serine has been researched along with CBS Deficiency in 17 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 |
|---|---|---|
| " All patients have pyridoxine nonresponsive homocystinuria." | 7.68 | Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. ( Gu, Z; Hu, FL; Kozich, V; Kraus, JP; Ramesh, V; Shih, VE, 1993) |
| "Homocystinuria due to cystathionine beta-synthase deficiency may be responsive to pyridoxine, a precursor of the cofactor pyridoxal phosphate, and the amount of residual enzyme activity present is the probable determinant of this." | 7.67 | Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients. ( Dudman, NP; Tyrrell, PA; Wilcken, DE, 1985) |
| "We investigated the effect of pyridoxine administration in three patients with homocystinuria due to cystathionine synthase deficiency." | 7.65 | Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine. ( Brown, MS; Edwards, WA; Laster, L; Loeb, PM; Mudd, SH, 1970) |
| "Cystathionine was absent in the cerebrum of a patient with homocystinuria." | 7.64 | HOMOCYSTINURIA: ABSENCE OF CYSTATHIONINE IN THE BRAIN. ( GERRITSEN, T; WAISMAN, HA, 1964) |
| "The cblE type of homocystinuria is a rare autosomal recessive disorder, which manifests with megaloblastic anaemia and developmental delay in early childhood." | 5.31 | CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. ( Fowler, B; Kozich, V; Pristoupilová, K; Suormala, T; Zavad'áková, P; Zavadakova, P; Zeman, J, 2002) |
| "Methionine synthase reductase (MTRR) is the locus of the cblE class of inborn errors of cobalamin metabolism that is characterized by megaloblastic anemia and homocystinuria." | 3.74 | Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation. ( Banerjee, R; Gherasim, C; Rosenblatt, DS, 2007) |
| " All patients have pyridoxine nonresponsive homocystinuria." | 3.68 | Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. ( Gu, Z; Hu, FL; Kozich, V; Kraus, JP; Ramesh, V; Shih, VE, 1993) |
| "Homocystinuria due to cystathionine beta-synthase deficiency may be responsive to pyridoxine, a precursor of the cofactor pyridoxal phosphate, and the amount of residual enzyme activity present is the probable determinant of this." | 3.67 | Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients. ( Dudman, NP; Tyrrell, PA; Wilcken, DE, 1985) |
| "We investigated the effect of pyridoxine administration in three patients with homocystinuria due to cystathionine synthase deficiency." | 3.65 | Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine. ( Brown, MS; Edwards, WA; Laster, L; Loeb, PM; Mudd, SH, 1970) |
| "Cystathionine was absent in the cerebrum of a patient with homocystinuria." | 3.64 | HOMOCYSTINURIA: ABSENCE OF CYSTATHIONINE IN THE BRAIN. ( GERRITSEN, T; WAISMAN, HA, 1964) |
| "The cblE type of homocystinuria is a rare autosomal recessive disorder, which manifests with megaloblastic anaemia and developmental delay in early childhood." | 1.31 | CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. ( Fowler, B; Kozich, V; Pristoupilová, K; Suormala, T; Zavad'áková, P; Zavadakova, P; Zeman, J, 2002) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 11 (64.71) | 18.7374 |
| 1990's | 3 (17.65) | 18.2507 |
| 2000's | 3 (17.65) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Zavadakova, P | 1 |
| Fowler, B | 1 |
| Zeman, J | 1 |
| Suormala, T | 1 |
| Pristoupilová, K | 1 |
| Kozich, V | 2 |
| Zavad'áková, P | 1 |
| Urreizti, R | 1 |
| Balcells, S | 1 |
| Rodés, M | 1 |
| Vilarinho, L | 1 |
| Baldellou, A | 1 |
| Couce, ML | 1 |
| Muñoz, C | 1 |
| Campistol, J | 1 |
| Pintó, X | 1 |
| Vilaseca, MA | 1 |
| Grinberg, D | 1 |
| GERRITSEN, T | 1 |
| WAISMAN, HA | 1 |
| Gherasim, C | 1 |
| Rosenblatt, DS | 1 |
| Banerjee, R | 1 |
| Wellner, D | 1 |
| Meister, A | 1 |
| Hu, FL | 1 |
| Gu, Z | 1 |
| Kraus, JP | 2 |
| Ramesh, V | 1 |
| Shih, VE | 1 |
| Dudman, NP | 3 |
| Guo, XW | 1 |
| Gordon, RB | 2 |
| Dawson, PA | 2 |
| Wilcken, DE | 2 |
| Cochran, DA | 1 |
| Emmerson, BT | 1 |
| Tyrrell, PA | 1 |
| Porter, PN | 1 |
| Grishaver, MS | 1 |
| Jones, OW | 1 |
| Kim, YJ | 1 |
| Rosenberg, LE | 1 |
| Uhlendorf, BW | 1 |
| Conerly, EB | 1 |
| Mudd, SH | 2 |
| Goldstein, JL | 1 |
| Campbell, BK | 1 |
| Gartler, SM | 1 |
| Levy, HL | 1 |
| Barkin, E | 1 |
| Edwards, WA | 1 |
| Loeb, PM | 1 |
| Brown, MS | 1 |
| Laster, L | 1 |
