aspartic acid has been researched along with Syndrome in 49 studies
Aspartic Acid: One of the non-essential amino acids commonly occurring in the L-form. It is found in animals and plants, especially in sugar cane and sugar beets. It may be a neurotransmitter.
aspartic acid : An alpha-amino acid that consists of succinic acid bearing a single alpha-amino substituent
L-aspartic acid : The L-enantiomer of aspartic acid.
Syndrome: A characteristic symptom complex.
| Excerpt | Relevance | Reference |
|---|---|---|
| "To report a new syndrome of ascites, hyperbilirubinemia, and hypoalbuminemia after treatment with N-phosphonacetyl-L-aspartate (PALA) and fluorouracil for metastatic colorectal cancer." | 9.07 | A new syndrome: ascites, hyperbilirubinemia, and hypoalbuminemia after biochemical modulation of fluorouracil with N-phosphonacetyl-L-aspartate (PALA) ( Costa, P; Kemeny, N; Kurtz, RC; Martin, D; Murray, M; Niedzwiecki, D; Seiter, K; Urmacher, C, 1991) |
| " tremor, myoclonus and convulsions, successively appear, have been studied in fed and fasted rats with and without pretreatment with 2-amino-7-phosphonoheptanoic acid (180 mg/kg)." | 7.67 | The high pressure neurological syndrome and 2-amino-7-phosphonoheptanoic acid: differences between fed and fasted rats. ( Halsey, MJ; Meldrum, BS; Wardley-Smith, B, 1984) |
| "Rogers syndrome is an autosomal recessive disorder resulting in megaloblastic anemia, diabetes mellitus, and sensorineural deafness." | 5.32 | Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome family. ( Aronheim, A; Assaraf, YG; Baron, D; Drori, S, 2003) |
| "To report a new syndrome of ascites, hyperbilirubinemia, and hypoalbuminemia after treatment with N-phosphonacetyl-L-aspartate (PALA) and fluorouracil for metastatic colorectal cancer." | 5.07 | A new syndrome: ascites, hyperbilirubinemia, and hypoalbuminemia after biochemical modulation of fluorouracil with N-phosphonacetyl-L-aspartate (PALA) ( Costa, P; Kemeny, N; Kurtz, RC; Martin, D; Murray, M; Niedzwiecki, D; Seiter, K; Urmacher, C, 1991) |
| "Compared with normal gray matter, hypothalamic hamartomas were hyperintense on T2-weighted images (93%), hypointense on T1-weighted images (74%), and had reduced N-acetylaspartate and increased myoinositol content shown by MR spectroscopy." | 3.72 | MR imaging and spectroscopic study of epileptogenic hypothalamic hamartomas: analysis of 72 cases. ( Berkovic, SF; Coleman, LT; Freeman, JL; Harvey, AS; Jackson, GD; Kean, MJ; Rosenfeld, JV; Wellard, RM, 2004) |
| " tremor, myoclonus and convulsions, successively appear, have been studied in fed and fasted rats with and without pretreatment with 2-amino-7-phosphonoheptanoic acid (180 mg/kg)." | 3.67 | The high pressure neurological syndrome and 2-amino-7-phosphonoheptanoic acid: differences between fed and fasted rats. ( Halsey, MJ; Meldrum, BS; Wardley-Smith, B, 1984) |
