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hydracrylic acid and Amino Acid Metabolism Disorders, Inborn

hydracrylic acid has been researched along with Amino Acid Metabolism Disorders, Inborn in 10 studies

Research

Studies (10)

TimeframeStudies, this research(%)All Research%
pre-19904 (40.00)18.7374
1990's2 (20.00)18.2507
2000's0 (0.00)29.6817
2010's4 (40.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Baráth, Á; Baumgartner, MR; Fingerhut, R; Gramer, G; Hoffmann, GF; Klinke, G; Kölker, S; Monostori, P; Okun, JG; Richter, S1
Afroze, B; Ali, ZZ; Fatimah, M; Jafri, L; Jamil, A; Khan, AH; Majid, H; Yusufzai, N1
Acquaviva, C; Arnoux, JB; Barbier, V; Benoist, JF; Boddaert, N; Bonnefont, JP; de Lonlay, P; Desguerre, I; Habarou, F; Nizon, M; Ottolenghi, C; Rabier, D; Touati, G; Valayannopoulos, V1
Hata, I; Shigematsu, Y; Tajima, G1
Congdon, PJ; Green, A; Haigh, D; Pollitt, RJ; Smith, R1
DelValle, JA; García, MJ; Jiménez, A; Merinero, B; Neustadt, G; Omeñaca, F; Quero, J; Ugarte, M1
Bachmann, C; Boulat, O; Colombo, JP; Meyrat, BJ; Pilloud, P1
Chalmers, RA; Thompson, GN1
Chalmers, RA; Hind, AJ; Iles, RA1
Green, A; Pollitt, RJ; Smith, R1

Other Studies

10 other study(ies) available for hydracrylic acid and Amino Acid Metabolism Disorders, Inborn

ArticleYear
Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.
    PloS one, 2017, Volume: 12, Issue:9

    Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Liquid; Citrates; Dried Blood Spot Testing; Female; Humans; Infant, Newborn; Lactic Acid; Male; Mass Screening; Mass Spectrometry; Methylmalonic Acid; Propionic Acidemia

2017
Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan.
    JPMA. The Journal of the Pakistan Medical Association, 2018, Volume: 68, Issue:4

    Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Citrates; Cross-Sectional Studies; Female; Glycine; Humans; Infant; Lactic Acid; Male; Methionine; Mitochondrial Diseases; Pakistan; Tertiary Care Centers; Urinalysis; Valerates; Vitamin B 12 Deficiency

2018
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
    Orphanet journal of rare diseases, 2013, Sep-23, Volume: 8

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; Lactic Acid; Male; Methylmalonic Acid; Propionic Acidemia; Radiography; Young Adult

2013
Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria.
    Journal of inherited metabolic disease, 2010, Volume: 33, Issue:Suppl 2

    Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Blood Specimen Collection; Carnitine; Case-Control Studies; Chromatography, Liquid; False Positive Reactions; Gas Chromatography-Mass Spectrometry; Glycine; Humans; Infant, Newborn; Isovaleryl-CoA Dehydrogenase; Japan; Lactic Acid; Metabolism, Inborn Errors; Methylmalonic Acid; Neonatal Screening; Pilot Projects; Predictive Value of Tests; Retrospective Studies; Severity of Illness Index; Tandem Mass Spectrometry

2010
Hypermethioninaemia and 3-hydroxyisobutyric aciduria in an apparently healthy baby.
    Journal of inherited metabolic disease, 1981, Volume: 4, Issue:2

    Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Aminoisobutyric Acids; Humans; Hydroxybutyrates; Infant; Isomerism; Lactates; Lactic Acid; Methionine; Thymine; Valine

1981
Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency.
    Journal of inherited metabolic disease, 1982, Volume: 5, Issue:2

    Topics: 3-Hydroxybutyric Acid; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carboxy-Lyases; Citrates; Female; Fibroblasts; Food, Formulated; Humans; Hydroxybutyrates; Infant, Newborn; Lactates; Lactic Acid; Methylmalonyl-CoA Decarboxylase; Pentanoic Acids; Propionates

1982
Pitfalls in aminoacid and organic acid analysis: 3-hydroxypropionic aciduria.
    European journal of pediatrics, 1994, Volume: 153, Issue:7 Suppl 1

    Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Infant, Newborn; Lactates; Lactic Acid; Male; Specimen Handling

1994
Increased urinary metabolite excretion during fasting in disorders of propionate metabolism.
    Pediatric research, 1990, Volume: 27, Issue:4 Pt 1

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Citrates; Fasting; Fatty Acids; Glycine; Humans; Infant; Lactates; Lactic Acid; Methylmalonic Acid; Propionates

1990
Methylmalonic aciduria and propionic acidaemia studied by proton nuclear magnetic resonance spectroscopy.
    Clinica chimica acta; international journal of clinical chemistry, 1986, Dec-15, Volume: 161, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Betaine; Creatine; Female; Gas Chromatography-Mass Spectrometry; Glycine; Humans; Infant; Infant, Newborn; Lactates; Lactic Acid; Magnetic Resonance Spectroscopy; Male; Malonates; Methylmalonic Acid; Propionates

1986
Excessive excretion of beta-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R- and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes.
    Journal of inherited metabolic disease, 1985, Volume: 8, Issue:2

    Topics: Alanine; Aldehyde Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Aminoisobutyric Acids; beta-Alanine; Child, Preschool; Humans; Hydroxybutyrates; Lactates; Lactic Acid; Male; Malonate-Semialdehyde Dehydrogenase (Acetylating); Malonates; Malondialdehyde; Methylmalonate-Semialdehyde Dehydrogenase (Acylating); Valerates

1985