serine has been researched along with Deficiency, Mental in 23 studies
Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Patients are affected with congenital microcephaly, psychomotor retardation, and intractable seizures." | 5.30 | Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency. ( Berger, R; Blau, N; de Koning, TJ; Dorland, L; Duran, M; Gooskens, R; Jaeken, J; Poll-The, BT; Van Schaftingen, E, 1998) |
| "Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones." | 1.46 | Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation. ( Bertsche, A; Gesing, J; Hirsch, FW; Hoppmann, J; Kiess, W; Leroy, C; Pfäffle, R; Schuster, V; Silve, C, 2017) |
| "Fragile X syndrome is caused by loss of FMR1 protein expression." | 1.31 | Casein kinase II phosphorylates the fragile X mental retardation protein and modulates its biological properties. ( Higashijima, K; Ishizuka, A; Siomi, H; Siomi, MC, 2002) |
| "They presented with congenital microcephaly, severe psychomotor retardation and intractable seizures." | 1.31 | Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency. ( de Koning, TJ; Jaeken, J; Pineda, M; Poll-The, BT; van der Knaap, MS; Van Maldergem, L, 2000) |
| "Patients are affected with congenital microcephaly, psychomotor retardation, and intractable seizures." | 1.30 | Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency. ( Berger, R; Blau, N; de Koning, TJ; Dorland, L; Duran, M; Gooskens, R; Jaeken, J; Poll-The, BT; Van Schaftingen, E, 1998) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 17 (73.91) | 18.7374 |
| 1990's | 1 (4.35) | 18.2507 |
| 2000's | 2 (8.70) | 29.6817 |
| 2010's | 2 (8.70) | 24.3611 |
| 2020's | 1 (4.35) | 2.80 |
| Authors | Studies |
|---|---|
| den Hollander, B | 1 |
| Veenvliet, ARJ | 1 |
| Rothuizen-Lindenschot, M | 1 |
| van Essen, P | 1 |
| Peters, G | 1 |
| Santos-Gómez, A | 1 |
| Olivella, M | 1 |
| Altafaj, X | 1 |
| Brands, MM | 1 |
| Jacobs, BAW | 1 |
| van Karnebeek, CD | 1 |
| Hoppmann, J | 1 |
| Gesing, J | 1 |
| Silve, C | 1 |
| Leroy, C | 1 |
| Bertsche, A | 1 |
| Hirsch, FW | 1 |
| Kiess, W | 1 |
| Pfäffle, R | 1 |
| Schuster, V | 1 |
| Kraoua, I | 1 |
| Wiame, E | 1 |
| Kraoua, L | 1 |
| Nasrallah, F | 1 |
| Benrhouma, H | 1 |
| Rouissi, A | 1 |
| Turki, I | 1 |
| Chaabouni, H | 1 |
| Briand, G | 1 |
| Kaabachi, N | 1 |
| Van Schaftingen, E | 2 |
| Gouider-Khouja, N | 1 |
| Siomi, MC | 1 |
| Higashijima, K | 1 |
| Ishizuka, A | 1 |
| Siomi, H | 1 |
| DINGMAN, HF | 1 |
| WRIGHT, SW | 1 |
| NYHAN, WL | 2 |
| CHILDS, B | 1 |
| Kang, ES | 1 |
| Seyer, J | 1 |
| Todd, TA | 1 |
| Herrera, C | 1 |
| Lejeune, J | 1 |
| de Koning, TJ | 2 |
| Duran, M | 1 |
| Dorland, L | 1 |
| Gooskens, R | 1 |
| Jaeken, J | 2 |
| Blau, N | 1 |
| Berger, R | 1 |
| Poll-The, BT | 2 |
| Pineda, M | 1 |
| Van Maldergem, L | 1 |
| van der Knaap, MS | 1 |
| Hultberg, B | 1 |
| Ockerman, PA | 1 |
| Eriksson, O | 1 |
| Shaw, KN | 1 |
| Lieberman, E | 1 |
| Koch, R | 1 |
| Donnell, GN | 1 |
| Ionasescu, V | 1 |
| Stegink, L | 1 |
| Mueller, S | 1 |
| Weinstein, M | 1 |
| Reploh, H | 1 |
| Gröbe, H | 1 |
| Diekmann, L | 1 |
| Palm, D | 1 |
| von Bassewitz, DB | 1 |
| Jenett, W | 1 |
| Tippett, P | 1 |
| Danks, DM | 1 |
| Kerr, GR | 1 |
| Chamove, AS | 1 |
| Harlow, HF | 1 |
| Waisman, HA | 1 |
| Sabater, J | 1 |
| Ferre, C | 1 |
| Antich, J | 1 |
| Baumgartner, R | 1 |
| Ando, T | 1 |
| De Groot, CJ | 1 |
| Troelstra, JA | 1 |
| Hommes, FA | 1 |
| McKean, CM | 1 |
| Peterson, NA | 1 |
| Wong, PW | 1 |
| Komrower, GM | 1 |
| Schwarz, V | 1 |
| Bieber, G | 1 |
| Cesario, S | 1 |
| Mann, TP | 1 |
1 review available for serine and Deficiency, Mental
| Article | Year |
|---|---|
3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Intellectual Disability; Mal | 2013 |
22 other studies available for serine and Deficiency, Mental
| Article | Year |
|---|---|
Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder.