| "Psoriasis is a chronic inflammatory skin disease characterized by accelerated tumor necrosis factor-α (TNF-α) /interleukin (IL) -23/IL-17 axis, epidermal hyperproliferation, and dysregulated differentiation." | 1.62 | A Case of Autoimmune Hepatitis/Primary Biliary Cholangitis Overlap Syndrome during Treatment with Brodalumab for Generalized Pustular Psoriasis. ( Hoashi, T; Kanda, N; Okazaki, S; Saeki, H, 2021) |
| " Dosage analysis of PTEN was carried out using multiplex ligation-dependent probe amplification (MLPA)." | 1.34 | Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. ( 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, 2007) |
| "PEHO syndrome is a rare symptom complex of severe progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy." | 1.33 | Serial MR imaging, diffusion tensor imaging, and MR spectroscopic findings in a child with progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome. ( Boltshauser, E; Huisman, TA; Klein, A; Straube, T; Werner, B, 2006) |
| "Rogers syndrome is an autosomal recessive disorder resulting in megaloblastic anemia, diabetes mellitus, and sensorineural deafness." | 1.32 | Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome family. ( Aronheim, A; Assaraf, YG; Baron, D; Drori, S, 2003) |
| "Aicardi-Goutières syndrome is a rare progressive encephalopathy characterized by acquired microcephaly, basal ganglia calcification, and chronic CSF lymphocytosis, raised levels of interferon alpha in CSF and plasma and chill-blain type lesions." | 1.32 | Brain lactic alkalosis in Aicardi-Goutières syndrome. ( Battini, R; Bianchi, MC; Cheong, J; Cioni, G; Cowan, FM; Cox, IJ; Robertson, NJ; Stafler, P; Tosetti, M, 2004) |
| "Char syndrome is an autosomal dominant trait characterized by patent ductus arteriosus, facial dysmorphism and hand anomalies." | 1.31 | Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. ( Burn, J; Davidson, HR; Diaz, GA; Gelb, BD; Goodship, J; Pierpont, ME; Satoda, M; Zhao, F, 2000) |
| "Two cases of reversible posterior leukoencephalopathy syndrome were examined with proton MR spectroscopic imaging." | 1.31 | Diffuse metabolic abnormalities in reversible posterior leukoencephalopathy syndrome. ( Barker, PB; Beauchamp, NJ; Eichler, FS; Wang, P; Wityk, RJ, 2002) |
| "The metabolic disturbances indicate disease progression but are less pronounced than in older patients with hemimegalencephaly." | 1.30 | Proton magnetic resonance spectroscopy of linear nevus sebaceus syndrome. ( Christen, HJ; Frahm, J; Hanefeld, FA; Kruse, B; Pouwels, PJ, 1998) |
| 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 | Studies |
|---|---|
| Okazaki, S | 1 |
| Hoashi, T | 1 |
| Saeki, H | 1 |
| Kanda, N | 1 |
| Sterrett, MC | 1 |
| Enyenihi, L | 1 |
| Leung, SW | 1 |
| Hess, L | 1 |
