arginine and BH4 Deficiency

arginine has been researched along with BH4 Deficiency in 33 studies

Research

Studies (33)

Timeframe	Studies, this research(%)	All Research%
pre-1990	14 (42.42)	18.7374
1990's	4 (12.12)	18.2507
2000's	6 (18.18)	29.6817
2010's	8 (24.24)	24.3611
2020's	1 (3.03)	2.80

Authors

Authors	Studies
Cao, Z; Kong, Y; Li, T; Liu, W; Ma, Z; Rosenbaum, ER; Song, B; Wan, Z; Yue, X; Zhai, Y	1
Aldámiz-Echevarría, L; Andrade, F; Couce, ML; Llarena, M; López-Suárez, O	1
Alcalde, C; Aldámiz-Echevarría, L; Andrade, F; Bueno, MA; Ceberio, L; Couce, ML; de Las Heras, J; Nambo, PS; Núñez-Marcos, S; Villate, O	1
Jin, C; Li, L; Lin, M; Shao, G; Wang, L; Ye, L	1
Banderali, G; Cefalo, G; Giovannini, M; Lassandro, C; Moretti, F; Radaelli, G; Salvatici, E; Verduci, E	1
Beckmann, B; Chobanyan-Jürgens, K; Das, AM; Illsinger, S; Kanzelmeyer, N; Lücke, T; Tsikas, D; Vaske, B	1
Gioni, V; Kalogerakou, M; Papassotiriou, I; Papastamataki, M; Schulpis, KH	1
Bodamer, OA; Huemer, M; Mayr, D; Möslinger, D; Mühl, A; Schmid, I; Simma, B; Ulmer, H	1
Gultepe, M; Ipcioglu, OM; Ozcan, O	1
Beattie, D; Bertorelle, G; Byck, S; Cali, F; Croke, DT; Desviat, LR; Dunican, D; Graham, C; Guldberg, P; Hrabincova, E; Jurkowska, M; Knappskog, P; Kozak, L; Kucinskas, V; Livshits, L; Mayne, PD; Naughten, E; Nechyporenko, M; O'Neill, C; Perez, B; Romano, V; Scriver, CR; Tighe, O; Treacy, E; Tyfield, L; Ugarte, M; Zekanowski, C; Zschocke, J	1
Moini, M; Schultz, CL	1
COFFEY, VP	1
Chiang, SC; Chien, YH; Chou, SP; Huang, A; Huang, YT; Hwu, WL; Tseng, SS	1
Arai, H; Fujihara, K; Ichinose, H; Itoyama, Y; Kikuchi, A; Kimpara, T; Nagai, M; Okamura, N; Shiga, Y; Takeda, A; Tanji, H; Urano, F	1
Cynober, L; Darquy, S; Loï, C; Moinard, C; Neveux, N; Osowska, S	1
Alptekin, D; Demirhindi, H; Froster, UG; Kasap, H; Kasap, M; Lüleyap, HU; Mungan, N; Ozer, G; Pazarbaşi, A	1
Citron, BA; Davis, MD; Greene, CL; Kaufman, S; Milstien, S; Naylor, EW	1
Isshiki, G; Okano, Y	1
Brösicke, H; Herrmann, ME; Keller, M; Mönch, E; Schöffer, A	1
Duc, G; Gitzelmann, R; Steinmann, B; Superti-Furga, A	1
Liappis, N; Mallmann, R; Rosskamp, R; Soetadjii, S	1
Coffey, VP; Martin, MC; Moore, PT	1
Levy, HL	2
Carton, D; Hooft, C	1
Kroll, S; Toussaint, W; Zebisch, P	2
Oldendorf, WH	1
Alpers, DH; Thier, SO	1
Menne, F	1
Barkin, E; Levy, HL	1
Berry, HK	1
Antener, I	1

