Page last updated: 2024-08-17

aspartic acid and Symptom Cluster

aspartic acid has been researched along with Symptom Cluster in 49 studies

Research

Studies (49)

Timeframe	Studies, this research(%)	All Research%
pre-1990	15 (30.61)	18.7374
1990's	8 (16.33)	18.2507
2000's	20 (40.82)	29.6817
2010's	4 (8.16)	24.3611
2020's	2 (4.08)	2.80

Authors

Authors	Studies
Hoashi, T; Kanda, N; Okazaki, S; Saeki, H	1
Baker, RE; Basrai, MA; Corbett, AH; Enyenihi, L; Farchi, D; Fasken, MB; Hess, L; Kremsky, I; Lee, RS; Leung, SW; Sterrett, MC; Strassler, SE; van Hoof, A; Withers, ES	1
Amato, MP; Bartolozzi, ML; Battaglini, M; De Stefano, N; Gasperini, C; Giorgio, A; Hakiki, B; Malentacchi, G; Portaccio, E; Rossi, F; Santangelo, M; Stromillo, ML	1
Abe, Y; Ishihara, T; Katayama, S; Kubo, J; Kumagai, T; Soeda, T; Tanno, Y; Yamamoto, T	1
Barbaro, M; Jonsson, M; Kucinski, T; Lasorsa, FM; Naess, K; Palmieri, F; Pierri, CL; Sterky, FH; Töhönen, V; Wedell, A; Wibom, R	1
Bau, AE; de Zwart-Storm, EA; Foelster-Holst, R; Frank, J; Graziadio, C; Kamps, MA; Martin, PE; Paskulin, GA; Rosa, RF; van Geel, M; van Steensel, MA; Zen, PR	1
Günther, C; Lee-Kirsch, MA; Silver, RM; Tüngler, V; Walkenhorst, H	1
Buxbaum, JD; Darvish, H; Frucht, S; Hubert, B; Karkheiran, S; Krebs, CE; Makarov, V; Nilipour, Y; Paisán-Ruiz, C; Shahidi, GA	1
Braun, R; Handschug, K; Huebner, A; Kaindl, AM	1
Comi, G; Falini, A; Filippi, M; Ghezzi, A; Martinelli, V; Mezzapesa, DM; Rocca, MA; Scotti, G	1
FORMICA, PE	1
RABASSINI, A	1
Aronheim, A; Assaraf, YG; Baron, D; Drori, S	1
Brown, P; Davie, C; MacManus, D; McLean, MA; Tijssen, MA	1
Battini, R; Bianchi, MC; Cheong, J; Cioni, G; Cowan, FM; Cox, IJ; Robertson, NJ; Stafler, P; Tosetti, M	1
Berkovic, SF; Coleman, LT; Freeman, JL; Harvey, AS; Jackson, GD; Kean, MJ; Rosenfeld, JV; Wellard, RM	1
Jamroz, E; Kluczewska, E; Marszał, E; Paprocka, J; Sokół, M	1
Barker, PB; Bibat, G; Costa Leite, C; Costa, MO; Fatemi, A; Horská, A; Kok, F; Lacerda, MT; Nagae-Poetscher, LM; Naidu, S; Philippart, M; Rosemberg, S	1
Chard, DT; Dalton, CM; Fernando, KT; Gordon, RM; MacManus, DG; McLean, MA; Miller, DH; Miszkiel, KA; Plant, GT; Thompson, AJ	1
Meiners, LC; Oudkerk, M; Rake, JP; Sijens, PE; Soorani-Lunsing, RJ; Verbruggen, KT	1
Biaggioni, I; Byrne, DW; Cascorbi, I; Garland, EM; Harris, PA; Jiang, L; Phillips, JA; Robertson, D; Rüdiger, H; Stanton, K; Williams, SM; Winker, R	1
Boltshauser, E; Huisman, TA; Klein, A; Straube, T; Werner, B	1
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, A	1
Comi, G; Filippi, M; Judica, E; Martinelli, V; Pulizzi, A; Rovaris, M; Sormani, MP	1
Birk, OS; Elbedour, K; Hershkowitz, R; Landau, D; Manor, E; Narkis, G; Ofir, R; Volokita, M	1
Halsey, MJ; Meldrum, BS; Wardley-Smith, B	1
Perry, TL	1
Plaitakis, A	1
Andermann, F; Arnold, DL; Cendes, F; Silver, K	1
Bartolone, L; Benvenga, S; Filetti, S; Pontecorvi, A; Regalbuto, C; Trimarchi, F	1
Ala-Kokko, L; Haataja, L; Kääriäinen, H; Kivirikko, KI; Körkkö, J; Prockop, DJ; Ritvaniemi, P	1
Amir, N; Elpeleg, ON; Fattal, A; Gross-Tsur, V; Harel, S; Hemli, JA; Luder, AS; Zelnik, N	1
Barjhoux, L; Begeot, M; Despert, F; Durand, P; Esteva, B; Faury, D; Jaillard, C; Naville, D; Saez, JM	1
Christen, HJ; Frahm, J; Hanefeld, FA; Kruse, B; Pouwels, PJ	1
Carman, G; Donaldson, E; Little, M	1
Burn, J; Davidson, HR; Diaz, GA; Gelb, BD; Goodship, J; Pierpont, ME; Satoda, M; Zhao, F	1
Barker, PB; Beauchamp, NJ; Eichler, FS; Wang, P; Wityk, RJ	1
Berry, K; Currier, RD; Hansen, S; Perry, TL	1
Ikeda, H; Otsuki, S; Rassouli, ME	1
Arrowsmith, WA; Littlewood, JM; Payne, RB	1
Kelley, RI; Stamas, JN	1
Costa, P; Kemeny, N; Kurtz, RC; Martin, D; Murray, M; Niedzwiecki, D; Seiter, K; Urmacher, C	1
Halsey, MJ; Meldrum, BS; Millan, MH; Wardley-Smith, B	1
Baryshnikov, VA; Ermolina, LA; Turova, NF	1
Divry, P; Echenne, B; Gay, C; Macabeo, V; Rapin, F; Vianey-Liaud, C	1
Autio, S; Palo, J; Perheentupa, J	1
Autio, S; Järvinen, H; Visakorpi, JK	1
Buxton, BH; Curzon, G; Fenton, G; Kantamaneni, BD; Parkes, JD; Record, C; Struthers, G	1
de Groot, CJ; Hommes, FA	1