| Strassler, SE | 1 |
| Farchi, D | 1 |
| Lee, RS | 1 |
| Withers, ES | 1 |
| Kremsky, I | 1 |
| Baker, RE | 1 |
| Basrai, MA | 1 |
| van Hoof, A | 1 |
| Fasken, MB | 1 |
| Corbett, AH | 1 |
| Stromillo, ML | 1 |
| Giorgio, A | 1 |
| Rossi, F | 1 |
| Battaglini, M | 1 |
| Hakiki, B | 1 |
| Malentacchi, G | 1 |
| Santangelo, M | 1 |
| Gasperini, C | 1 |
| Bartolozzi, ML | 1 |
| Portaccio, E | 1 |
| Amato, MP | 1 |
| De Stefano, N | 1 |
| Abe, Y | 1 |
| Yamamoto, T | 1 |
| Soeda, T | 1 |
| Kumagai, T | 1 |
| Tanno, Y | 1 |
| Kubo, J | 1 |
| Ishihara, T | 1 |
| Katayama, S | 1 |
| Wibom, R | 1 |
| Lasorsa, FM | 1 |
| Töhönen, V | 1 |
| Barbaro, M | 1 |
| Sterky, FH | 1 |
| Kucinski, T | 1 |
| Naess, K | 1 |
| Jonsson, M | 1 |
| Pierri, CL | 1 |
| Palmieri, F | 1 |
| Wedell, A | 1 |
| de Zwart-Storm, EA | 1 |
| Rosa, RF | 1 |
| Martin, PE | 1 |
| Foelster-Holst, R | 1 |
| Frank, J | 1 |
| Bau, AE | 1 |
| Zen, PR | 1 |
| Graziadio, C | 1 |
| Paskulin, GA | 1 |
| Kamps, MA | 1 |
| van Geel, M | 1 |
| van Steensel, MA | 1 |
| Tüngler, V | 1 |
| Silver, RM | 1 |
| Walkenhorst, H | 1 |
| Günther, C | 1 |
| Lee-Kirsch, MA | 1 |
| Karkheiran, S | 1 |
| Krebs, CE | 1 |
| Makarov, V | 1 |
| Nilipour, Y | 1 |
| Hubert, B | 1 |
| Darvish, H | 1 |
| Frucht, S | 1 |
| Shahidi, GA | 1 |
| Buxbaum, JD | 2 |
| Paisán-Ruiz, C | 1 |
| Huebner, A | 1 |
| Kaindl, AM | 1 |
| Braun, R | 1 |
| Handschug, K | 1 |
| Rocca, MA | 1 |
| Mezzapesa, DM | 1 |
| Falini, A | 1 |
| Ghezzi, A | 1 |
| Martinelli, V | 2 |
| Scotti, G | 1 |
| Comi, G | 2 |
| Filippi, M | 2 |
| FORMICA, PE | 1 |
| RABASSINI, A | 1 |
| Baron, D | 1 |
| Assaraf, YG | 1 |
| Drori, S | 1 |
| Aronheim, A | 1 |
| Tijssen, MA | 1 |
| Brown, P | 1 |
| MacManus, D | 1 |
| McLean, MA | 2 |
| Davie, C | 1 |
| Robertson, NJ | 1 |
| Stafler, P | 1 |
| Battini, R | 1 |
| Cheong, J | 1 |
| Tosetti, M | 1 |
| Bianchi, MC | 1 |
| Cox, IJ | 1 |
| Cowan, FM | 1 |
| Cioni, G | 1 |
| Freeman, JL | 1 |
| Coleman, LT | 1 |
| Wellard, RM | 1 |
| Kean, MJ | 1 |
| Rosenfeld, JV | 1 |
| Jackson, GD | 1 |
| Berkovic, SF | 1 |
| Harvey, AS | 1 |
| Marszał, E | 1 |
| Jamroz, E | 1 |
| Paprocka, J | 1 |
| Kluczewska, E | 1 |
| Sokół, M | 1 |
| Nagae-Poetscher, LM | 1 |
| Bibat, G | 1 |
| Philippart, M | 1 |
| Rosemberg, S | 1 |
| Fatemi, A | 1 |
| Lacerda, MT | 1 |
| Costa, MO | 1 |
| Kok, F | 1 |
| Costa Leite, C | 1 |
| Horská, A | 1 |
| Barker, PB | 2 |
| Naidu, S | 1 |
| Fernando, KT | 1 |
| Chard, DT | 1 |
| MacManus, DG | 1 |
| Dalton, CM | 1 |
| Miszkiel, KA | 1 |
| Gordon, RM | 1 |
| Plant, GT | 1 |
| Thompson, AJ | 1 |
| Miller, DH | 1 |
| Sijens, PE | 1 |
| Verbruggen, KT | 1 |
| Meiners, LC | 1 |
| Soorani-Lunsing, RJ | 1 |
| Rake, JP | 1 |
| Oudkerk, M | 1 |
| Garland, EM | 1 |
| Winker, R | 1 |
| Williams, SM | 1 |
| Jiang, L | 1 |
| Stanton, K | 1 |
| Byrne, DW | 1 |
