arginine and Classic Galactosemia

arginine has been researched along with Classic Galactosemia in 14 studies

Research

Studies (14)

Timeframe	Studies, this research(%)	All Research%
pre-1990	4 (28.57)	18.7374
1990's	5 (35.71)	18.2507
2000's	3 (21.43)	29.6817
2010's	1 (7.14)	24.3611
2020's	1 (7.14)	2.80

Authors

Authors	Studies
Catapano, L; D'Urso, G; Marabotti, A; Scafuri, B; Tammone, C; Verdino, A	1
Achten, J; Berry, GT; Bierau, J; Coelho, AI; Demirbas, D; Derks, B; Haskovic, M; Huang, X; Mackinnon, S; Nyakayiru, J; Peake, RWA; Qi, W; Rubio-Gozalbo, ME; Trommelen, J; van der Ploeg, L; van Loon, LJC; Yue, WW; Zha, L	1
COFFEY, VP	1
Antshel, KM; Epstein, IO; Waisbren, SE	1
Monnier, VM; Nagaraj, RH; Ortwerth, BJ; Prabhakaram, M	1
Gathof, BS; Giugliani, R; Kleinlein, B; Podskarbi, T; Shin, YS; Sommer, M	1
Isshiki, G; Okano, Y	1
Frey, PA; Geeganage, S	1
Gyurus, P; Horváth, A; Kis, A; Kosztolányi, G; László, A; Melegh, B; Schuler, A	1
Angelicheva, D; Hunter, M; Kalaydjieva, L; Levy, HL; Pueschel, SM	1
Monnier, VM; Richard, S; Sell, DR; Tamas, C	1
Levy, HL	2
Alpers, DH; Thier, SO	1

Reviews

2 review(s) available for arginine and Classic Galactosemia

Article	Year
Genetic screening. Advances in human genetics, 1973, Volume: 4 Topics: Amino Acid Metabolism, Inborn Errors; Anemia, Sickle Cell; Arginine; Carbohydrate Metabolism, Inborn Errors; Cystinuria; Erythrocytes; Fanconi Syndrome; Galactosemias; Genetics, Population; Glucosephosphate Dehydrogenase; Glycine; Hartnup Disease; Heterozygote; Histidine; Homocystine; Humans; Lysine; Maple Syrup Urine Disease; Mass Screening; Methods; Ornithine; Phenylalanine; Phenylketonurias; Succinates; Tyrosine	1973
Disorders of intestinal transport of amino acids. American journal of diseases of children (1960), 1969, Volume: 117, Issue:1 Topics: Amino Acids; Arginine; Carbohydrate Metabolism, Inborn Errors; Cystinuria; Fructose; Galactosemias; Genes, Recessive; Glycine; Hartnup Disease; Humans; Intestinal Absorption; Lysine; Methionine; Phenylketonurias; Proline; Renal Tubular Transport, Inborn Errors; Tryptophan	1969

Article

Year

Genetic screening.

Advances in human genetics, 1973, Volume: 4

Topics: Amino Acid Metabolism, Inborn Errors; Anemia, Sickle Cell; Arginine; Carbohydrate Metabolism, Inborn Errors; Cystinuria; Erythrocytes; Fanconi Syndrome; Galactosemias; Genetics, Population; Glucosephosphate Dehydrogenase; Glycine; Hartnup Disease; Heterozygote; Histidine; Homocystine; Humans; Lysine; Maple Syrup Urine Disease; Mass Screening; Methods; Ornithine; Phenylalanine; Phenylketonurias; Succinates; Tyrosine

1973

Disorders of intestinal transport of amino acids.

American journal of diseases of children (1960), 1969, Volume: 117, Issue:1

Topics: Amino Acids; Arginine; Carbohydrate Metabolism, Inborn Errors; Cystinuria; Fructose; Galactosemias; Genes, Recessive; Glycine; Hartnup Disease; Humans; Intestinal Absorption; Lysine; Methionine; Phenylketonurias; Proline; Renal Tubular Transport, Inborn Errors; Tryptophan

