Compounds > aspartic acid
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aspartic acid and Abnormalities, Multiple

aspartic acid has been researched along with Abnormalities, Multiple in 8 studies

Research

Studies (8)

TimeframeStudies, this research(%)All Research%
pre-19903 (37.50)18.7374
1990's0 (0.00)18.2507
2000's3 (37.50)29.6817
2010's2 (25.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Alladi, S; Griffiths, PD; Hart, AR; Paley, MN; Smith, MF; Whitby, EH; Wilkinson, S1
Dingerdissen, H; Karagiannis, K; Mazumder, R; Motwani, M; Simonyan, V1
Jamroz, E; Kluczewska, E; Marszał, E; Paprocka, J; Sokół, M1
Anckarsäter, H; Betancur, C; Buxbaum, JD; Cai, G; Chaste, P; Gillberg, C; Goldsmith, J; Hollander, E; Leboyer, M; Nygren, G; Rastam, M; Reichert, J; Silverman, JM; Smith, CJ; Verloes, A1
Becker, C; Gehler, J; Hartmann, J; Sewell, AC; Spranger, J1
Burn, J; Davidson, HR; Diaz, GA; Gelb, BD; Goodship, J; Pierpont, ME; Satoda, M; Zhao, F1
Antich, J; Ferre, C; Sabater, J1
Mattsson, K; Palo, J1

Other Studies

8 other study(ies) available for aspartic acid and Abnormalities, Multiple

ArticleYear
Diffusion-weighted imaging and magnetic resonance proton spectroscopy following preterm birth.
    Clinical radiology, 2014, Volume: 69, Issue:8

    Topics: Abnormalities, Multiple; Aspartic Acid; Brain; Brain Chemistry; Brain Mapping; Cohort Studies; Developmental Disabilities; Diffusion Magnetic Resonance Imaging; Ductus Arteriosus, Patent; Female; Humans; Infant; Infant, Premature; Infant, Premature, Diseases; Magnetic Resonance Spectroscopy; Male; Myelin Sheath; Nerve Fibers, Myelinated; Pregnancy; Premature Birth; Prospective Studies

2014
Proteome-wide analysis of nonsynonymous single-nucleotide variations in active sites of human proteins.
    The FEBS journal, 2013, Volume: 280, Issue:6

    Topics: Abnormalities, Multiple; Amino Acid Substitution; Arginine; Aspartic Acid; Carbohydrate Metabolism; Catalytic Domain; Cluster Analysis; Enzyme Activation; Genetic Variation; Genome, Human; Glycogen Storage Disease; Hearing Loss; Histidine; Humans; Lacrimal Apparatus Diseases; Metabolomics; Molecular Sequence Annotation; Phenylalanine; Polymorphism, Single Nucleotide; Proteome; Proteomics; Structure-Activity Relationship; Syndactyly; Tooth Abnormalities; Tyrosine

2013
Leukoencephalopathy with macrocephaly and mild clinical course.
    Neurologia i neurochirurgia polska, 2004, Volume: 38, Issue:1 Suppl 1

    Topics: Abnormalities, Multiple; Aspartic Acid; Brain; Child; Child, Preschool; Choline; Creatinine; Dementia, Vascular; Female; Glycine; Humans; Inositol; Magnetic Resonance Imaging; Male; Motor Skills Disorders; Optic Atrophy; Syndrome

2004
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2007, Jun-05, Volume: 144B, Issue:4

    Topics: Abnormalities, Multiple; Adolescent; Adult; Amino Acid Sequence; Asparagine; Aspartic Acid; Autistic Disorder; Child; Child, Preschool; Craniofacial Abnormalities; DNA Mutational Analysis; Exons; Female; Genetic Testing; Humans; Introns; Male; Molecular Sequence Data; Mutation; PTEN Phosphohydrolase; Syndrome

2007
Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family.
    Helvetica paediatrica acta, 1981, Volume: 36, Issue:2

    Topics: Abnormalities, Multiple; Acetylglucosamine; Adult; Amidohydrolases; Aspartic Acid; Aspartylglucosaminuria; Child; Fabry Disease; Facial Bones; Female; Glucosamine; Humans; Intellectual Disability; Italy; Male; Pedigree; Skull

1981
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.
    Nature genetics, 2000, Volume: 25, Issue:1

    Topics: 3T3 Cells; Abnormalities, Multiple; Alanine; Amino Acid Sequence; Animals; Aspartic Acid; Cell Line; DNA-Binding Proteins; Ductus Arteriosus, Patent; Face; Hand Deformities, Congenital; Mice; Molecular Sequence Data; Mutation; Neural Crest; Syndrome; Transcription Factor AP-2; Transcription Factors

2000
Abnormal levels of aspartic acid, serine and cystine in the plasma in three cases of Rubinstein Taybi's syndrome.
    Clinica chimica acta; international journal of clinical chemistry, 1972, Volume: 36, Issue:1

    Topics: Abnormalities, Multiple; Aspartic Acid; Chromatography, Ion Exchange; Cystine; Female; Humans; Intellectual Disability; Rubinstein-Taybi Syndrome; Serine

1972
Eleven new cases of aspartylglucosaminuria.
    Journal of mental deficiency research, 1970, Volume: 14, Issue:2

    Topics: Abnormalities, Multiple; Acetamides; Adolescent; Adult; Aspartic Acid; Chromatography; Electroencephalography; Female; Glycosuria; Humans; Hyperkinesis; Intellectual Disability; Lymphocytes; Male; Metabolism, Inborn Errors

1970