| Biaggioni, I | 1 |
| Cascorbi, I | 1 |
| Phillips, JA | 1 |
| Harris, PA | 1 |
| Rüdiger, H | 1 |
| Robertson, D | 1 |
| Huisman, TA | 1 |
| Klein, A | 1 |
| Werner, B | 1 |
| Straube, T | 1 |
| Boltshauser, E | 1 |
| Cai, G | 1 |
| Chaste, P | 1 |
| Nygren, G | 1 |
| Goldsmith, J | 1 |
| Reichert, J | 1 |
| Anckarsäter, H | 1 |
| Rastam, M | 1 |
| Smith, CJ | 1 |
| Silverman, JM | 1 |
| Hollander, E | 1 |
| Leboyer, M | 1 |
| Gillberg, C | 1 |
| Verloes, A | 1 |
| Betancur, C | 1 |
| Pulizzi, A | 1 |
| Rovaris, M | 1 |
| Judica, E | 1 |
| Sormani, MP | 1 |
| Narkis, G | 1 |
| Ofir, R | 1 |
| Landau, D | 1 |
| Manor, E | 1 |
| Volokita, M | 1 |
| Hershkowitz, R | 1 |
| Elbedour, K | 1 |
| Birk, OS | 1 |
| Wardley-Smith, B | 2 |
| Meldrum, BS | 2 |
| Halsey, MJ | 2 |
| Perry, TL | 2 |
| Plaitakis, A | 1 |
| Cendes, F | 1 |
| Andermann, F | 1 |
| Silver, K | 1 |
| Arnold, DL | 1 |
| Bartolone, L | 1 |
| Regalbuto, C | 1 |
| Benvenga, S | 1 |
| Filetti, S | 1 |
| Trimarchi, F | 1 |
| Pontecorvi, A | 1 |
| Körkkö, J | 1 |
| Ritvaniemi, P | 1 |
| Haataja, L | 1 |
| Kääriäinen, H | 1 |
| Kivirikko, KI | 1 |
| Prockop, DJ | 1 |
| Ala-Kokko, L | 1 |
| Zelnik, N | 1 |
| Luder, AS | 1 |
| Elpeleg, ON | 1 |
| Gross-Tsur, V | 1 |
| Amir, N | 1 |
| Hemli, JA | 1 |
| Fattal, A | 1 |
| Harel, S | 1 |
| Naville, D | 1 |
| Barjhoux, L | 1 |
| Jaillard, C | 1 |
| Faury, D | 1 |
| Despert, F | 1 |
| Esteva, B | 1 |
| Durand, P | 1 |
| Saez, JM | 1 |
| Begeot, M | 1 |
| Kruse, B | 1 |
| Pouwels, PJ | 1 |
| Christen, HJ | 1 |
| Frahm, J | 1 |
| Hanefeld, FA | 1 |
| Little, M | 1 |
| Carman, G | 1 |
| Donaldson, E | 1 |
| Satoda, M | 1 |
| Zhao, F | 1 |
| Diaz, GA | 1 |
| Burn, J | 1 |
| Goodship, J | 1 |
| Davidson, HR | 1 |
| Pierpont, ME | 1 |
| Gelb, BD | 1 |
| Eichler, FS | 1 |
| Wang, P | 1 |
| Wityk, RJ | 1 |
| Beauchamp, NJ | 1 |
| Hansen, S | 1 |
| Currier, RD | 1 |
| Berry, K | 1 |
| Rassouli, ME | 1 |
| Ikeda, H | 1 |
| Otsuki, S | 1 |
| Arrowsmith, WA | 1 |
| Payne, RB | 1 |
| Littlewood, JM | 1 |
| Kelley, RI | 1 |
| Stamas, JN | 1 |
| Kemeny, N | 1 |
| Seiter, K | 1 |
| Martin, D | 1 |
| Urmacher, C | 1 |
| Niedzwiecki, D | 1 |
| Kurtz, RC | 1 |
| Costa, P | 1 |
| Murray, M | 1 |
| Millan, MH | 1 |
| Turova, NF | 1 |
| Ermolina, LA | 1 |
| Baryshnikov, VA | 1 |
| Divry, P | 1 |
| Vianey-Liaud, C | 1 |
| Gay, C | 1 |
| Macabeo, V | 1 |
| Rapin, F | 1 |
| Echenne, B | 1 |
| Autio, S | 2 |
| Palo, J | 1 |
| Perheentupa, J | 1 |
| Visakorpi, JK | 1 |
| Järvinen, H | 1 |
| Parkes, JD | 1 |
| Fenton, G | 1 |
| Struthers, G | 1 |
| Curzon, G | 1 |
| Kantamaneni, BD | 1 |
| Buxton, BH | 1 |
| Record, C | 1 |
| de Groot, CJ | 1 |
| Hommes, FA | 1 |
1 review available for aspartic acid and Syndrome
| Article | Year |
|---|---|
Abnormal metabolism of neuroexcitatory amino acids in olivopontocerebellar atrophy.
