Page last updated: 2024-08-25

beta-hydroxyisovaleric acid and Carboxylase Deficiency, Multiple, Neonatal Form

beta-hydroxyisovaleric acid has been researched along with Carboxylase Deficiency, Multiple, Neonatal Form in 2 studies

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Barshop, BA; Gangoiti, J; Nyhan, WL; Willis, M1
Aoki, Y; Baumgartner, ER; Duran, M; Muhle, H; Santer, R; Stephani, U; Suormala, T; Suzuki, Y; Yang, X1

Other Studies

2 other study(ies) available for beta-hydroxyisovaleric acid and Carboxylase Deficiency, Multiple, Neonatal Form

ArticleYear
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency.
    Journal of inherited metabolic disease, 2009, Volume: 32 Suppl 1

    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.
    Molecular genetics and metabolism, 2003, Volume: 79, Issue:3

    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