glycine has been researched along with CBS Deficiency in 27 studies
Excerpt | Relevance | Reference |
---|---|---|
"Genetic and dietary hyperhomocysteinemia has been found to decrease high density lipoproteins (HDL) and their apolipoprotein A1 (APOA1)." | 7.76 | Cysteinemia, rather than homocysteinemia, is associated with plasma apolipoprotein A-I levels in hyperhomocysteinemia: lipid metabolism in cystathionine beta-synthase deficiency. ( Arnal, C; Barranquero, C; Bregante, MA; García-Gimeno, MA; Gascón, S; Godino, J; Guillén, N; Guzmán, MA; Hernandez, E; Lou-Bonafonte, JM; Navarro, MA; Nuño-Ayala, M; Osada, J; Royo-Cañas, M; Sarría, AJ, 2010) |
" Individuals with combined methylmalonic aciduria and homocystinuria have a functional impairment of the creatine synthetic pathway probably secondary to a relative depletion of labile methyl groups." | 7.73 | Creatine metabolism in combined methylmalonic aciduria and homocystinuria. ( Beaudet, AL; Bodamer, OA; Bottiglieri, T; O'Brien, WE; Sahoo, T; Scaglia, F; Stöckler-Ipsiroglu, S; Wagner, C, 2005) |
" 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) |
"Genetic and dietary hyperhomocysteinemia has been found to decrease high density lipoproteins (HDL) and their apolipoprotein A1 (APOA1)." | 3.76 | Cysteinemia, rather than homocysteinemia, is associated with plasma apolipoprotein A-I levels in hyperhomocysteinemia: lipid metabolism in cystathionine beta-synthase deficiency. ( Arnal, C; Barranquero, C; Bregante, MA; García-Gimeno, MA; Gascón, S; Godino, J; Guillén, N; Guzmán, MA; Hernandez, E; Lou-Bonafonte, JM; Navarro, MA; Nuño-Ayala, M; Osada, J; Royo-Cañas, M; Sarría, AJ, 2010) |
" Individuals with combined methylmalonic aciduria and homocystinuria have a functional impairment of the creatine synthetic pathway probably secondary to a relative depletion of labile methyl groups." | 3.73 | Creatine metabolism in combined methylmalonic aciduria and homocystinuria. ( Beaudet, AL; Bodamer, OA; Bottiglieri, T; O'Brien, WE; Sahoo, T; Scaglia, F; Stöckler-Ipsiroglu, S; Wagner, C, 2005) |
" 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) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 21 (77.78) | 18.7374 |
1990's | 3 (11.11) | 18.2507 |
2000's | 2 (7.41) | 29.6817 |
2010's | 1 (3.70) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Nuño-Ayala, M | 1 |
Guillén, N | 1 |
Navarro, MA | 1 |
Lou-Bonafonte, JM | 1 |
Arnal, C | 1 |
Gascón, S | 1 |
Barranquero, C | 1 |
Godino, J | 1 |
Royo-Cañas, M | 1 |
Sarría, AJ | 1 |
Guzmán, MA | 1 |
Hernandez, E | 1 |
Bregante, MA | 1 |
García-Gimeno, MA | 1 |
Osada, J | 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 |
Bodamer, OA | 1 |
Sahoo, T | 1 |
Beaudet, AL | 1 |
O'Brien, WE | 1 |
Bottiglieri, T | 1 |
Stöckler-Ipsiroglu, S | 1 |
Wagner, C | 1 |
Scaglia, F | 1 |
Wellner, D | 1 |
Meister, A | 1 |
Hu, FL | 1 |
Gu, Z | 1 |
Kozich, V | 1 |
Kraus, JP | 2 |
Ramesh, V | 1 |
Shih, VE | 1 |
Dawson, PA | 1 |
Cochran, DA | 1 |
Emmerson, BT | 1 |
Dudman, NP | 1 |
Gordon, RB | 1 |
Vion-Dury, J | 1 |
Salvan, AM | 1 |
Confort-Gouny, S | 1 |
Cozzone, PJ | 1 |
Greco, GM | 1 |
Magli, A | 1 |
Omenn, GS | 1 |
Frimpter, GW | 1 |
Yadav, GC | 1 |
Reavey, PC | 1 |
Holmgren, G | 2 |
Moore, PT | 1 |
Martin, MC | 1 |
Coffey, VP | 1 |
Chmaleva, NP | 1 |
Kalmykova, LG | 1 |
Brissaud, HE | 1 |
Martin, JJ | 1 |
Schlote, W | 1 |
Kroll, S | 2 |
Zebisch, P | 2 |
Toussaint, W | 2 |
Tomaszewski, L | 1 |
Efron, ML | 1 |
Ampola, MG | 1 |
Menne, F | 1 |
Thalhammer, O | 1 |
Scheibenreiter, S | 1 |
Schön, R | 1 |
Knoll, E | 1 |
Schmierer, G | 1 |
Gaull, GE | 1 |
Morrow, G | 1 |
Barness, LA | 1 |
Tada, K | 1 |
Levy, HL | 1 |
Barkin, E | 1 |
Jeppson, JO | 1 |
Samuelson, G | 1 |
5 reviews available for glycine and CBS Deficiency
Article | Year |
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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 |
[Eye manifestations of amino acid disorders].