Topics: Amino Acids; Animals; Aspartic Acid; Cells, Cultured; Cerebellar Ataxia; Fibroblasts; Glutamate Dehy | 1984 |
2 trials available for aspartic acid and Syndrome
| Article | Year |
|---|---|
Evidence for axonal pathology and adaptive cortical reorganization in patients at presentation with clinically isolated syndromes suggestive of multiple sclerosis.
Topics: Adaptation, Physiological; Adult; Aspartic Acid; Axons; Brain; Brain Mapping; Cerebral Cortex; Femal | 2003 |
A new syndrome: ascites, hyperbilirubinemia, and hypoalbuminemia after biochemical modulation of fluorouracil with N-phosphonacetyl-L-aspartate (PALA)
Topics: Aged; Antineoplastic Combined Chemotherapy Protocols; Ascites; Aspartic Acid; Colorectal Neoplasms; | 1991 |
46 other studies available for aspartic acid and Syndrome
| Article | Year |
|---|---|
A Case of Autoimmune Hepatitis/Primary Biliary Cholangitis Overlap Syndrome during Treatment with Brodalumab for Generalized Pustular Psoriasis.
Topics: Acute Disease; Aged; Alanine Transaminase; Antibodies, Monoclonal, Humanized; Aspartic Acid; Autoant | 2021 |
A budding yeast model for human disease mutations in the
Topics: Amino Acid Sequence; Amino Acid Substitution; Aspartic Acid; Dwarfism; Exoribonucleases; Exosome Mul | 2021 |
Brain metabolic changes suggestive of axonal damage in radiologically isolated syndrome.
Topics: Adult; Aspartic Acid; Axons; Brain; Choline; Creatine; Disease Progression; Female; Humans; Magnetic | 2013 |
Diabetic striatal disease: clinical presentation, neuroimaging, and pathology.
Topics: Adolescent; Aged; Aged, 80 and over; Aspartic Acid; Choline; Chorea; Corpus Striatum; Creatine; Diab | 2009 |
AGC1 deficiency associated with global cerebral hypomyelination.
Topics: Amino Acid Transport Systems, Acidic; Antiporters; Aspartic Acid; Cerebrum; Child, Preschool; Epilep | 2009 |
Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes.
Topics: Adult; Asparagine; Aspartic Acid; Cell Membrane; Child; Connexin 26; Connexins; Cytoplasm; Endoplasm | 2011 |
Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.
Topics: Adolescent; Aspartic Acid; Autoimmune Diseases of the Nervous System; Chilblains; Exodeoxyribonuclea | 2012 |
Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.
Topics: Adolescent; Adult; Asparagine; Aspartic Acid; Cerebral Cortex; Chromosomes, Human, Pair 21; Collagen | 2013 |
New insights into the molecular basis of the triple A syndrome.
Topics: Addison Disease; Aspartic Acid; DNA Mutational Analysis; Esophageal Achalasia; Genotype; Heterozygot | 2002 |
The housewife syndrome. Treatment with the potassium and magnesium salts of aspartic acid.
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].
Topics: Arginine; Aspartic Acid; Biomedical Research; Confusion; Drug Therapy; Electroconvulsive Therapy; Fl | 1964 |
Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome family.
