Page last updated: 2024-08-17

histidine and BH4 Deficiency

histidine has been researched along with BH4 Deficiency in 94 studies

Research

Studies (94)

Timeframe	Studies, this research(%)	All Research%
pre-1990	92 (97.87)	18.7374
1990's	1 (1.06)	18.2507
2000's	1 (1.06)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
CANBY, JP; HOWELL, RR; JACOBY, GA; LADU, BN; SEEGMILLER, JE; SOBER, EK; ZANNONI, VG; ZIEGLER, LK	1
GREISHEIMER, EM	1
SAMUELS, S	1
COFFEY, VP	1
EFRON, ML; MACCREADY, RA; MOSER, HW; YOUNG, D	1
Asano, Y; Suzuki, M; Tachibana, S	1
Abe, H; Furukawa, T; Sugita, K; Sugita, M	1
Benevenga, NJ; Steele, RD	1
Aoki, K; Arashima, S; Kawamura, M; Kitagawa, T; Oura, T; Sakai, K; Suwa, S; Tada, K; Takesada, M; Tateda, H	1
Ambrus, CM; Barren, E; Horvath, C; Kalghatgi, K; Karakousis, CP; Sharma, SD	1
Yasuda, N	1
Seleznev, IuV	1
Alm, J; Larsson, A; Rosenqvist, U	1
Mamunes, P	2
Knoll, E; Scheibenreiter, S; Schön, R; Thalhammer, O; Wehle, E	1
Alm, J; Larsson, A	1
Byrd, D; Olek, K; Wardenbach, P	1
Barasnĕv, J	1
Schmid-Rüter, E	2
Krüger, M; Menne, F; Otte, HJ; Winterhoff, D	2
Harper, PS	1
Hill, GN; Pollard, AC; Robertson, EF	1
Menne, F	2
Bridge, C; Fowler, B; Komrower, GM; Sardharwalla, IB	1
Brown, DA; Connelly, J; Francis, I; Hill, G; Masters, P; McFarlane, J; Pitt, D; Raby, J; Tucker, RG; Wilcken, B	1
Bickel, H	2
Davidow, B; Goldberg, D; Grossi, M; Grover, R; Shahidi, S; Wethers, D	1
Barashneva, SM; Rybakova, EP	1
Havelec, L; Knoll, E; Thalhammer, O; Wehle, E	2
Abrosimova, NA; Barashnev, IuI; Chicherin, LP; Dukarskiĭ, FG; Pesnia, VV	1
Bradley, DM	1
Méhes, K; Mogyar, M; Németh, E	1
Stern, J	1
Kanamori, K; Kawahara, N; Miura, T; Ohtake, H; Sakura, N; Tanabe, M; Yoshino, A	1
Belitskaia, TT; Nikolaeva, EA	1
Cady, EB; Gadian, DG; Gardiner, RM; Proctor, E; Williams, SR	1
Lutz, P	1
Chamove, AS; Harlow, HF; Kerr, GR	1
Komrower, GM	1
Holmgren, G	1
Brissaud, HE	1
Holmgren, G; Nordström, S; Thorburn, W	1
Perrone, L	1
Clayton, BE	1
Behbehani, AW; Neuhoff, V; Quentin, CD; Schulte, FJ	1
Bickel, H; Schmidt, H; Schürrle, L	1
Ampola, MG	1
Levy, HL	3
Kroll, S; Toussaint, W; Zebisch, P	2
Tomaszewski, L	1
Böhme, G; Theile, H	1
Oldendorf, WH	1
Kovács, J	1
Thalhammer, O	1
Bozkowa, K; Cabalska, MB	1
Gardner, RJ; Lyon, IC; Veale, AM	1
Ampola, MG; Efron, ML	1
Buravina, TA; Iur'eva, EA; Koroleva, IA; Lebedev, VP; Mukhina, IuG	1
Seegmiller, JE	1
Rostenberg, A; Solomon, LM	1
Brown, DA; Turner, B	1
Lavinha, F; Lowenthal, A; Mardens, Y; Van Regemorter, N; Van Sande, M	1
Andrews, WA; Cooke, JR; Mahon, DF; Raine, DN	1
Scheiber, V; Thalhammer, O	1
Knoll, E; Scheibenreiter, S; Schmierer, G; Schön, R; Thalhammer, O	1
Menkes, JH	1
Barkin, E; Levy, HL	1
Raine, DN	1
Steuer, W	1
Sietti, C	1
Adriaenssens, K; Allen, RJ; Lowenthal, A; Mardens, Y; Tourtellotte, WW	1
Holton, JB; Small, NA	1
McKean, CM; Peterson, NA	1
Holmgren, G; Jeppson, JO; Samuelson, G	1
Antener, I	1
Biedl, E; Scheibenreiter, S; Thalhammer, O	1
Beauvais, P; Dreyfus, J; Humbel, R; Klein, F	1
Giovannini, M	1
Fowler, B; Griffiths, MJ; Komrower, GM; Lambert, AM	1
Bauer, B	1
Rogers, S	1
Coward, RF; Seakins, JW; Smith, P	1

