Found: 6
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Galactose epimerase deficiency: lessons from the GalNet registry.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 5, p. 615, doi. 10.1111/cge.13508
- By:
- Publication type:
- Article
Lipopolysaccharide (LPS)-induced septic shock causes profound changes in myocardial energy metabolites in pigs.
- Published in:
- Metabolomics, 2018, v. 14, n. 10, p. 1, doi. 10.1007/s11306-018-1433-x
- By:
- Publication type:
- Article
New CTSA mutation in early infantile galactosialidosis.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Development of electrospray ionization tandem mass spectrometry methods for the study of a high number of urine markers of inborn errors of metabolism.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2012, v. 26, n. 18, p. 2131, doi. 10.1002/rcm.6325
- By:
- Publication type:
- Article
Congenital Hypothyroidism with Neurological and Respiratory Alterations: A Case Detected Using a Variable Diagnostic Threshold for Tsh.
- Published in:
- 2011
- By:
- Publication type:
- Case Study