Reviews

1 review(s) available for aspartic acid and Symptom Cluster

Article	Year
Abnormal metabolism of neuroexcitatory amino acids in olivopontocerebellar atrophy. Advances in neurology, 1984, Volume: 41 Topics: Amino Acids; Animals; Aspartic Acid; Cells, Cultured; Cerebellar Ataxia; Fibroblasts; Glutamate Dehydrogenase; Glutamates; Glutamic Acid; Humans; Malates; Olivary Nucleus; Phenotype; Pons; Rats; Skin; Syndrome	1984

Trials

2 trial(s) available for aspartic acid and Symptom Cluster

Article	Year
Evidence for axonal pathology and adaptive cortical reorganization in patients at presentation with clinically isolated syndromes suggestive of multiple sclerosis. NeuroImage, 2003, Volume: 18, Issue:4 Topics: Adaptation, Physiological; Adult; Aspartic Acid; Axons; Brain; Brain Mapping; Cerebral Cortex; Female; Fingers; Frontal Lobe; Humans; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Middle Aged; Multiple Sclerosis; Nerve Net; Nervous System Diseases; Psychomotor Performance; Reference Values; Somatosensory Cortex; Syndrome	2003
A new syndrome: ascites, hyperbilirubinemia, and hypoalbuminemia after biochemical modulation of fluorouracil with N-phosphonacetyl-L-aspartate (PALA) Annals of internal medicine, 1991, Dec-15, Volume: 115, Issue:12 Topics: Aged; Antineoplastic Combined Chemotherapy Protocols; Ascites; Aspartic Acid; Colorectal Neoplasms; Drug Evaluation; Fluorouracil; Humans; Hyperbilirubinemia; Liver Neoplasms; Male; Phosphonoacetic Acid; Prothrombin Time; Retrospective Studies; Serum Albumin; Syndrome; Transaminases	1991

Article

Year

Evidence for axonal pathology and adaptive cortical reorganization in patients at presentation with clinically isolated syndromes suggestive of multiple sclerosis.