Reviews

12 review(s) available for histidine and BH4 Deficiency

Article	Year
Adverse effects of excessive consumption of amino acids. Annual review of nutrition, 1984, Volume: 4 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain; Cattle; Diet; Disease Models, Animal; Ethionine; Fenclonine; Glycine; Growth Disorders; Histidine; Humans; Methionine; Nerve Tissue Proteins; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pneumonia, Atypical Interstitial, of Cattle; Serine; Stereoisomerism; Sulfhydryl Compounds; Tissue Distribution; Tryptophan; Tyrosine; Vitamin A	1984
Neonatal screening tests. Pediatric clinics of North America, 1980, Volume: 27, Issue:4 Topics: Adenosine Deaminase; Anemia, Sickle Cell; Biological Assay; Costs and Cost Analysis; Galactosemias; Histidine; Homocystinuria; Humans; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Tyrosine; United States	1980
Mendelian inheritance or transmissible agent? The lesson Kuru and the Australia antigen. Journal of medical genetics, 1977, Volume: 14, Issue:6 Topics: Alzheimer Disease; Animals; Chromosome Aberrations; Chromosome Disorders; Creutzfeldt-Jakob Syndrome; Erythroblastosis, Fetal; Female; Genes, Dominant; Genetic Diseases, Inborn; Haplorhini; Hepatitis B; Hepatitis B Surface Antigens; Histidine; Humans; Huntington Disease; Infant, Newborn; Kuru; Liver Diseases; Male; Maternal-Fetal Exchange; Mice; Myotonia Congenita; Nephritis, Hereditary; Optic Atrophy; Phenylketonurias; Pregnancy; Scrapie; Sheep; Slow Virus Diseases	1977
Newborn screening for metabolic disorders. Clinics in perinatology, 1976, Volume: 3, Issue:1 Topics: Chromatography, Paper; Congenital Hypothyroidism; Cost-Benefit Analysis; Costs and Cost Analysis; Female; Fluorometry; Galactosemias; Histidine; Humans; Hypothyroidism; Infant, Newborn; Infant, Newborn, Diseases; Metabolism, Inborn Errors; Phenylketonurias; Pregnancy; Time Factors; United States; UTP-Hexose-1-Phosphate Uridylyltransferase	1976
Dietary treatment of inborn errors of amino acid and carbohydrate metabolism. Bibliotheca nutritio et dieta, 1973, Issue:18 Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Child; Child Development; Child Nutritional Physiological Phenomena; Child, Preschool; Cystinosis; Diet Therapy; Galactose; Glucose; Histidine; Homocystinuria; Humans; Infant; Infant Nutrition Disorders; Infant, Newborn; Lactose Intolerance; Malabsorption Syndromes; Maple Syrup Urine Disease; Phenylketonurias; Sucrose; Tyrosine	1973
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
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
Neonatal screening for inborn errors of amino acid metabolism. Clinics in endocrinology and metabolism, 1974, Volume: 3, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Biological Assay; Chromatography, Paper; Evaluation Studies as Topic; Female; Hartnup Disease; Histidine; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Mass Screening; Methionine; Methods; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine	1974
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
[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
Genetic and molecular basis of human hereditary diseases. Clinical chemistry, 1967, Volume: 13, Issue:7 Topics: Amino Acid Metabolism, Inborn Errors; Arthritis; Brain Diseases; Genetic Diseases, Inborn; Glycogen Storage Disease; Gout; Histidine; Humans; Metabolism, Inborn Errors; Mutation; Nutrition Disorders; Phenylketonurias; Tyrosine	1967

