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Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotype.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 3, p. 144, doi. 10.1002/jmd2.12419
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- Publication type:
- Article
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 4, p. 468, doi. 10.1111/cge.14022
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- Publication type:
- Article
Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 13, doi. 10.3390/ijns8010013
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- Publication type:
- Article
Cannabinoid Hyperemesis.
- Published in:
- 2008
- By:
- Publication type:
- Letter