NeuroImage, 2003, Volume: 18, Issue:4

Topics: Adaptation, Physiological; Adult; Aspartic Acid; Axons; Brain; Brain Mapping; Cerebral Cortex; Female; Fingers; Frontal Lobe; Humans; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Middle Aged; Multiple Sclerosis; Nerve Net; Nervous System Diseases; Psychomotor Performance; Reference Values; Somatosensory Cortex; Syndrome

2003

A new syndrome: ascites, hyperbilirubinemia, and hypoalbuminemia after biochemical modulation of fluorouracil with N-phosphonacetyl-L-aspartate (PALA)

Annals of internal medicine, 1991, Dec-15, Volume: 115, Issue:12

Topics: Aged; Antineoplastic Combined Chemotherapy Protocols; Ascites; Aspartic Acid; Colorectal Neoplasms; Drug Evaluation; Fluorouracil; Humans; Hyperbilirubinemia; Liver Neoplasms; Male; Phosphonoacetic Acid; Prothrombin Time; Retrospective Studies; Serum Albumin; Syndrome; Transaminases

1991

Other Studies

46 other study(ies) available for aspartic acid and Symptom Cluster

Article	Year
A Case of Autoimmune Hepatitis/Primary Biliary Cholangitis Overlap Syndrome during Treatment with Brodalumab for Generalized Pustular Psoriasis. Journal of Nippon Medical School = Nippon Ika Daigaku zasshi, 2021, Volume: 88, Issue:6 Topics: Acute Disease; Aged; Alanine Transaminase; Antibodies, Monoclonal, Humanized; Aspartic Acid; Autoantibodies; Dermatologic Agents; Hepatitis, Autoimmune; Humans; Interleukin-17; Liver Cirrhosis, Biliary; Male; Neutropenia; Psoriasis; Receptors, Interleukin-17; Syndrome; Treatment Outcome	2021
A budding yeast model for human disease mutations in the RNA (New York, N.Y.), 2021, Volume: 27, Issue:9 Topics: Amino Acid Sequence; Amino Acid Substitution; Aspartic Acid; Dwarfism; Exoribonucleases; Exosome Multienzyme Ribonuclease Complex; Facies; Gene Expression; Glycine; Hearing Loss; Humans; Models, Biological; Models, Molecular; Mutation, Missense; Protein Conformation; Retinitis Pigmentosa; RNA-Binding Proteins; RNA, Fungal; Saccharomyces cerevisiae; Saccharomyces cerevisiae Proteins; Sequence Homology, Amino Acid; Syndrome	2021
Brain metabolic changes suggestive of axonal damage in radiologically isolated syndrome. Neurology, 2013, Jun-04, Volume: 80, Issue:23 Topics: Adult; Aspartic Acid; Axons; Brain; Choline; Creatine; Disease Progression; Female; Humans; Magnetic Resonance Spectroscopy; Male; Middle Aged; Multiple Sclerosis; Prodromal Symptoms; Protons; Risk; Syndrome; Young Adult	2013
Diabetic striatal disease: clinical presentation, neuroimaging, and pathology. Internal medicine (Tokyo, Japan), 2009, Volume: 48, Issue:13 Topics: Adolescent; Aged; Aged, 80 and over; Aspartic Acid; Choline; Chorea; Corpus Striatum; Creatine; Diabetic Neuropathies; Female; Fluorodeoxyglucose F18; Humans; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Middle Aged; Positron-Emission Tomography; Radiopharmaceuticals; Syndrome	2009
AGC1 deficiency associated with global cerebral hypomyelination. The New England journal of medicine, 2009, Jul-30, Volume: 361, Issue:5 Topics: Amino Acid Transport Systems, Acidic; Antiporters; Aspartic Acid; Cerebrum; Child, Preschool; Epilepsy; Female; Hereditary Central Nervous System Demyelinating Diseases; Homozygote; Humans; Magnetic Resonance Imaging; Mitochondria; Mitochondrial Membrane Transport Proteins; Muscle Hypotonia; Mutation, Missense; Protein Isoforms; Psychomotor Disorders; Sequence Analysis, DNA; Syndrome	2009
Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes. Experimental dermatology, 2011, Volume: 20, Issue:5 Topics: Adult; Asparagine; Aspartic Acid; Cell Membrane; Child; Connexin 26; Connexins; Cytoplasm; Endoplasmic Reticulum; Female; Fluoresceins; Gap Junctions; Hearing Loss; HeLa Cells; Humans; Hypertrichosis; Keratoderma, Palmoplantar; Keratosis; Lysine; Male; Mutation, Missense; Nails, Malformed; Protein Transport; Skin; Skin Diseases; Syndrome; Transfection; Tyrosine	2011
Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome. The British journal of dermatology, 2012, Volume: 167, Issue:1 Topics: Adolescent; Aspartic Acid; Autoimmune Diseases of the Nervous System; Chilblains; Exodeoxyribonucleases; Heterozygote; Humans; Lupus Erythematosus, Cutaneous; Male; Mutation; Nervous System Malformations; Phosphoproteins; Syndrome	2012
Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome. Human genetics, 2013, Volume: 132, Issue:3 Topics: Adolescent; Adult; Asparagine; Aspartic Acid; Cerebral Cortex; Chromosomes, Human, Pair 21; Collagen Type VI; Consanguinity; Electroencephalography; Female; Homozygote; Humans; Iran; Male; Middle Aged; Mutation; Myoclonic Epilepsies, Progressive; Pedigree; Syndrome	2013
New insights into the molecular basis of the triple A syndrome. Endocrine research, 2002, Volume: 28, Issue:4 Topics: Addison Disease; Aspartic Acid; DNA Mutational Analysis; Esophageal Achalasia; Genotype; Heterozygote; Homozygote; Humans; Lacrimal Apparatus Diseases; Mutation; Nerve Tissue Proteins; Nuclear Pore Complex Proteins; Phenotype; Proteins; Repetitive Sequences, Amino Acid; Syndrome; Tryptophan	2002
The housewife syndrome. Treatment with the potassium and magnesium salts of aspartic acid. Current therapeutic research, clinical and experimental, 1962, Volume: 4 Topics: Aspartic Acid; Fatigue; Magnesium; Potassium; Salts; Syndrome	1962
[MEMORY-STIMULATING EFFECT OF A RIBONUCLEOTIDE COMPLEX IN SENILE SYNDROMES AND CONFUSIONAL STATES INDUCED BY ELCTROSHOCK]. Rivista sperimentale di freniatria e medicina legale delle alienazioni mentali, 1964, Jun-30, Volume: 88 Topics: Arginine; Aspartic Acid; Biomedical Research; Confusion; Drug Therapy; Electroconvulsive Therapy; Flavin Mononucleotide; Geriatrics; Intracranial Arteriosclerosis; Memory; Mental Disorders; Nucleotides; RNA; Syndrome	1964
Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome family. European journal of biochemistry, 2003, Volume: 270, Issue:22 Topics: Amino Acid Sequence; Anemia, Megaloblastic; Animals; Aspartic Acid; Biological Transport; Cell Line; Cell Membrane; Conserved Sequence; Diabetes Complications; Diabetes Mellitus; Glycosylation; Hearing Loss, Sensorineural; Humans; Membrane Transport Proteins; Mice; Mutation; Protein Transport; Syndrome; Thiamine; Transfection	2003
Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene. Movement disorders : official journal of the Movement Disorder Society, 2003, Volume: 18, Issue:12 Topics: Adolescent; Adult; Aspartic Acid; Brain Diseases; Brain Stem; Cerebral Cortex; Female; Frontal Lobe; Gene Expression; Humans; Magnetic Resonance Spectroscopy; Male; Middle Aged; Point Mutation; Pons; Receptors, Glycine; Reflex, Startle; Syndrome	2003
Brain lactic alkalosis in Aicardi-Goutières syndrome. Neuropediatrics, 2004, Volume: 35, Issue:1 Topics: Alkalosis; Aspartic Acid; Basal Ganglia; Brain; Brain Diseases, Metabolic; Calcinosis; Creatinine; Echoencephalography; Humans; Infant, Newborn; Lactic Acid; Magnetic Resonance Spectroscopy; Male; Syndrome; Tomography, X-Ray Computed	2004
MR imaging and spectroscopic study of epileptogenic hypothalamic hamartomas: analysis of 72 cases. AJNR. American journal of neuroradiology, 2004, Volume: 25, Issue:3 Topics: Adolescent; Adult; Aspartic Acid; Cell Count; Cerebral Cortex; Child; Child, Preschool; Dominance, Cerebral; Energy Metabolism; Epilepsy; Female; Gliosis; Hamartoma; Humans; Hypothalamic Diseases; Hypothalamus; Image Enhancement; Image Processing, Computer-Assisted; Inositol; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Mammillary Bodies; Nerve Fibers, Myelinated; Neural Pathways; Neurons; Prognosis; Syndrome; Thalamus	2004
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
