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alpha-methyl-beta-hydroxybutyrate and Amino Acid Metabolism Disorders, Inborn

alpha-methyl-beta-hydroxybutyrate has been researched along with Amino Acid Metabolism Disorders, Inborn in 9 studies

Research

Studies (9)

TimeframeStudies, this research(%)All Research%
pre-19904 (44.44)18.7374
1990's0 (0.00)18.2507
2000's3 (33.33)29.6817
2010's2 (22.22)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Bancel, LP; Dessein, AF; Germain, N; Guemann, AS; Joncquel Chevalier Curt, M1
Baldellou, A; Briones, P; Campistol, J; Cortés, N; Delpiccolo, C; Fernández, C; Fons, C; Fuentes-Castelló, MA; García-Villoria, J; González, I; Hernández-Gonzalez, A; Messeguer, A; Navarro-Sastre, A; Pérez-Cerdá, C; Ribes, A1
Arica, SG; Arica, V; Dag, H; Gülbayzar, S; Obut, O; Onur, H1
Fukao, T; Hazama, A; Kohno, Y; Kondo, M; Kondo, N; Kubo, T; Matsuo, N; Sakura, N; Shigematsu, Y; Yamaga, H; Yamaguchi, S; Zhang, GX1
Forstner, R; Sass, JO; Sperl, W1
Bartlett, K; Middleton, B1
Jakobs, C; Nyhan, WL; Sweetman, L1
Condado, I; DelValle, JA; Garcia, MJ; Jiménez, A; López, O; Merinero, B; Solaguren, R; Ugarte, M1
DelValle, JA; García, MJ; Jiménez, A; Merinero, B; Neustadt, G; Omeñaca, F; Quero, J; Ugarte, M1

Other Studies

9 other study(ies) available for alpha-methyl-beta-hydroxybutyrate and Amino Acid Metabolism Disorders, Inborn

ArticleYear
Abnormal Ketone Bodies in a 22-Month-Old Boy Presenting with Recurrent Vomiting and Metabolic Acidosis.
    Clinical chemistry, 2019, Volume: 65, Issue:11

    Topics: Acetoacetates; Acetyl-CoA C-Acyltransferase; Acidosis; Amino Acid Metabolism, Inborn Errors; Glycine; Humans; Hydroxybutyrates; Infant; Ketone Bodies; Male; Vomiting

2019
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.
    Clinical biochemistry, 2009, Volume: 42, Issue:1-2

    Topics: 3-Hydroxyacyl CoA Dehydrogenases; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Female; Glycine; Heredodegenerative Disorders, Nervous System; Humans; Hydroxybutyrates; Infant; Infant, Newborn; Male; Valerates

2009
Beta-ketothiolase deficiency brought with lethargy: case report.
    Human & experimental toxicology, 2011, Volume: 30, Issue:10

    Topics: 3-Hydroxybutyric Acid; Acetyl-CoA C-Acyltransferase; Amino Acid Metabolism, Inborn Errors; Carnitine; Female; Glycine; Humans; Hydroxybutyrates; Infant; Ketosis; Lethargy

2011
The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity.
    Journal of inherited metabolic disease, 2003, Volume: 26, Issue:5

    Topics: Acetoacetates; Acetyl-CoA C-Acetyltransferase; Amino Acid Metabolism, Inborn Errors; Carnitine; Humans; Hydroxybutyrates; Infant; Isoleucine; Ketone Bodies; Male; Mitochondria; Mutation

2003
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease.
    Brain & development, 2004, Volume: 26, Issue:1

    Topics: 3-Hydroxyacyl CoA Dehydrogenases; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Brain; Child, Preschool; Humans; Hydroxybutyrates; Infant; Infant, Newborn; Isoleucine; Magnetic Resonance Imaging; Neurodegenerative Diseases

2004
The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria.
    Clinica chimica acta; international journal of clinical chemistry, 1983, Mar-14, Volume: 128, Issue:2-3

    Topics: Acetoacetates; Acetyl-CoA C-Acetyltransferase; Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Child, Preschool; Fibroblasts; Humans; Hydroxybutyrates; Isoleucine

1983
Hydroxy acid metabolites of branched-chain amino acids in amniotic fluid.
    Clinica chimica acta; international journal of clinical chemistry, 1984, Jul-16, Volume: 140, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Amniotic Fluid; Caproates; Female; Gas Chromatography-Mass Spectrometry; Humans; Hydroxy Acids; Hydroxybutyrates; Maple Syrup Urine Disease; Methylmalonic Acid; Pentanoic Acids; Pregnancy; Prenatal Diagnosis; Valerates

1984
Late onset type of propionic acidaemia: case report and biochemical studies.
    Journal of inherited metabolic disease, 1981, Volume: 4, Issue:2

    Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Carbon-Carbon Ligases; Female; Glycine; Humans; Hydroxybutyrates; Infant; Ketosis; Ligases; Propionates

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