beta-hydroxyisovaleric acid has been researched along with Carboxylase Deficiency, Multiple, Neonatal Form in 2 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 2 (100.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Barshop, BA; Gangoiti, J; Nyhan, WL; Willis, M | 1 |
Aoki, Y; Baumgartner, ER; Duran, M; Muhle, H; Santer, R; Stephani, U; Suormala, T; Suzuki, Y; Yang, X | 1 |
2 other study(ies) available for beta-hydroxyisovaleric acid and Carboxylase Deficiency, Multiple, Neonatal Form
Article | Year |
---|---|
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency.
Topics: Adult; Biotin; Carnitine; False Positive Reactions; Female; Holocarboxylase Synthetase Deficiency; Humans; Infant, Newborn; Male; Maternal-Fetal Exchange; Neonatal Screening; Pregnancy; Pregnancy Complications; Valerates | 2009 |
Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.
Topics: Age of Onset; Biotin; Carbon-Carbon Ligases; Carbon-Nitrogen Ligases; Child; DNA Mutational Analysis; Female; Genes, Recessive; Holocarboxylase Synthetase Deficiency; Humans; Methylmalonyl-CoA Decarboxylase; Mutation; Phenotype; Pyruvate Carboxylase; Reverse Transcriptase Polymerase Chain Reaction; RNA Splicing; Valerates | 2003 |