Topics: Child, Preschool; Cognition; Female; Humans; Infant; Intellectual Disability; Neurodevelopmental Dis | 2023 |
Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation.
Topics: Adult; Amino Acid Substitution; Child, Preschool; Cyclic AMP-Dependent Protein Kinases; Cyclic Nucle | 2017 |
Casein kinase II phosphorylates the fragile X mental retardation protein and modulates its biological properties.
Topics: Amino Acid Sequence; Animals; Casein Kinase II; Cell Fractionation; Cell Line; DNA-Binding Proteins; | 2002 |
A MULTIVARIATE ANALYSIS OF AMINO-ACID EXCRETIONS.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Biomedical Research; Child; Chromatograp | 1964 |
HYPERGLYCINEMIA. V. THE MISCIBLE POOL AND TURNOVER RATE OF GLYCINE AND THE FORMATION OF SERINE.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood; Child; Chromatography; Glycine; Humans; In | 1964 |
Variability in the phenotypic expression of abnormal sarcosine metabolism in a family.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Genetic Variation; Glycine; H | 1983 |
[Fragile site Xq27 and metabolism of monocarbons].
Topics: Amino Acids; Aminolevulinic Acid; Female; Formyltetrahydrofolates; Humans; Hydroxyproline; Intellect | 1980 |
Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency.
Topics: Carbohydrate Dehydrogenases; Child; Child, Preschool; Drug Therapy, Combination; Electroencephalogra | 1998 |
Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency.
Topics: Amino Acids; Carbohydrate Dehydrogenases; Cerebral Cortex; Child; Child, Preschool; Choline; Demyeli | 2000 |
Urinary amino acids in storage disorders: mucopolysaccharidosis, Gaucher's disease and metachromatic leucodystrophy.
Topics: Adolescent; Adult; Amino Acids; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Dif | 1969 |
Cystathioninuria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carcinoma, Hepatocellular; Child, Preschoo | 1967 |
Amino acid abnormality in Sjögren-Larsson syndrome.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Dental Enamel Hypoplasia; Epilepsy; Ethylamines; G | 1973 |
The clinical findings in a patient with nonketotic hyperglycinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Glycine; Humans; Infant; Intellectual Disability | 1973 |
The clinical and biochemical findings in three cases of hypersarcosinemia and one case of transient hypersarcosinuria associated with folic acid deficiency.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Anemia, Macrocytic; Electrophoresis; Female; Folic | 1974 |
"Fetal PKU:" the effect of maternal hyperphenylalaninemia during pregnancy in the rhesus monkey (Macaca mulatta).
Topics: Amino Acids; Animals; Animals, Newborn; Birth Weight; Diet; Female; Fetal Diseases; Haplorhini; Huma | 1968 |
Abnormal levels of aspartic acid, serine and cystine in the plasma in three cases of Rubinstein Taybi's syndrome.
Topics: Abnormalities, Multiple; Aspartic Acid; Chromatography, Ion Exchange; Cystine; Female; Humans; Intel | 1972 |
Nonketotic hyperglycinemia.
Topics: Agranulocytosis; Amino Acid Metabolism, Inborn Errors; Benzoates; Body Weight; Carbon Isotopes; Diet | 1969 |
Nonketotic hyperglycinemia: an in vitro study of the glycine-serine conversion in liver of three patients and the effect of dietary methionine.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Biopsy; Carbon Isotopes; Culture Techniques; Diet Th | 1970 |
Glutamine in the phenylketonuric central nervous system.
Topics: Adolescent; Adult; Amino Acids; Biological Transport, Active; Brain; Brain Chemistry; Child; Female; | 1970 |
The biosynthesis of cystathionine in patients with homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain; Child; Child, Preschool; Chromato | 1968 |
[Preliminary results of a drug therapy of a group of school-age mental retardates].
Topics: Adolescent; Amino Acids; Arginine; Child; Female; Glutamine; Humans; Intellectual Disability; Male; | 1969 |
Mental retardation, abnormal hair and mild aminoaciduria, all of unknown aetiology, in siblings.
Topics: Alanine; Child, Preschool; Female; Fluoroscopy; Glutamine; Glycine; Hair; Humans; Intellectual Disab | 1969 |