
- Article
Safety use of high frequency oscillatory ventilation in transport of newborn infants affected by severe respiratory failure: preliminary data in central Tuscany.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations.
- Published in:
- Human Mutation, 2015, v. 36, n. 3, p. 357, doi. 10.1002/humu.22751
- By:
- Publication type:
- Article