1969

Other Studies

12 other study(ies) available for arginine and Classic Galactosemia

Article	Year
Simulation of the Interactions of Arginine with Wild-Type GALT Enzyme and the Classic Galactosemia-Related Mutant p.Q188R by a Computational Approach. Molecules (Basel, Switzerland), 2021, Oct-07, Volume: 26, Issue:19 Topics: Arginine; Binding Sites; Catalytic Domain; Computer Simulation; Galactosemias; Humans; Molecular Chaperones; Molecular Docking Simulation; Mutation; Protein Binding; Protein Conformation; UTP-Hexose-1-Phosphate Uridylyltransferase	2021
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. Orphanet journal of rare diseases, 2018, 11-26, Volume: 13, Issue:1 Topics: Arginine; Aspartic Acid; Cells, Cultured; Fibroblasts; Galactose; Galactosemias; Humans; Metabolism, Inborn Errors; Mutation; Retrospective Studies	2018
MENTAL RETARDATION AND THE INBORN ERRORS OF METABOLISM. Journal of the Irish Medical Association, 1964, Volume: 54 Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Fructose; Galactosemias; Histidine; Homocysteine; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Maple Syrup Urine Disease; Metabolic Diseases; Phenylketonurias; Renal Aminoacidurias; Vitamin B 6 Deficiency	1964
Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study. Neuropsychology, 2004, Volume: 18, Issue:4 Topics: Adolescent; Analysis of Variance; Arginine; Case-Control Studies; Child; Cognition; Female; Galactitol; Galactosemias; Galactosephosphates; Glutamine; Homozygote; Humans; Intelligence; Male; Mutation; Neuropsychological Tests; UTP-Hexose-1-Phosphate Uridylyltransferase	2004
Suppression of pentosidine formation in galactosemic rat lens by an inhibitor of aldose reductase. Diabetes, 1994, Volume: 43, Issue:4 Topics: Aldehyde Reductase; Animals; Arginine; Ascorbic Acid; Diet; Female; Galactitol; Galactose; Galactosemias; Glutathione; Imidazoles; Imidazolidines; Lens, Crystalline; Lysine; Maillard Reaction; Rats; Rats, Sprague-Dawley; Time Factors	1994
Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants. Journal of inherited metabolic disease, 1995, Volume: 18, Issue:5 Topics: Adolescent; Adult; Amino Acid Sequence; Arginine; Base Sequence; Child; Child, Preschool; DNA Restriction Enzymes; Female; Galactosemias; Glutamine; Humans; Male; Molecular Sequence Data; Mutation; Polymorphism, Single-Stranded Conformational; Sequence Analysis; Sequence Homology; UTP-Hexose-1-Phosphate Uridylyltransferase	1995
Newborn mass screening and molecular genetics of phenylketonuria in east Asia. The Southeast Asian journal of tropical medicine and public health, 1995, Volume: 26 Suppl 1 Topics: Alleles; Amino Acid Sequence; Arginine; Asia, Eastern; Base Sequence; Exons; Galactosemias; Genes, Recessive; Genetics, Population; Humans; Incidence; Infant, Newborn; Liver; Mass Screening; Molecular Sequence Data; Mutation; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Polymorphism, Restriction Fragment Length	1995
Transient kinetics of formation and reaction of the uridylyl-enzyme form of galactose-1-P uridylyltransferase and its Q168R-variant: insight into the molecular basis of galactosemia. Biochemistry, 1998, Oct-13, Volume: 37, Issue:41 Topics: Amino Acid Substitution; Arginine; Asparagine; Circular Dichroism; Enzyme Stability; Escherichia coli; Galactosemias; Glutamine; Humans; Iron; Kinetics; Mutagenesis, Site-Directed; Thermodynamics; UDPglucose-Hexose-1-Phosphate Uridylyltransferase; Zinc	1998
Distribution of Q188R and N314D mutations in the Hungarian galactosemic population. Human mutation, 2000, Volume: 16, Issue:1 Topics: Amino Acid Substitution; Arginine; Asparagine; Aspartic Acid; Galactosemias; Gene Frequency; Genetic Carrier Screening; Genetics, Population; Glutamine; Humans; Hungary; Infant, Newborn; Neonatal Screening	2000
Novel mutations in the GALK1 gene in patients with galactokinase deficiency. Human mutation, 2001, Volume: 17, Issue:1 Topics: Adolescent; Adult; Alanine; Amino Acid Sequence; Amino Acid Substitution; Animals; Arginine; Child, Preschool; Cysteine; Female; Galactokinase; Galactosemias; Humans; Male; Methionine; Mice; Molecular Sequence Data; Mutation; Proline; Sequence Deletion; Threonine	2001
Tissue-specific effects of aldose reductase inhibition on fluorescence and cross-linking of extracellular matrix in chronic galactosemia. Relationship to pentosidine cross-links. Diabetes, 1991, Volume: 40, Issue:8 Topics: Aldehyde Reductase; Animals; Arginine; Body Weight; Collagen; Extracellular Matrix; Galactosemias; Glycated Hemoglobin; Imidazoles; Imidazolidines; Lysine; Male; Rats; Rats, Inbred Strains; Reference Values; Spectrometry, Fluorescence; Tendons	1991
Genetic screening: notes added in proof. Advances in human genetics, 1973, Volume: 4 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Cystathionine; Galactosemias; Genetics, Population; Histidine; Humans; Infant; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Phenylalanine; Phenylketonurias; Succinates	1973