4-hydroxybutyric acid has been researched along with Metabolism, Inborn Errors in 9 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (11.11) | 18.2507 |
| 2000's | 7 (77.78) | 29.6817 |
| 2010's | 1 (11.11) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Forni, S; Gibson, KM; Pearl, PL; Sweetman, L; Yu, Y | 1 |
| Hirose, S; Inoue, Y; Ito, A; Kuhara, T; Ohfu, M; Ohse, M; Shinka, T | 1 |
| Yamaguchi, S | 1 |
| Hirose, S; Kuhara, T; Ohfu, M; Shinka, T | 1 |
| Ergezinger, K; Frauendienst-Egger, G; Gibson, KM; Jeschke, R; Korall, H; Schuster, VH | 1 |
| Engelke, UF; Haas, D; Hoffmann, GF; Jakobs, C; Rating, D; Salomons, GS; Wevers, RA; Wolf, NI | 1 |
| Bennett, MJ; Ganesh, J; Gibson, KM; Jakobs, C; Knerr, I; Myers, SM; Salomons, GS | 1 |
| Chambliss, KL; Gibson, KM; Hinson, DD; Jakobs, C; Malaspina, P; Novelletto, A; Trettel, F | 1 |
| Al-Essa, MA; Bakheet, SM; Ozand, PT; Patay, ZJ; Powe, JE | 1 |
1 review(s) available for 4-hydroxybutyric acid and Metabolism, Inborn Errors
| Article | Year |
|---|---|
[Organic acid disorders: cerebral organic acidemia].
Topics: Brain Diseases, Metabolic; Canavan Disease; Glutarates; Glycerol; Humans; Hydroxybutyrates; Infant; Infant, Newborn; Intellectual Disability; Metabolism, Inborn Errors; Mevalonic Acid; Pyrrolidonecarboxylic Acid; Seizures | 2002 |
8 other study(ies) available for 4-hydroxybutyric acid and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Quantitation of gamma-hydroxybutyric acid in dried blood spots: feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency.
Topics: gamma-Aminobutyric Acid; Humans; Hydroxybutyrates; Infant, Newborn; Mass Spectrometry; Metabolism, Inborn Errors; Neonatal Screening; Reproducibility of Results; Succinate-Semialdehyde Dehydrogenase | 2013 |
Rapid and sensitive detection of urinary 4-hydroxybutyric acid and its related compounds by gas chromatography-mass spectrometry in a patient with succinic semialdehyde dehydrogenase deficiency.
Topics: Aldehyde Oxidoreductases; Gas Chromatography-Mass Spectrometry; Humans; Hydroxybutyrates; Infant; Metabolism, Inborn Errors; Sensitivity and Specificity; Succinate-Semialdehyde Dehydrogenase | 2002 |
Effect of valproic acid on the urinary metabolic profile of a patient with succinic semialdehyde dehydrogenase deficiency.
Topics: Aldehyde Oxidoreductases; Anticonvulsants; Gas Chromatography-Mass Spectrometry; Humans; Hydroxybutyrates; Infant; Male; Metabolism, Inborn Errors; Reproducibility of Results; Succinate-Semialdehyde Dehydrogenase; Valproic Acid | 2003 |
Monitoring of 4-hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency.
Topics: Aldehyde Oxidoreductases; Child; Developmental Disabilities; Enzyme Inhibitors; Female; Humans; Hydroxybutyrates; Metabolism, Inborn Errors; Succinate-Semialdehyde Dehydrogenase; Treatment Outcome; Vigabatrin | 2003 |
Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency.
Topics: Aldehyde Oxidoreductases; Child; Consciousness Disorders; Humans; Hydroxybutyrates; Hypnotics and Sedatives; Male; Metabolism, Inborn Errors; Succinate-Semialdehyde Dehydrogenase | 2004 |
Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: a unique case of gamma-hydroxybutyric aciduria and Williams syndrome.
Topics: Aortic Stenosis, Supravalvular; Developmental Disabilities; Diagnosis, Differential; Disorders of Excessive Somnolence; Failure to Thrive; Female; gamma-Aminobutyric Acid; Humans; Hydroxybutyrates; Infant; Metabolism, Inborn Errors; Succinate-Semialdehyde Dehydrogenase; Williams Syndrome | 2007 |
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
Topics: Aldehyde Oxidoreductases; Amino Acid Sequence; Base Sequence; Cells, Cultured; Consanguinity; Exons; Female; Genetic Carrier Screening; Humans; Hydroxybutyrates; Introns; Lymphocytes; Male; Metabolism, Inborn Errors; Molecular Sequence Data; Nuclear Family; Recombinant Proteins; Reverse Transcriptase Polymerase Chain Reaction; Sequence Deletion; Succinate-Semialdehyde Dehydrogenase | 1998 |
Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI of the brain and biochemical observations in a patient with 4-hydroxybutyric aciduria; a progressive neurometabolic disease.
Topics: Brain; Child, Preschool; Dextromethorphan; Fluorodeoxyglucose F18; Humans; Hydroxybutyrates; Magnetic Resonance Imaging; Male; Metabolism, Inborn Errors; Saudi Arabia; Tomography, Emission-Computed; Vigabatrin | 2000 |