Found: 9
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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
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.
- Published in:
- Acta Ophthalmologica (1755375X), 2017, v. 95, n. 8, p. e776, doi. 10.1111/aos.13441
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- 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
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- Publication type:
- 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
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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:
- 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
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- 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
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>.
- Published in:
- Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01271-1
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- Publication type:
- Article
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
- Published in:
- Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01117-2
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- Publication type:
- Article