Page last updated: 2024-08-17

aspartic acid and Ataxia with Lactic Acidosis

aspartic acid has been researched along with Ataxia with Lactic Acidosis in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (33.33)18.2507
2000's2 (66.67)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Boubriak, II; Brown, GK; Brown, RM; Head, RA; Leonard, JV1
Eusébio, F; Gaspar, A; João Silva, M; Pinheiro, A; Rivera, I; Tavares de Almeida, I1
De Meirleir, L; Heerschap, A; Rubio-Gozalbo, ME; Smeitink, JA; Thijssen, HO; Trijbels, JM1

Other Studies

3 other study(ies) available for aspartic acid and Ataxia with Lactic Acidosis

ArticleYear
A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1.
    Human mutation, 2003, Volume: 22, Issue:6

    Topics: Amino Acid Substitution; Aspartic Acid; Catalytic Domain; DNA Mutational Analysis; DNA, Complementary; Fatal Outcome; Female; Fibroblasts; Glutamic Acid; Humans; Infant, Newborn; Male; Models, Molecular; Mutation; Pyruvate Dehydrogenase (Lipoamide); Pyruvate Dehydrogenase Complex Deficiency Disease

2003
Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation.
    European journal of pediatrics, 2009, Volume: 168, Issue:1

    Topics: Arginine; Aspartic Acid; Blotting, Western; Child; DNA Mutational Analysis; Gene Expression; Humans; Male; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Pyruvate Dehydrogenase (Lipoamide); Pyruvate Dehydrogenase Complex Deficiency Disease

2009
Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency.
    Magnetic resonance imaging, 1999, Volume: 17, Issue:6

    Topics: Alanine; Aspartic Acid; Binding Sites; Brain; Choline; Corpus Striatum; Creatine; Humans; Infant; Lactic Acid; Magnetic Resonance Imaging; Male; Mutation; Occipital Lobe; Pyruvate Dehydrogenase Complex Deficiency Disease; Thiamine

1999