| Mönch, E | 1 |
| Stefan, H | 1 |
| Käser, H | 1 |
| Wong, PW | 1 |
| Komrower, GM | 1 |
| Schwarz, V | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Efficacy of Betaine for Reduction of Urine Oxalate in Patients With Type 1 Primary Hyperoxaluria[NCT00283387] | Phase 2 | 15 participants (Actual) | Interventional | 2007-02-28 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
"The patients were randomly assigned oral betaine or placebo for 2 months, followed by a 2 month washout. Each patient then received the alternate study medication for 2 months.~Urinary Oxalate Excretion was measured by oxalate oxidase. Two 24 hour urine collections were obtained at baseline, and during the eighth week of each study period." (NCT00283387)
Timeframe: baseline, 2 months, 6 months
| Intervention | umol/mg (Mean) |
|---|---|
| Betaine | 1.43 |
| Placebo | 1.04 |
1 review available for serine and CBS Deficiency
| Article | Year |
|---|---|
A survey of inborn errors of amino acid metabolism and transport in man.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Branched-Chain; Biological Transport | 1981 |
16 other studies available for serine and CBS Deficiency
| Article | Year |
|---|---|
CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families.
Topics: Adult; Anemia, Megaloblastic; Base Sequence; Cells, Cultured; Child; Chromatography, Ion Exchange; D | 2002 |
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.
Topics: Adolescent; Adult; Amino Acid Sequence; Amino Acid Substitution; Animals; Child; Child, Preschool; C | 2003 |
HOMOCYSTINURIA: ABSENCE OF CYSTATHIONINE IN THE BRAIN.
Topics: Amino Acids; Brain; Child; Chromatography; Cystathionine; Cystathionine beta-Synthase; Cystine; Homo | 1964 |
Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation.
Topics: Escherichia coli; Ferredoxin-NADP Reductase; Flavins; Homocystinuria; Humans; Kinetics; Leucine; Met | 2007 |
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
Topics: Adult; Amino Acid Sequence; Base Sequence; Cystathionine beta-Synthase; DNA; Exons; Female; Genes, R | 1993 |
Human homocysteine catabolism: three major pathways and their relevance to development of arterial occlusive disease.
Topics: Arterial Occlusive Diseases; Betaine; Homocysteine; Homocystinuria; Humans; Male; Serine | 1996 |
Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.
Topics: Adolescent; Adult; Amino Acid Sequence; Cystathionine beta-Synthase; Female; Glycine; Heterozygote; | 1996 |
Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients.
Topics: Adolescent; Adult; Betaine; Child; Cystathionine beta-Synthase; Cysteine; Drug Therapy, Combination; | 1985 |
Characterization of human cystathionine beta-synthase. Evidence for the identity of human L-serine dehydratase and cystathionine beta-synthase.
Topics: Carbon Radioisotopes; Cells, Cultured; Centrifugation, Density Gradient; Chromatography, DEAE-Cellul | 1974 |
On the mechanism of pyridoxine responsive homocystinuria. II. Properties of normal and mutant cystathionine beta-synthase from cultured fibroblasts.
Topics: Adult; Carbon Radioisotopes; Cells, Cultured; Child; Cystathionine; Enzyme Activation; Fibroblasts; | 1974 |
Homocystinuria: studies in tissue culture.
Topics: Culture Techniques; Fibroblasts; Heterozygote; Homocysteine; Homocystine; Homocystinuria; Humans; Hy | 1973 |
Cystathionine synthase activity in human lymphocytes: induction by phytohemagglutinin.
Topics: Adolescent; Adult; Cells, Cultured; Chromatography, Thin Layer; Cystathionine; Enzyme Induction; Fem | 1972 |
Comparison of amino acid concentrations between plasma and erythrocytes. Studies in normal human subjects and those with metabolic disorders.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Aspartic Acid; Biological Transp | 1971 |
Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine.
Topics: Adult; Aldehydes; Autoanalysis; Carbon Isotopes; Chromatography; Cysteine; Diet; Diet Therapy; Enzym | 1970 |
[Pepper type neuroblastoma with homocystinuria. Diagnosis, biochemistry and therapy].
Topics: Amino Acids; Catecholamines; Child, Preschool; Cyclophosphamide; Dopamine; Homocystinuria; Humans; L | 1970 |
The biosynthesis of cystathionine in patients with homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain; Child; Child, Preschool; Chromato | 1968 |