proline and BH4 Deficiency

proline has been researched along with BH4 Deficiency in 23 studies

Research

Studies (23)

Timeframe	Studies, this research(%)	All Research%
pre-1990	20 (86.96)	18.7374
1990's	1 (4.35)	18.2507
2000's	1 (4.35)	29.6817
2010's	0 (0.00)	24.3611
2020's	1 (4.35)	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
EFRON, ML; MACCREADY, RA; MOSER, HW; YOUNG, D	1
Geladze, NM; Khachapuridze, NS; Mindadze, AB; Pulariani, TD	1
Milner, RD; Wirdnam, PK	1
Greco, GM; Magli, A	1
Desviat, LR; Pérez, B; Ugarte, M	1
Reavey, PC; Yadav, GC	1
Komrower, GM	1
Behbehani, AW; Neuhoff, V; Quentin, CD; Schulte, FJ	1
Ampola, MG	1
Kroll, S; Toussaint, W; Zebisch, P	2
Ampola, MG; Efron, ML	1
Alpers, DH; Thier, SO	1
Menne, F	1
Buravina, TA; Iur'eva, EA; Koroleva, IA; Lebedev, VP; Mukhina, IuG	1
Brown, DA; Turner, B	1
Andrews, WA; Cooke, JR; Mahon, DF; Raine, DN	1
Knoll, E; Scheibenreiter, S; Schmierer, G; Schön, R; Thalhammer, O	1
Raine, DN	1
Bunting, R; Diamond, S; Hansen, S; Perry, TL; Tischler, B; Weppler, VC	1
Fowler, B; Griffiths, MJ; Komrower, GM; Lambert, AM	1
Gjessing, LR; Seip, M; Vellan, EJ	1

Reviews

6 review(s) available for proline and BH4 Deficiency

Article	Year
[Eye manifestations of amino acid disorders]. Minerva pediatrica, 1978, May-31, Volume: 30, Issue:10 Topics: Alanine; Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Child; Cystinosis; Cystinuria; Eye Diseases; Eye Manifestations; Glycine; Hartnup Disease; Hepatolenticular Degeneration; Homocystinuria; Humans; Lysine; Oculocerebrorenal Syndrome; Oxidoreductases; Phenylketonurias; Proline; Pyruvates	1978
Phenylketonuria and other disorders of amino acid metabolism. Pediatric clinics of North America, 1973, Volume: 20, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Counseling; Cystathionine; Cystinosis; Cystinuria; Diet Therapy; Dietary Proteins; Family; Female; Hartnup Disease; Histidine; Homocystinuria; Humans; Hyperglycemia; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Ornithine; Phenylketonurias; Pregnancy; Proline; Tyrosine	1973
The aminoacidurias. Pediatric clinics of North America, 1967, Volume: 14, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Hydroxyproline; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Tyrosine	1967
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
[Primary and secondary hyperaminoaciduria in children (review of the literature)]. Voprosy okhrany materinstva i detstva, 1970, Volume: 15, Issue:11 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Biological Transport, Active; Cystinuria; Fanconi Syndrome; Glycine; Glycosuria, Renal; Hartnup Disease; Histidine; Humans; Infant, Newborn; Kidney Diseases; Kidney Tubules; Maple Syrup Urine Disease; Phenylketonurias; Proline; Renal Aminoacidurias; Renal Tubular Transport, Inborn Errors; Sodium	1970

