serine has been researched along with Developmental Psychomotor Disorders in 12 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 |
|---|---|---|
| "A woman with ichthyosis, contractures, and progressive neuropathy represents the first case of phosphoserine aminotransferase deficiency diagnosed and treated in an adult." | 4.02 | Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy. ( Brown, LH; Cowen, EW; Debs, S; Ferreira, CR; Gahl, WA; Groden, C; Kim, HJ; King, KA; King, MC; Lehky, T; Macnamara, E; Merideth, M; Owen, CM; Soldatos, A; Toro, C, 2021) |
| "Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures as an intermediate phenotype, to a childhood disease with intellectual disability at the mild end." | 3.85 | Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges. ( Benke, PJ; Braffman, BH; El-Hattab, AW; Gassen, KLIV; Hidalgo, RJ; Jans, J; Sunbul, R, 2017) |
| "We report on two new cases of serine deficiency due respectively to 3-phosphoglycerate dehydrogenase (PHGDH) deficiency (Patient 1) and phosphoserine aminotransferase (PSAT1) deficiency (Patient 2), presenting with congenital microcephaly (<3rd centile at birth) and encephalopathy with spasticity." | 3.83 | Two new cases of serine deficiency disorders treated with l-serine. ( Bahi-Buisson, N; Boddaert, N; Brassier, A; de Lonlay, P; Desguerre, I; Habarou, F; Hubert, L; Kaminska, A; Ottolenghi, C; Valayannopoulos, V; Van Schaftingen, E; Wiame, E, 2016) |
| "Congenital microcephaly, intractable seizures and severe psychomotor retardation characterize 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, a disorder of L-serine biosynthesis." | 3.71 | Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids. ( De Koning, TJ; Dorland, L; Duran, M; Gooskens, R; Jaeken, J; Pineda, M; Poll-The, BT; Van Maldergem, L, 2002) |
| "Serine concentrations were markedly decreased in the cerebrospinal fluid of two brothers with congenital microcephaly, profound psychomotor retardation, hypertonia, epilepsy, growth retardation, and hypogonadism." | 3.69 | 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis. ( Carchon, H; Detheux, M; Foulon, M; Jaeken, J; Van Maldergem, L; Van Schaftingen, E, 1996) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (8.33) | 18.7374 |
| 1990's | 1 (8.33) | 18.2507 |
| 2000's | 1 (8.33) | 29.6817 |
| 2010's | 7 (58.33) | 24.3611 |
| 2020's | 2 (16.67) | 2.80 |
| Authors | Studies |
|---|---|
| Ali, A | 1 |
| Dhahouri, NA | 1 |
| Almesmari, FSA | 1 |
| Fathalla, WM | 1 |
| Jasmi, FA | 1 |
| Debs, S | 1 |
| Ferreira, CR | 1 |
| Groden, C | 1 |
| Kim, HJ | 1 |
| King, KA | 1 |
| King, MC | 1 |
| Lehky, T | 1 |
| Cowen, EW | 1 |
| Brown, LH | 1 |
| Merideth, M | 1 |
| Owen, CM | 1 |
| Macnamara, E | 1 |
| Toro, C | 1 |
| Gahl, WA | 1 |
| Soldatos, A | 1 |
| Glinton, KE | 1 |
| Benke, PJ | 2 |
| Lines, MA | 1 |
| Geraghty, MT | 1 |
| Chakraborty, P | 1 |
| Al-Dirbashi, OY | 1 |
| Jiang, Y | 1 |
| Kennedy, AD | 1 |
| Grotewiel, MS | 1 |
| Sutton, VR | 1 |
| Elsea, SH | 1 |
| El-Hattab, AW | 2 |
| Vandekeere, S | 1 |
| Dubois, C | 1 |
| Kalucka, J | 1 |
| Sullivan, MR | 1 |
| García-Caballero, M | 1 |
| Goveia, J | 1 |
| Chen, R | 1 |
| Diehl, FF | 1 |
| Bar-Lev, L | 1 |
| Souffreau, J | 1 |
| Pircher, A | 1 |
| Kumar, S | 1 |
| Vinckier, S | 1 |
| Hirabayashi, Y | 1 |
| Furuya, S | 2 |
| Schoonjans, L | 1 |
| Eelen, G | 1 |