Topics: Alanine; Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Child; Cystinosis; Cystinuria | 1978 |
Inborn errors of metabolism: clues to understanding human behavioral disorders.
Topics: Adrenal Hyperplasia, Congenital; Brain; Galactosemias; Glycine; Hepatolenticular Degeneration; Heter | 1976 |
The aminoacidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; H | 1967 |
[Feeble mindedness caused by genetic disorders of amino acid metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Glycine; Hartnup Disease; Histi | 1968 |
22 other studies available for glycine and CBS Deficiency
Article | Year |
---|---|
Cysteinemia, rather than homocysteinemia, is associated with plasma apolipoprotein A-I levels in hyperhomocysteinemia: lipid metabolism in cystathionine beta-synthase deficiency.
Topics: Administration, Oral; Animals; Apolipoprotein A-I; Beverages; Biomarkers; Blood Glucose; Cholesterol | 2010 |
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 |
Creatine metabolism in combined methylmalonic aciduria and homocystinuria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Creatine; Female; Glycine; Hom | 2005 |
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 |
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 |
Atlas of brain proton magnetic resonance spectra. Part II: Inherited metabolic encephalopathies.
Topics: Adipates; Adult; Anatomy, Artistic; Argininosuccinic Acid; Argininosuccinic Aciduria; Brain; Brain D | 1998 |
Sulfur amino acids, hyperglycinemia, and certain possibly benign conditions.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Cystathionine; Diagnosis, Differential; D | 1976 |
Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Citrulline; | 1988 |
Urinary metabolic screening of mentally retarded patients from institutions in the northern part of Sweden.
Topics: Abnormalities, Multiple; Adolescent; Adult; Amino Acids; Child; Eye Diseases; Female; Glycine; Glyco | 1973 |
Screening for biochemical abnormalities in the urine of the mentally handicapped in Dublin.
Topics: Adolescent; Adult; Amino Acids; Arginine; Child; Child, Preschool; Chromatography, Paper; Cystinuria | 1972 |
[A population-biochemical study of mentally retarded persons in the Tula region (a geneologic analysis of families of probands with hereditary metabolic defects)].
Topics: Amino Acid Metabolism, Inborn Errors; Glycine; Homocystinuria; Humans; Inbreeding; Intellectual Disa | 1974 |
[Dietetics of amino acid metabolism disorders].
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Glycine; Histidine; Homocystinuria; Humans; Isol | 1971 |
Neuropathological study of aminoacidurias.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Central Nervous System; Cystathionine; Female; Gl | 1972 |
[Hereditary amino acid metabolism disorders. Indications for early diagnosis].
Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cystathionine; | 1972 |
[Diagnosis of inborn amino acid metabolism errors. Important symptoms and laboratory methods].
Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Clinical Labora | 1972 |
[The inborn errors of metabolism of amino acids].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chemical Phenomena; Chemistry; Cystinuria; Glycin | 1973 |
[5 years of the Austrian program for the early detection of inborn errors of metabolism. Activity report].
Topics: Amino Acid Metabolism, Inborn Errors; Austria; Child, Preschool; Chromatography, Thin Layer; Diet Th | 1972 |
Homocystinuria, vitamin B 6 , and folate: metabolic interrelationships and clinical significance.
Topics: Alcohol Oxidoreductases; Cystathionine; Folic Acid; Glycine; Homocystine; Homocystinuria; Humans; L- | 1972 |
Combined vitamin responsiveness in homocystinuria.
Topics: Adolescent; Adult; Amino Acids; Child; Drug Synergism; Female; Folic Acid; Folic Acid Deficiency; Gl | 1972 |
[Treatment of amino acid metabolism anomalies].
Topics: Amino Acid Metabolism, Inborn Errors; Glycine; Homocystinuria; Humans; Phenylketonurias; Tyrosine | 1971 |
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 |
High-voltage electrophoresis in urinary amino acid screening.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ampicillin; Chromatography; Cystinuria; Electroph | 1970 |