Reviews

4 review(s) available for arginine and BH4 Deficiency

Article	Year
Diet in children with phenylketonuria and risk of cardiovascular disease: A narrative overview. Nutrition, metabolism, and cardiovascular diseases : NMCD, 2016, Volume: 26, Issue:3 Topics: Adiponectin; Arginine; Blood Pressure; Cardiovascular Diseases; Child; Cholesterol, HDL; Cholesterol, LDL; Diet; Homocysteine; Humans; Oxidative Stress; Pediatric Obesity; Phenylalanine; Phenylketonurias; Risk Factors	2016
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
[Feeble mindedness caused by genetic disorders of amino acid metabolism]. Hippokrates, 1968, May-31, Volume: 39, Issue:10 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Hydroxyproline; Intellectual Disability; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Sarcosine; Succinates; Transferases; Tryptophan; Valine	1968

Other Studies

29 other study(ies) available for arginine and BH4 Deficiency

Article	Year
Benchmark Examination of Blood Amino Acids Patterns in Phenylketonuria Neonates and Young Children on Phenylalanine-Restricted Dietary Treatment. Fetal and pediatric pathology, 2022, Volume: 41, Issue:3 Topics: Arginine; Benchmarking; Child; Child, Preschool; Citrulline; Diet; Humans; Infant, Newborn; Methionine; Phenylalanine; Phenylketonurias; Proline; Tyrosine; Valine	2022
Influence of phenylketonuria's diet on dimethylated arginines and methylation cycle. Medicine, 2017, Volume: 96, Issue:27 Topics: Arginine; Biomarkers; Child; Chromatography, High Pressure Liquid; Creatinine; Cross-Sectional Studies; Female; Folic Acid; Homocysteine; Humans; Male; Mass Spectrometry; Methylation; Patient Compliance; Phenylketonurias; Severity of Illness Index; Vitamin B 12	2017
Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria. European journal of pediatrics, 2019, Volume: 178, Issue:6 Topics: Arginine; Biomarkers; Case-Control Studies; Child; Creatinine; Cross-Sectional Studies; Diet, Protein-Restricted; Female; Humans; Male; Phenylketonurias; Spain	2019
Argininosuccinate synthetase gene is silenced by CpG methylation in children with phenylketonuria. Clinical biochemistry, 2013, Volume: 46, Issue:18 Topics: Arginine; Argininosuccinate Synthase; Case-Control Studies; Child, Preschool; CpG Islands; DNA Methylation; Gene Silencing; Humans; Infant; Phenylketonurias; Promoter Regions, Genetic; RNA, Messenger	2013
Asymmetric dimethylarginine in children with homocystinuria or phenylketonuria. Amino acids, 2012, Volume: 42, Issue:5 Topics: Adolescent; Amidohydrolases; Arginine; Cardiovascular Diseases; Child; Child, Preschool; Dimethylamines; Homocystinuria; Humans; Metabolic Networks and Pathways; Nitric Oxide; Phenylketonurias; Risk Factors; Young Adult	2012
Glutamine, ornithine, citrulline and arginine levels in children with phenylketonuria: The diet effect. Clinical biochemistry, 2011, Volume: 44, Issue:10-11 Topics: Arginine; Case-Control Studies; Child; Citrulline; Diet; Female; Glutamine; Humans; Male; Nutritional Status; Ornithine; Phenylketonurias	2011
Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU). Journal of inherited metabolic disease, 2012, Volume: 35, Issue:5 Topics: Adolescent; Arginine; Atherosclerosis; Blood Glucose; Cardiovascular Diseases; Child; Cross-Sectional Studies; Female; Homocysteine; Humans; Lipid Metabolism; Male; Nitric Oxide; Nitric Oxide Synthase; Oxidative Stress; Phenylalanine; Phenylketonurias	2012
Unexpectedly low asymmetric dimethylarginine (ADMA) and homocysteine levels in patients with phenylketonuria(PKU). Journal of inherited metabolic disease, 2012, Volume: 35, Issue:6 Topics: Arginine; Female; Humans; Male; Phenylketonurias	2012
