serine has been researched along with Carbohydrate Metabolism, Inborn Error in 16 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 |
|---|---|---|
| "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) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 5 (31.25) | 18.7374 |
| 1990's | 3 (18.75) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 6 (37.50) | 24.3611 |
| 2020's | 2 (12.50) | 2.80 |
| Authors | Studies |
|---|---|
| Sass, JO | 1 |
| Behringer, S | 1 |
| Fernando, M | 1 |
| Cesaroni, E | 1 |
| Cursio, I | 1 |
| Volpini, A | 1 |
| Till, C | 1 |
| Ali, A | 1 |
| Dhahouri, NA | 1 |
| Almesmari, FSA | 1 |
| Fathalla, WM | 1 |
| Jasmi, FA | 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 | 2 |
| 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 |
| 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 | 1 |
| Ottolenghi, C | 1 |
| de Lonlay, P | 1 |
| Hidalgo, RJ | 1 |
| Braffman, BH | 1 |
| Jans, J | 1 |
| Gassen, KLIV | 1 |
| Sunbul, R | 1 |
| McCormack, AL | 1 |
| Mononen, I | 1 |
| Kaartinen, V | 1 |
| Yates, JR | 1 |
| Matsumoto, Y | 1 |
| Matsumoto, M | 1 |
| Toida, T | 1 |
| Iida, N | 1 |
| Matsubara, T | 1 |
| Kanzaki, T | 1 |
| Yokota, M | 1 |
| Ishizuka, I | 1 |
| Bonham, JR | 1 |
| Stephenson, TJ | 1 |
| Carpenter, KH | 1 |
| Rattenbury, JM | 1 |
| Cromby, CH | 1 |
| Pollitt, RJ | 1 |
| Hull, D | 1 |
| Kaplan, D | 1 |
| Hultberg, B | 1 |
| Ockerman, PA | 1 |
| Eriksson, O | 1 |
| Onisawa, J | 1 |
| Lee, TY | 1 |
| Touster, O | 1 |
| Spiro, RG | 1 |
3 reviews available for serine and Carbohydrate Metabolism, Inborn Error
| 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 |
Some aspects of the cellular biochemistry of lysosomal and related glycosidases.
Topics: Animals; Carbohydrate Metabolism, Inborn Errors; Diffuse Cerebral Sclerosis of Schilder; Fucose; Gal | 1973 |
Glycoproteins.
Topics: Amino Acids; Animals; Asparagine; Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Chemical Ph | 1970 |
13 other studies available for serine and Carbohydrate Metabolism, Inborn Error
| Article | Year |
|---|---|
d-Glycerate kinase deficiency in a neuropediatric patient.
Topics: Carbohydrate Metabolism, Inborn Errors; Child; Exons; Glyceric Acids; Homozygote; Humans; Male; Meta | 2020 |
Characterization of
Topics: Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Electron-Transferring Flavoproteins; Femal | 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 |
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 |
Localization of the disulfide bond involved in post-translational processing of glycosylasparaginase and disrupted by a mutation in the Finnish-type aspartylglycosaminuria.
Topics: Amino Acid Sequence; Aspartylglucosylaminase; Carbohydrate Metabolism, Inborn Errors; Cysteine; Disu | 1995 |
Isolation and characterization of major urinary amino acid O-glycosides and a dipeptide O-glycoside from a new lysosomal storage disorder (Kanzaki disease). Excessive excretion of serine- and threonine-linked glycan in the patient urine.
Topics: Carbohydrate Metabolism, Inborn Errors; Carbohydrate Sequence; Chromatography, Thin Layer; Glycopept | 1990 |
D(+)-glyceric aciduria: etiology and clinical consequences.
Topics: Administration, Oral; Adolescent; Adult; Carbohydrate Metabolism, Inborn Errors; Child; Child, Presc | 1990 |
A heparitin-serine compound from human urine.
Topics: Amino Acids; Azoles; Carbohydrate Metabolism, Inborn Errors; Chemistry, Clinical; Colorimetry; Glyco | 1967 |
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 |
Biochemical studies of urinary acid mucopolysaccharide--peptide complexes in Hurler's syndrome.
Topics: Amino Acids; Aspartic Acid; Bone and Bones; Carbohydrate Metabolism, Inborn Errors; Child; Child, Pr | 1970 |