Leukoencephalopathy, cerebral calcifications, and cysts: new observations. Neurology, 2004, Apr-13, Volume: 62, Issue:7 Topics: Adolescent; Aspartic Acid; Brain; Brain Diseases; Calcinosis; Central Nervous System Cysts; Child; Choline; Creatine; Diffusion Magnetic Resonance Imaging; Disease Progression; Female; Humans; Lactic Acid; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Rare Diseases; Retinal Diseases; Syndrome; Tomography, X-Ray Computed	2004
Elevated white matter myo-inositol in clinically isolated syndromes suggestive of multiple sclerosis. Brain : a journal of neurology, 2004, Volume: 127, Issue:Pt 6 Topics: Adolescent; Adult; Aspartic Acid; Biomarkers; Brain; Creatine; Female; Humans; Inositol; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Middle Aged; Multiple Sclerosis; Phosphocreatine; Prospective Studies; Syndrome	2004
1H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter. European radiology, 2005, Volume: 15, Issue:9 Topics: Aspartic Acid; Brain Chemistry; Child, Preschool; Choline; Creatine; Glutamic Acid; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Hydrogen; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Syndrome	2005
Endothelial NO synthase polymorphisms and postural tachycardia syndrome. Hypertension (Dallas, Tex. : 1979), 2005, Volume: 46, Issue:5 Topics: Adolescent; Adult; Alleles; Aspartic Acid; Case-Control Studies; Cysteine; Female; Genotype; Glutamic Acid; Heart Rate; Homozygote; Humans; Male; Middle Aged; Nitric Oxide Synthase Type III; Norepinephrine; Polymorphism, Genetic; Posture; Severity of Illness Index; Syndrome; Tachycardia; Threonine	2005
Serial MR imaging, diffusion tensor imaging, and MR spectroscopic findings in a child with progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome. AJNR. American journal of neuroradiology, 2006, Volume: 27, Issue:7 Topics: Aspartic Acid; Atrophy; Brain Diseases; Brain Edema; Cerebellum; Child; Choline; Creatine; Diffusion Magnetic Resonance Imaging; Edema; Female; Follow-Up Studies; Humans; Infant; Lactic Acid; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Neurodegenerative Diseases; Optic Atrophy; Spasms, Infantile; Syndrome	2006
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
Determinants of disability in multiple sclerosis at various disease stages: a multiparametric magnetic resonance study. Archives of neurology, 2007, Volume: 64, Issue:8 Topics: Adult; Aged; Anisotropy; Aspartic Acid; Brain; Cohort Studies; Cross-Sectional Studies; Diffusion Magnetic Resonance Imaging; Disability Evaluation; Female; Humans; Magnetic Resonance Spectroscopy; Male; Middle Aged; Multiple Sclerosis, Chronic Progressive; Multiple Sclerosis, Relapsing-Remitting; Nervous System Diseases; Periaqueductal Gray; Syndrome; Time Factors	2007
Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. American journal of human genetics, 2007, Volume: 81, Issue:3 Topics: Alleles; Amino Acid Sequence; Amino Acid Substitution; Arthrogryposis; Asparagine; Aspartic Acid; Chromosomes, Human, Pair 19; Female; Homozygote; Humans; Male; Molecular Sequence Data; Mutation; Pedigree; Phosphatidylinositol 4,5-Diphosphate; Phosphotransferases (Alcohol Group Acceptor); Syndrome	2007
The high pressure neurological syndrome and 2-amino-7-phosphonoheptanoic acid: differences between fed and fasted rats. Neuroscience letters, 1984, Jul-27, Volume: 48, Issue:2 Topics: 2-Amino-5-phosphonovalerate; Amino Acids; Animals; Aspartic Acid; Atmospheric Pressure; Brain; Fasting; Glutamates; Glutamic Acid; Male; Myoclonus; Rats; Rats, Inbred Strains; Seizures; Synaptic Transmission; Syndrome; Tremor	1984
Four biochemically different types of dominantly inherited olivopontocerebellar atrophy. Advances in neurology, 1984, Volume: 41 Topics: Adult; Aged; Amino Acids; Aspartic Acid; Brain Chemistry; Cerebellar Ataxia; gamma-Aminobutyric Acid; Genes, Dominant; Glutamates; Glutamic Acid; Humans; Middle Aged; Neurotransmitter Agents; Olivary Nucleus; Pons; Syndrome; Taurine	1984