Topics: Amino Acid Sequence; Anemia, Megaloblastic; Animals; Aspartic Acid; Biological Transport; Cell Line; | 2003 |
Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene.
Topics: Adolescent; Adult; Aspartic Acid; Brain Diseases; Brain Stem; Cerebral Cortex; Female; Frontal Lobe; | 2003 |
Brain lactic alkalosis in Aicardi-Goutières syndrome.
Topics: Alkalosis; Aspartic Acid; Basal Ganglia; Brain; Brain Diseases, Metabolic; Calcinosis; Creatinine; E | 2004 |
MR imaging and spectroscopic study of epileptogenic hypothalamic hamartomas: analysis of 72 cases.
Topics: Adolescent; Adult; Aspartic Acid; Cell Count; Cerebral Cortex; Child; Child, Preschool; Dominance, C | 2004 |
Leukoencephalopathy with macrocephaly and mild clinical course.
Topics: Abnormalities, Multiple; Aspartic Acid; Brain; Child; Child, Preschool; Choline; Creatinine; Dementi | 2004 |
Leukoencephalopathy, cerebral calcifications, and cysts: new observations.
Topics: Adolescent; Aspartic Acid; Brain; Brain Diseases; Calcinosis; Central Nervous System Cysts; Child; C | 2004 |
Elevated white matter myo-inositol in clinically isolated syndromes suggestive of multiple sclerosis.
Topics: Adolescent; Adult; Aspartic Acid; Biomarkers; Brain; Creatine; Female; Humans; Inositol; Magnetic Re | 2004 |
1H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter.
Topics: Aspartic Acid; Brain Chemistry; Child, Preschool; Choline; Creatine; Glutamic Acid; Glycine; Guanidi | 2005 |
Endothelial NO synthase polymorphisms and postural tachycardia syndrome.
Topics: Adolescent; Adult; Alleles; Aspartic Acid; Case-Control Studies; Cysteine; Female; Genotype; Glutami | 2005 |
Serial MR imaging, diffusion tensor imaging, and MR spectroscopic findings in a child with progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome.
Topics: Aspartic Acid; Atrophy; Brain Diseases; Brain Edema; Cerebellum; Child; Choline; Creatine; Diffusion | 2006 |
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
Topics: Abnormalities, Multiple; Adolescent; Adult; Amino Acid Sequence; Asparagine; Aspartic Acid; Autistic | 2007 |
Determinants of disability in multiple sclerosis at various disease stages: a multiparametric magnetic resonance study.
Topics: Adult; Aged; Anisotropy; Aspartic Acid; Brain; Cohort Studies; Cross-Sectional Studies; Diffusion Ma | 2007 |
Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.
Topics: Alleles; Amino Acid Sequence; Amino Acid Substitution; Arthrogryposis; Asparagine; Aspartic Acid; Ch | 2007 |
The high pressure neurological syndrome and 2-amino-7-phosphonoheptanoic acid: differences between fed and fasted rats.
Topics: 2-Amino-5-phosphonovalerate; Amino Acids; Animals; Aspartic Acid; Atmospheric Pressure; Brain; Fasti | 1984 |
Four biochemically different types of dominantly inherited olivopontocerebellar atrophy.
Topics: Adult; Aged; Amino Acids; Aspartic Acid; Brain Chemistry; Cerebellar Ataxia; gamma-Aminobutyric Acid | 1984 |
Imaging of axonal damage in vivo in Rasmussen's syndrome.
Topics: Adolescent; Aspartic Acid; Brain Chemistry; Child; Chronic Disease; Creatine; Disease Progression; E | 1995 |
Three new mutations of thyroid hormone receptor-beta associated with resistance to thyroid hormone.
Topics: Adolescent; Adult; Amino Acid Sequence; Asparagine; Aspartic Acid; Base Sequence; Drug Resistance; F | 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)
Topics: Adolescent; Adult; Amino Acid Sequence; Aspartic Acid; Base Sequence; Cataract; Child; Child, Presch | 1993 |
Protracted clinical course for patients with Canavan disease.