| Ghesquière, B | 1 |
| Keshet, E | 1 |
| Li, X | 1 |
| Vander Heiden, MG | 1 |
| Dewerchin, M | 1 |
| Carmeliet, P | 1 |
| van der Crabben, SN | 1 |
| Verhoeven-Duif, NM | 1 |
| Brilstra, EH | 1 |
| Van Maldergem, L | 3 |
| Coskun, T | 1 |
| Rubio-Gozalbo, E | 1 |
| Berger, R | 1 |
| de Koning, TJ | 2 |
| Shaheen, R | 1 |
| Rahbeeni, Z | 1 |
| Alhashem, A | 1 |
| Faqeih, E | 1 |
| Zhao, Q | 1 |
| Xiong, Y | 1 |
| Almoisheer, A | 1 |
| Al-Qattan, SM | 1 |
| Almadani, HA | 1 |
| Al-Onazi, N | 1 |
| Al-Baqawi, BS | 1 |
| Saleh, MA | 1 |
| Alkuraya, FS | 1 |
| Sayano, T | 1 |
| Esaki, K | 1 |
| Brassier, A | 1 |
| Valayannopoulos, V | 1 |
| Bahi-Buisson, N | 1 |
| Wiame, E | 1 |
| Hubert, L | 1 |
| Boddaert, N | 1 |
| Kaminska, A | 1 |
| Habarou, F | 1 |
| Desguerre, I | 1 |
| Van Schaftingen, E | 2 |
| Ottolenghi, C | 1 |
| de Lonlay, P | 1 |
| Hidalgo, RJ | 1 |
| Braffman, BH | 1 |
| Jans, J | 1 |
| Gassen, KLIV | 1 |
| Sunbul, R | 1 |
| Duran, M | 1 |
| Pineda, M | 1 |
| Dorland, L | 1 |
| Gooskens, R | 1 |
| Jaeken, J | 2 |
| Poll-The, BT | 1 |
| Detheux, M | 1 |
| Foulon, M | 1 |
| Carchon, H | 1 |
| Larbre, F | 1 |
| Hartemann, E | 1 |
| Guibaud, P | 1 |
| Collombel, C | 1 |
| Guerrier, G | 1 |
1 review available for serine and Developmental Psychomotor Disorders
| Article | Year |
|---|---|
[Essentiality of de novo L-serine synthesis for embryonic development and higher functions].
Topics: Animals; Brain; Carbohydrate Metabolism, Inborn Errors; Embryo, Mammalian; Gene Expression Regulatio | 2014 |
11 other studies available for serine and Developmental Psychomotor Disorders
| Article | Year |
|---|---|
Characterization of
Topics: Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Electron-Transferring Flavoproteins; Femal | 2021 |
Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.
Topics: Adult; Child, Preschool; Congenital Abnormalities; Exome Sequencing; Female; Fetal Growth Retardatio | 2021 |
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.
Topics: Carbohydrate Metabolism, Inborn Errors; Cell Differentiation; Child; Child, Preschool; Dietary Suppl | 2018 |
Serine Synthesis via PHGDH Is Essential for Heme Production in Endothelial Cells.
Topics: Apoptosis; Carbohydrate Metabolism, Inborn Errors; Cell Line, Tumor; Cell Proliferation; Cell Surviv | 2018 |
An update on serine deficiency disorders.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Humans; Infant; In | 2013 |
Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.
Topics: Abnormalities, Multiple; Alleles; Amino Acid Sequence; Animals; Brain Diseases; Carbohydrate Metabol | 2014 |
Two new cases of serine deficiency disorders treated with l-serine.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carbohydrate Metabolism, Inborn Errors; Ch | 2016 |
Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.
Topics: Abnormalities, Multiple; Adolescent; Brain Diseases; Carbohydrate Metabolism, Inborn Errors; Child, | 2017 |
Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids.
Topics: Carbohydrate Dehydrogenases; Child; Child, Preschool; Female; Glycine; Humans; Infant; Male; Microce | 2002 |
3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Dehydrogenases; Fibroblasts; Glycine; Humans; Inf | 1996 |
[Glycinosis with acidocetosis of late revelation and favorable evolution].
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Glutamates; Gl | 1970 |