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n-acetylaspartic acid and Abnormalities, Autosome

n-acetylaspartic acid has been researched along with Abnormalities, Autosome in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (50.00)18.2507
2000's2 (50.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Christen, HJ; Frahm, J; Hanefeld, F; Holzbach, U; Kruse, B; Wilichowski, E1
Harada, K; Imai, K; Kaminaga, T; Mano, T; Nagai, T; Okada, S; Ono, J; Rizzo, WB; Sakurai, K1
Matalon, R; Penzien, JM; Rady, PL; Tyring, SK; Vargas, T1
Gabis, L; Huang, W; Lenn, N; Parton, P; Roche, P; Tudorica, A1

Other Studies

4 other study(ies) available for n-acetylaspartic acid and Abnormalities, Autosome

ArticleYear
Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy.
    Neuropediatrics, 1993, Volume: 24, Issue:5

    Topics: Aspartic Acid; Blood Glucose; Brain; Brain Diseases, Metabolic; Child; Child, Preschool; Choline; Chromosome Aberrations; Chromosome Disorders; Creatine; Diagnosis, Differential; Female; Follow-Up Studies; Genes, Recessive; Humans; Infant; Inositol; Lactates; Lactic Acid; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Neurologic Examination; Neuromuscular Diseases

1993
Proton MR spectroscopy of Sjögren-Larsson's syndrome.
    AJNR. American journal of neuroradiology, 1999, Volume: 20, Issue:9

    Topics: Aldehyde Oxidoreductases; Aspartic Acid; Brain; Brain Diseases, Metabolic, Inborn; Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Consanguinity; Creatine; Fatty Alcohols; Female; Genes, Recessive; Humans; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Phytol; Sensitivity and Specificity; Sjogren-Larsson Syndrome; Stearic Acids

1999
Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2000, Volume: 4, Issue:1

    Topics: Amidohydrolases; Aspartic Acid; Canavan Disease; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Consanguinity; Exons; Female; Genes, Recessive; Humans; Introns; Mutation; Pedigree; Polymorphism, Restriction Fragment Length; RNA Splicing; Sequence Analysis, DNA

2000
In vivo 1H magnetic resonance spectroscopic measurement of brain glycine levels in nonketotic hyperglycinemia.
    Journal of neuroimaging : official journal of the American Society of Neuroimaging, 2001, Volume: 11, Issue:2

    Topics: Aspartic Acid; Brain; Brain Diseases, Metabolic; Choline; Chromosome Aberrations; Chromosome Disorders; Creatine; Follow-Up Studies; Genes, Recessive; Glutamic Acid; Glutamine; Glycine; Humans; Hyperglycinemia, Nonketotic; Infant; Infant, Newborn; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male

2001