Imaging of axonal damage in vivo in Rasmussen's syndrome. Brain : a journal of neurology, 1995, Volume: 118 ( Pt 3) Topics: Adolescent; Aspartic Acid; Brain Chemistry; Child; Chronic Disease; Creatine; Disease Progression; Encephalitis; Epilepsies, Partial; Female; Hemiplegia; Humans; Magnetic Resonance Imaging; Male; Status Epilepticus; Syndrome	1995
Three new mutations of thyroid hormone receptor-beta associated with resistance to thyroid hormone. The Journal of clinical endocrinology and metabolism, 1994, Volume: 79, Issue:1 Topics: Adolescent; Adult; Amino Acid Sequence; Asparagine; Aspartic Acid; Base Sequence; Drug Resistance; Female; Glutamates; Glutamic Acid; Glutamine; Humans; Lysine; Male; Molecular Sequence Data; Point Mutation; Receptors, Thyroid Hormone; Sicily; Syndrome; Thyroid Hormones	1994
Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy) American journal of human genetics, 1993, Volume: 53, Issue:1 Topics: Adolescent; Adult; Amino Acid Sequence; Aspartic Acid; Base Sequence; Cataract; Child; Child, Preschool; DNA; DNA Mutational Analysis; Female; Glycine; Humans; Joint Diseases; Male; Molecular Sequence Data; Mutation; Polymerase Chain Reaction; Procollagen; Retinal Detachment; Syndrome	1993
Protracted clinical course for patients with Canavan disease. Developmental medicine and child neurology, 1993, Volume: 35, Issue:4 Topics: Adolescent; Amidohydrolases; Aspartic Acid; Brain Diseases; Child; Child, Preschool; Female; Fibroblasts; Humans; Infant; Jews; Male; Movement Disorders; Phenotype; Syndrome	1993
Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency. The Journal of clinical endocrinology and metabolism, 1996, Volume: 81, Issue:4 Topics: Adrenocorticotropic Hormone; Amino Acid Sequence; Animals; Aspartic Acid; Base Sequence; Cell Line; Child, Preschool; CHO Cells; Cricetinae; DNA; DNA Primers; Female; Genes, Recessive; Glucocorticoids; Homozygote; Humans; Hydrocortisone; Lymphocytes; Male; Melanoma, Experimental; Mice; Molecular Sequence Data; Pedigree; Point Mutation; Polymerase Chain Reaction; Protein Structure, Secondary; Receptors, Corticotropin; Recombinant Proteins; Syndrome; Transfection	1996
Proton magnetic resonance spectroscopy of linear nevus sebaceus syndrome. Pediatric neurology, 1998, Volume: 18, Issue:2 Topics: Aspartic Acid; Brain Chemistry; Cerebral Cortex; Child, Preschool; Choline; Creatine; Disease Progression; Hamartoma; Humans; Infant; Inositol; Magnetic Resonance Spectroscopy; Male; Skin Neoplasms; Syndrome	1998
Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome. Human mutation, 2000, Volume: 15, Issue:4 Topics: Amino Acid Substitution; Aspartic Acid; Child, Preschool; DNA-Binding Proteins; Exons; Fatal Outcome; Genes, Wilms Tumor; Humans; Infant, Newborn; Male; Mutation, Missense; Syndrome; Transcription Factors; Tyrosine; Urogenital Abnormalities; WT1 Proteins	2000
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
Diffuse metabolic abnormalities in reversible posterior leukoencephalopathy syndrome. AJNR. American journal of neuroradiology, 2002, Volume: 23, Issue:5 Topics: Adult; Aspartic Acid; Brain Diseases; Choline; Confusion; Creatine; Female; Headache; Humans; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Pregnancy; Pregnancy Complications; Seizures; Syndrome; Tissue Distribution; Vision Disorders	2002
Abnormalities in neurotransmitter amino acids in dominantly inherited cerebellar disorders. Advances in neurology, 1978, Volume: 21 Topics: Amino Acids; Aspartic Acid; Atrophy; Brain Chemistry; Cerebellar Cortex; Cerebellar Diseases; Cerebellar Nuclei; Chromosome Aberrations; Chromosome Disorders; gamma-Aminobutyric Acid; Genes, Dominant; Humans; Neurotransmitter Agents; Olivary Nucleus; Syndrome; Taurine	1978