Other Studies

82 other study(ies) available for histidine and BH4 Deficiency

Article	Year
CLINICAL AND BIOCHEMICAL STUDIES ON TWO CASES OF HISTIDINEMIA. Pediatrics, 1963, Volume: 32 Topics: Amino Acid Metabolism, Inborn Errors; Blood Chemical Analysis; Child; Deficiency Diseases; Diagnosis, Differential; Genetics; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability; Liver; Metabolic Diseases; Phenylketonurias; Spectrophotometry; Speech Disorders; Urine	1963
PROGRESS IN PHYSIOLOGY. Journal of the American Medical Women's Association, 1963, Volume: 18 Topics: Blood; Epoetin Alfa; Erythropoietin; Histidine; Musculoskeletal System; Phenylketonurias; Physiology; Proteins; Pulmonary Circulation; Thymus Gland	1963
HIGH-RESOLUTION SCREENING OF AMINO-ACIDURIAS. Archives of neurology, 1964, Volume: 10 Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Electrophoresis; Histidine; Humans; Indicators and Reagents; Lead Poisoning; Maple Syrup Urine Disease; Mass Screening; Metabolic Diseases; Phenylketonurias; Renal Aminoacidurias; Urine	1964
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
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
Application of an enzyme chip to the microquantification of l-phenylalanine. Analytical biochemistry, 2006, Dec-01, Volume: 359, Issue:1 Topics: Amino Acid Oxidoreductases; Blood Stains; Histidine; Humans; Infant, Newborn; Microchemistry; Neonatal Screening; Phenylalanine; Phenylketonurias; Protein Array Analysis; Reproducibility of Results; Sensitivity and Specificity	2006
Studies on the transport mechanism of aminoacids in the renal tubules. I. Studies on the mechanism of aminoaciduria from the analytical standpoint of titration curve. Japanese circulation journal, 1967, Volume: 31, Issue:3 Topics: Adult; Amino Acids; Biological Transport; Chromatography, Paper; Chronic Disease; Female; Histidine; Humans; Infusions, Parenteral; Kidney Tubules; Male; Nephritis; Phenylalanine; Phenylketonurias; Renal Aminoacidurias; Spectrophotometry	1967
Follow-up study of a nation-wide neonatal metabolic screening program in Japan. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan. European journal of pediatrics, 1984, Volume: 142, Issue:3 Topics: Biopterins; Female; Follow-Up Studies; Galactosemias; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Intelligence; Japan; Male; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias	1984
Determination of aromatic amino acids by ion-pair reversed-phase liquid chromatography in human sera from healthy and phenylketonuric individuals. Research communications in chemical pathology and pharmacology, 1984, Volume: 45, Issue:2 Topics: Amino Acids; Chromatography, Liquid; Histidine; Humans; Phenylalanine; Phenylketonurias; Tryptophan; Tyrosine	1984
Geographical variations in inborn errors of metabolism in Japan. Human heredity, 1984, Volume: 34, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Galactosemias; Histidine; Humans; Japan; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Phenylketonurias	1984
[Thiophosphamide sensitivity of lymphocyte chromosomes of children with hereditary amino acid metabolic diseases]. Genetika, 1981, Volume: 17, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromosomes, Human; Histidine; Humans; Lymphocytes; Phenylketonurias; Psychomotor Disorders; Thiotepa	1981