Other Studies

17 other study(ies) available for proline 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
A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER. The New England journal of medicine, 1964, Jun-25, Volume: 270 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Chemical Analysis; Chromatography; Citrulline; Glycine; Histidine; Homocysteine; Humans; Hydroxyproline; Intellectual Disability; Maple Syrup Urine Disease; Metabolic Diseases; Phenylketonurias; Proline; Proteins; Renal Aminoacidurias; Urine	1964
[Peculiarities of epileptic syndrome in children with metabolic disorders of nervous system]. Georgian medical news, 2005, Issue:128 Topics: Brain; Child, Preschool; Electroencephalography; Epilepsy; Homocystinuria; Humans; Infant; Intellectual Disability; Metabolic Syndrome; Methylmalonic Acid; Phenylketonurias; Proline	2005
The pancreatic beta cell fraction in children with errors of amino acid metabolism. Pediatric research, 1982, Volume: 16, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Child; Cystinosis; Homocystinuria; Humans; Infant; Infant, Newborn; Islets of Langerhans; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Tyrosine	1982
A new PKU mutation associated with haplotype 12. Human molecular genetics, 1992, Volume: 1, Issue:9 Topics: Amino Acid Sequence; Base Sequence; Chromosomes, Human, Pair 12; Exons; Female; Haplotypes; Humans; Leucine; Male; Molecular Sequence Data; Oligodeoxyribonucleotides; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Polymorphism, Restriction Fragment Length; Proline	1992
Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital. Journal of inherited metabolic disease, 1988, Volume: 11, Issue:3 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Citrulline; Cystinuria; Female; Glycine; Homocystinuria; Humans; Infant; Infant, Newborn; Kuwait; Male; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Proline; Tyrosine	1988
The philosophy and practice of screening for inherited diseases. Pediatrics, 1974, Volume: 53, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Child; Child, Preschool; Chromatography, Paper; Chromosome Aberrations; Clinical Enzyme Tests; Costs and Cost Analysis; Down Syndrome; Female; Genetic Counseling; Genetic Diseases, Inborn; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Karyotyping; Male; Mass Screening; Phenylketonurias; Philosophy, Medical; Pregnancy; Prenatal Diagnosis; Proline; Sex Determination Analysis	1974
Microanalysis with 14C-dansyl chloride of amino acids and amines in the cerebrospinal fluid of patients with phenylketonuria. I. Analysis in untreated phenylketonuria. Neuropadiatrie, 1974, Volume: 5, Issue:2 Topics: 5-Hydroxytryptophan; Amines; Amino Acids; Autoradiography; Carbon Radioisotopes; Chlorides; Chromatography; Dansyl Compounds; Diet Therapy; Glycine; Histidine; Humans; Infant; Lysine; Male; Methods; Microchemistry; Phenylketonurias; Proline; Serotonin; Time Factors	1974
[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
Amino acid excretion in infancy and early childhood. A survey of 200,000 infants. The Medical journal of Australia, 1972, Jan-08, Volume: 1, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography; Cystathionine; Cystinuria; Glycine; Histidine; Humans; Infant; Lysine; Mass Screening; Phenylketonurias; Proline	1972
Screening for inherited metabolic disease by plasma chromatography (Scriver) in a large city. British medical journal, 1972, Jul-01, Volume: 3, Issue:5817 Topics: Amino Acid Metabolism, Inborn Errors; Blood Specimen Collection; Chromatography, Paper; Costs and Cost Analysis; Fasting; Food; Histidine; Humans; Hyperlipidemias; Infant, Newborn; Mass Screening; Methionine; Midwifery; Phenylalanine; Phenylketonurias; Postal Service; Proline; Time Factors; Tyrosine; United Kingdom	1972
[5 years of the Austrian program for the early detection of inborn errors of metabolism. Activity report]. Wiener klinische Wochenschrift, 1972, Volume: 84 Topics: Amino Acid Metabolism, Inborn Errors; Austria; Child, Preschool; Chromatography, Thin Layer; Diet Therapy; Economics, Medical; Follow-Up Studies; Galactosemias; Glycine; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Metal Metabolism, Inborn Errors; Multiphasic Screening; Phenylketonurias; Proline; Time Factors; Tyrosine	1972
Early detection of phenylketonuria and other aminoacidopathies in a large city using plasma chromatography. Archives of disease in childhood, 1971, Volume: 46, Issue:250 Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Histidine; Humans; Hyperlipidemias; Infant; Infant, Newborn; Mass Screening; Methionine; Phenylketonurias; Proline; Tyrosine	1971
Unrecognized maternal biochemical disease: an uncommon cause of mental retardation in children. Journal of mental deficiency research, 1970, Volume: 14, Issue:1 Topics: Child; Cystinuria; Female; Glycine; Humans; Infant, Newborn; Intellectual Disability; Lysine; Metabolic Diseases; Phenylalanine; Phenylketonurias; Pregnancy; Proline; Tyrosine	1970
A prospective community survey for aminoacidaemias. Proceedings of the Royal Society of Medicine, 1968, Volume: 61, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Specimen Collection; Chromatography; England; Female; Histidine; Humans; Infant, Newborn; Mass Screening; Phenylketonurias; Pregnancy; Proline	1968
Hair amino acids in cystinosis, homocystinuria, Fölling's disease and tyrosinosis. Acta paediatrica Scandinavica, 1969, Volume: 58, Issue:3 Topics: Amino Acids; Autoanalysis; Citrulline; Cystine; Cystinosis; Female; Hair; Homocysteine; Homocystinuria; Humans; In Vitro Techniques; Male; Metabolic Diseases; Methionine; Methods; Phenylalanine; Phenylketonurias; Proline; Tyrosine	1969