Hypokalemic myopathy due to chronic alcoholism. Folia psychiatrica et neurologica japonica, 1976, Volume: 30, Issue:4 Topics: Adult; Alcoholism; Aspartic Acid; Creatine Kinase; Electromyography; Humans; Hypokalemia; Male; Middle Aged; Muscles; Muscular Diseases; Potassium; Potassium Chloride; Syndrome	1976
Comparison of treatments for congenital nonobstructive nonhaemolytic hyperbilirubinaemia. Archives of disease in childhood, 1975, Volume: 50, Issue:3 Topics: Agar; Aspartic Acid; Bilirubin; Brain Damage, Chronic; Child, Preschool; Cholestyramine Resin; Dietary Fats; Exchange Transfusion, Whole Blood; Feces; Female; Humans; Hyperbilirubinemia, Hereditary; Infant; Infant, Newborn; Phenobarbital; Phototherapy; Syndrome; Uridine Diphosphate Sugars	1975
Quantification of N-acetyl-L-aspartic acid in urine by isotope dilution gas chromatography-mass spectrometry. Journal of inherited metabolic disease, 1992, Volume: 15, Issue:1 Topics: Aspartic Acid; Central Nervous System Diseases; Child; Child, Preschool; Gas Chromatography-Mass Spectrometry; Humans; Infant; Nerve Degeneration; Syndrome	1992
Studies on the role of the NMDA receptor in the substantia nigra pars reticulata and entopeduncular nucleus in the development of the high pressure neurological syndrome in rats. Experimental brain research, 1989, Volume: 78, Issue:1 Topics: 2-Amino-5-phosphonovalerate; Amino Acids; Animals; Aspartic Acid; Atmospheric Pressure; Catalepsy; Globus Pallidus; Male; N-Methylaspartate; Nervous System Diseases; Rats; Rats, Inbred Strains; Receptors, N-Methyl-D-Aspartate; Receptors, Neurotransmitter; Seizures; Substantia Nigra; Syndrome	1989
[Characteristics of the amino acid spectrum of the blood of children with intellectual deficiency]. Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952), 1986, Volume: 86, Issue:3 Topics: Amino Acids; Ammonia; Arginine; Aspartic Acid; Child; Female; Glutamates; Glutamic Acid; Humans; Intellectual Disability; Male; Movement Disorders; Polyamines; Syndrome; Urea	1986
N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy. Journal of inherited metabolic disease, 1988, Volume: 11, Issue:3 Topics: Aspartic Acid; Brain; Child; Female; Humans; Infant; Male; Syndrome; Tomography, Emission-Computed	1988
Aspartylglycosaminuria: a gargoyle-like syndrome with autosomal recessive inheritance. Birth defects original article series, 1974, Volume: 10, Issue:4 Topics: Adolescent; Adult; Aminoglycosides; Aspartic Acid; Child; Finland; Humans; Mucopolysaccharidoses; Pedigree; Syndrome	1974
Aspartylglycosaminuria (AGU). Further aspects on its clinical picture, mode of inheritance and epidemiology based on a series of 57 patients. Annals of clinical research, 1973, Volume: 5, Issue:3 Topics: Adolescent; Adult; Amidohydrolases; Aspartic Acid; Bone Marrow; Child; Child, Preschool; Consanguinity; Face; Female; Finland; Genes, Recessive; Glucosamine; Homozygote; Humans; Inclusion Bodies; Infant; Infant, Newborn; Intellectual Disability; Lymphocytes; Male; Metabolism, Inborn Errors; Osteochondritis; Radiography; Syndrome	1973
Narcolepsy and cataplexy. Clinical features, treatment and cerebrospinal fluid findings. The Quarterly journal of medicine, 1974, Volume: 43, Issue:172 Topics: Adult; Amphetamine; Aspartic Acid; Body Weight; Cataplexy; Cerebrospinal Fluid Proteins; Dextroamphetamine; Electroencephalography; Feeding and Eating Disorders; Female; Homovanillic Acid; Humans; Libido; Male; Mental Disorders; Methionine; Middle Aged; Narcolepsy; Phenylalanine; Syndrome; Tyrosine	1974
Further speculation on the pathogenesis of Leigh's encephalomyelopathy. The Journal of pediatrics, 1973, Volume: 82, Issue:3 Topics: Aspartic Acid; Brain Stem; Citric Acid Cycle; Encephalomalacia; Humans; Intellectual Disability; Ligases; Metabolism, Inborn Errors; Psychomotor Disorders; Syndrome; Thiamine	1973