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe. Human mutation, 2003, Volume: 21, Issue:4 Topics: Amino Acid Substitution; Arginine; Europe; Founder Effect; Genetic Testing; Genetic Variation; Humans; Microsatellite Repeats; Minisatellite Repeats; Mutation; Phenylketonurias; Tryptophan	2003
Analysis of underivatized amino acids and their D/L-enantiomers by sheathless capillary electrophoresis/electrospray ionization mass spectrometry. Analytical chemistry, 2003, Mar-15, Volume: 75, Issue:6 Topics: Amino Acids; Arginine; Canavanine; Electrophoresis, Capillary; Humans; Infant, Newborn; Phenylketonurias; Spectrometry, Mass, Electrospray Ionization; Stereoisomerism; Tyrosinemias	2003
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
Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation. Human mutation, 2004, Volume: 23, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Cysteine; DNA Mutational Analysis; Founder Effect; Genetic Testing; Genotype; Humans; Infant, Newborn; Mutation, Missense; Neonatal Screening; Phenotype; Phenylalanine Hydroxylase; Phenylketonurias; Taiwan	2004
Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report. Movement disorders : official journal of the Movement Disorder Society, 2004, Volume: 19, Issue:5 Topics: Antiparkinson Agents; Arginine; Brain; Dystonia; Genes, Recessive; GTP Cyclohydrolase; Humans; Levodopa; Magnetic Resonance Imaging; Male; Middle Aged; Parkinsonian Disorders; Pedigree; Phenylketonurias; Point Mutation; Tomography, Emission-Computed; Tomography, Emission-Computed, Single-Photon	2004
Effects of an immune-enhancing diet in endotoxemic rats. Nutrition (Burbank, Los Angeles County, Calif.), 2005, Volume: 21, Issue:2 Topics: Analysis of Variance; Animals; Antioxidants; Arginine; Blood Glucose; Body Weight; Enteral Nutrition; Fatty Acids, Omega-3; Gastrostomy; Insulin; Lipopolysaccharides; Male; Muscle, Skeletal; Nitrogen; Peptides; Phenylketonurias; Random Allocation; Rats; Rats, Wistar; Shock, Septic	2005
The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene. Mutation research, 2006, Oct-10, Volume: 601, Issue:1-2 Topics: Alleles; Arginine; Chromatography, High Pressure Liquid; DNA Mutational Analysis; Exons; Gene Frequency; Humans; Mutation; Phenylalanine Hydroxylase; Phenylketonurias; Polymerase Chain Reaction; Polymorphism, Genetic; Turkey	2006
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. American journal of human genetics, 1993, Volume: 53, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Arginine; Base Sequence; Biopterins; Cysteine; DNA Mutational Analysis; DNA-Binding Proteins; Gene Expression Regulation, Enzymologic; Hepatocyte Nuclear Factor 1; Hepatocyte Nuclear Factor 1-alpha; Hepatocyte Nuclear Factor 1-beta; Humans; Hydro-Lyases; Infant; Male; Molecular Sequence Data; Nuclear Proteins; Pedigree; Phenylalanine; Phenylketonurias; Point Mutation; Transcription Factors	1993
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
Utilisation of amino acid mixtures in adolescents with phenylketonuria. European journal of pediatrics, 1996, Volume: 155 Suppl 1 Topics: Adolescent; Adult; Amino Acids; Arginine; Blood Glucose; Diet, Protein-Restricted; Dietary Proteins; Humans; Insulin; Lactic Acid; Leucine; Phenylketonurias	1996
Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation. European journal of pediatrics, 1991, Volume: 150, Issue:7 Topics: Adult; Arginine; Base Sequence; Female; Glutamine; Homozygote; Humans; Infant; Infant, Newborn; Male; Microcephaly; Molecular Sequence Data; Mothers; Mutation; Pedigree; Phenylalanine Hydroxylase; Phenylketonurias	1991
Circulating serum phenylalanine concentrations and the effect of arginine infusion on plasma levels of growth hormone and insulin in treated phenylketonuric children. Acta endocrinologica, 1987, Volume: 114, Issue:4 Topics: Adolescent; Arginine; Child; Child, Preschool; Female; Growth Hormone; Humans; Infant; Infusions, Intravenous; Insulin; Insulin-Like Growth Factor I; Male; Phenylalanine; Phenylketonurias	1987
