Found: 14
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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
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- 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
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
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- Publication type:
- Article
New clinical and molecular insights on Barth syndrome.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 2, p. 345, doi. 10.3390/ijms19020345
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- Publication type:
- Article
Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2016, v. 54, n. 4, p. 627, doi. 10.1515/cclm-2015-0436
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- Publication type:
- Article
SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 5, p. 1383, doi. 10.1007/s11011-017-0058-5
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- Publication type:
- Article
Silent increase of urinary ethylmalonic acid is an indicator of nonspecific brain dysfunction.
- Published in:
- NMR in Biomedicine, 2010, v. 23, n. 4, p. 353, doi. 10.1002/nbm.1468
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- Publication type:
- Article
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1708, doi. 10.1038/ejhg.2015.50
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- Publication type:
- Article
The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2009, v. 23, n. 23, p. 3891, doi. 10.1002/rcm.4289
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- Publication type:
- Article
Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a Boy with Short-Chain AcylCoA Dehydrogenase Deficiency.
- Published in:
- 2010
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- Publication type:
- Case Study
Overexpression of the 18 kDa and 22/24 kDa FGF-2 isoforms results in differential drug resistance and amplification potential.
- Published in:
- Journal of Cellular Physiology, 2002, v. 193, n. 1, p. 64, doi. 10.1002/jcp.10152
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- Publication type:
- Article
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 12, p. 1117, doi. 10.1002/pd.1291
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- Publication type:
- Article
The successful inclusion of ADA SCID in Tuscany expanded newborn screening program.
- Published in:
- 2021
- By:
- Publication type:
- Letter