Topics: Adolescent; Amidohydrolases; Aspartic Acid; Brain Diseases; Child; Child, Preschool; Female; Fibrobl | 1993 |
Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency.
Topics: Adrenocorticotropic Hormone; Amino Acid Sequence; Animals; Aspartic Acid; Base Sequence; Cell Line; | 1996 |
Proton magnetic resonance spectroscopy of linear nevus sebaceus syndrome.
Topics: Aspartic Acid; Brain Chemistry; Cerebral Cortex; Child, Preschool; Choline; Creatine; Disease Progre | 1998 |
Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome.
Topics: Amino Acid Substitution; Aspartic Acid; Child, Preschool; DNA-Binding Proteins; Exons; Fatal Outcome | 2000 |
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.
Topics: 3T3 Cells; Abnormalities, Multiple; Alanine; Amino Acid Sequence; Animals; Aspartic Acid; Cell Line; | 2000 |
Diffuse metabolic abnormalities in reversible posterior leukoencephalopathy syndrome.
Topics: Adult; Aspartic Acid; Brain Diseases; Choline; Confusion; Creatine; Female; Headache; Humans; Magnet | 2002 |
Abnormalities in neurotransmitter amino acids in dominantly inherited cerebellar disorders.
Topics: Amino Acids; Aspartic Acid; Atrophy; Brain Chemistry; Cerebellar Cortex; Cerebellar Diseases; Cerebe | 1978 |
Hypokalemic myopathy due to chronic alcoholism.
Topics: Adult; Alcoholism; Aspartic Acid; Creatine Kinase; Electromyography; Humans; Hypokalemia; Male; Midd | 1976 |
Comparison of treatments for congenital nonobstructive nonhaemolytic hyperbilirubinaemia.
Topics: Agar; Aspartic Acid; Bilirubin; Brain Damage, Chronic; Child, Preschool; Cholestyramine Resin; Dieta | 1975 |
Quantification of N-acetyl-L-aspartic acid in urine by isotope dilution gas chromatography-mass spectrometry.
Topics: Aspartic Acid; Central Nervous System Diseases; Child; Child, Preschool; Gas Chromatography-Mass Spe | 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.
Topics: 2-Amino-5-phosphonovalerate; Amino Acids; Animals; Aspartic Acid; Atmospheric Pressure; Catalepsy; G | 1989 |
[Characteristics of the amino acid spectrum of the blood of children with intellectual deficiency].
Topics: Amino Acids; Ammonia; Arginine; Aspartic Acid; Child; Female; Glutamates; Glutamic Acid; Humans; Int | 1986 |
N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy.
Topics: Aspartic Acid; Brain; Child; Female; Humans; Infant; Male; Syndrome; Tomography, Emission-Computed | 1988 |
Aspartylglycosaminuria: a gargoyle-like syndrome with autosomal recessive inheritance.
Topics: Adolescent; Adult; Aminoglycosides; Aspartic Acid; Child; Finland; Humans; Mucopolysaccharidoses; Pe | 1974 |
Aspartylglycosaminuria (AGU). Further aspects on its clinical picture, mode of inheritance and epidemiology based on a series of 57 patients.
Topics: Adolescent; Adult; Amidohydrolases; Aspartic Acid; Bone Marrow; Child; Child, Preschool; Consanguini | 1973 |
Narcolepsy and cataplexy. Clinical features, treatment and cerebrospinal fluid findings.
Topics: Adult; Amphetamine; Aspartic Acid; Body Weight; Cataplexy; Cerebrospinal Fluid Proteins; Dextroamphe | 1974 |
Further speculation on the pathogenesis of Leigh's encephalomyelopathy.
Topics: Aspartic Acid; Brain Stem; Citric Acid Cycle; Encephalomalacia; Humans; Intellectual Disability; Lig | 1973 |