Screening for biochemical abnormalities in the urine of the mentally handicapped in Dublin. Journal of mental deficiency research, 1972, Volume: 16, Issue:2 Topics: Adolescent; Adult; Amino Acids; Arginine; Child; Child, Preschool; Chromatography, Paper; Cystinuria; Female; Glycine; Glycosaminoglycans; Glycosuria; Homocystinuria; Hospitals, Psychiatric; Humans; Indoles; Infant; Intellectual Disability; Ireland; Lysine; Male; Metabolism, Inborn Errors; Phenylketonurias; Polysaccharides; Proteinuria; Succinates	1972
Pediatric clinical aspects of aminoacidopathies. Monographs in human genetics, 1972, Volume: 6 Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Female; Homocystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Male; Maple Syrup Urine Disease; Mass Screening; Phenylketonurias; Pregnancy; Sex Factors; Succinates; Urea	1972
[Hereditary amino acid metabolism disorders. Indications for early diagnosis]. Fortschritte der Medizin, 1972, Apr-13, Volume: 90, Issue:11 Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cystathionine; Cystinosis; Diagnosis, Differential; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Maple Syrup Urine Disease; Methods; Methylmalonic Acid; Phenylketonurias; Proline; Propionates; Tyrosine	1972
[Diagnosis of inborn amino acid metabolism errors. Important symptoms and laboratory methods]. Fortschritte der Medizin, 1972, Apr-13, Volume: 90, Issue:11 Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Clinical Laboratory Techniques; Cystathionine; Cystinosis; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Maple Syrup Urine Disease; Methods; Methylmalonic Acid; Phenylketonurias; Proline; Propionates; Tyrosine	1972
Saturation of blood brain barrier transport of amino acids in phenylketonuria. Archives of neurology, 1973, Volume: 28, Issue:1 Topics: Amino Acids; Animals; Arginine; Blood-Brain Barrier; Brain; Carbon Isotopes; Dihydroxyphenylalanine; Female; Histidine; Humans; Intellectual Disability; Isoleucine; Leucine; Lysine; Male; Methionine; Ornithine; Phenylalanine; Phenylketonurias; Rats; Threonine; Tryptophan; Tyrosine; Valine	1973
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
Comparison of amino acid concentrations between plasma and erythrocytes. Studies in normal human subjects and those with metabolic disorders. The Journal of laboratory and clinical medicine, 1971, Volume: 78, Issue:4 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Aspartic Acid; Biological Transport; Child; Chromatography, Ion Exchange; Cystine; Erythrocytes; Glutamates; Glutathione; Glycine; Histidine; Homocystine; Homocystinuria; Humans; Infant; Maple Syrup Urine Disease; Methionine; Ornithine; Phenylketonurias; Plasma; Renal Tubular Transport, Inborn Errors; Serine; Spectrophotometry; Threonine; Tyrosine	1971
Hereditary disorders of amino acid metabolism associated with mental deficiency. Annals of the New York Academy of Sciences, 1969, Sep-30, Volume: 166, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child, Preschool; Citrulline; Deficiency Diseases; Hartnup Disease; Homocystinuria; Humans; Intellectual Disability; Maple Syrup Urine Disease; Phenylketonurias; Succinates	1969
[Biochemical studies on inherited disorders of amino acid metabolism in pediatrics]. Zeitschrift fur klinische Chemie und klinische Biochemie, 1970, Sep-08, Volume: 7, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Chemistry, Clinical; Child; Child, Preschool; Chromatography, Paper; Cystine; Cystinosis; Cystinuria; Electrophoresis; Fanconi Syndrome; Feces; Histidine; Humans; Keto Acids; Lysine; Maple Syrup Urine Disease; Ornithine; Phenylketonurias	1970