Health economic analysis of the Swedish neonatal metabolic screening programme. A method of optimizing routines. Medical decision making : an international journal of the Society for Medical Decision Making, 1982, Volume: 2, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Cost-Benefit Analysis; Galactosemias; Histidine; Homocystinuria; Humans; Infant, Newborn; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Sweden; Tyrosine	1982
[12 years Austrian newborn screening for inborn errors of metabolism. Results with special reference to phenylketonuria, hyperphenylalaninemia and histidinemia (author's transl)]. Klinische Padiatrie, 1980, Volume: 192, Issue:6 Topics: Austria; Female; Histidine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Male; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Psychometrics	1980
Evaluation of a nation-wide neonatal metabolic screening programme in Sweden 1965-1979. Acta paediatrica Scandinavica, 1981, Volume: 70, Issue:5 Topics: Evaluation Studies as Topic; Galactosemias; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Sweden; Tyrosine	1981
[Excretion of transamination products in hyperphenylalaninemia (author's transl)]. Klinische Wochenschrift, 1980, Feb-01, Volume: 58, Issue:3 Topics: Adult; Biogenic Amines; Female; Histidine; Humans; Intellectual Disability; Middle Aged; Phenylalanine; Phenylketonurias; Transaminases; Tryptophan	1980
[Enzyme activity and the character of metabolic changes in brain tissue in children with phenylketonuria and histidinemia]. Ceskoslovenska pediatrie, 1980, Volume: 35, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Brain; Child; Child, Preschool; Histidine; Humans; Infant; Liver; Phenylketonurias	1980
[Early diagnosis of hereditary metabolic diseases in the newborn by means of microbiological Guthrie tests]. Fortschritte der Medizin, 1978, Jun-22, Volume: 96, Issue:24 Topics: Bacillus subtilis; Galactosemias; Germany, West; Histidine; Homocystinuria; Humans; Infant, Newborn; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Microbiological Techniques; Phenylketonurias	1978
[Screening of the Westphalia-Lippe newborns of 1977 for phenylketonuria, histidinemia, homocystinuria and maple syrup disease. Furthermore a pilot study of galactosemia and galactokinase deficiency disease]. MMW, Munchener medizinische Wochenschrift, 1979, Jun-22, Volume: 121, Issue:25 Topics: Galactokinase; Galactosemias; Germany, West; Histidine; Homocystinuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Maple Syrup Urine Disease; Mass Screening; Metabolic Diseases; Phenylketonurias	1979
[Screening newborn infants for phenylketonuria, histadinemia, homocystinuria and maple syrup disease. Results from north rhein-westphalia (1974-1976) (author's transl]. MMW, Munchener medizinische Wochenschrift, 1978, May-05, Volume: 120, Issue:18 Topics: Amino Acid Metabolism, Inborn Errors; Germany, West; Histidine; Homocystinuria; Humans; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Phenylketonurias; Retrospective Studies	1978
Evaluation of a state-wide neonatal screening programme. The Medical journal of Australia, 1979, May-05, Volume: 1, Issue:9 Topics: alpha 1-Antitrypsin Deficiency; Amino Acid Metabolism, Inborn Errors; Australia; Evaluation Studies as Topic; Follow-Up Studies; Galactosemias; Histidine; Humans; Hypothyroidism; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Tyrosine	1979
[Screening and therapy of 6 metabolic diseases of hereditary nature which are possible causes of mental retardation: screening of 1,900,000 newborn infants since the year 1965]. La Clinica terapeutica, 1979, Mar-15, Volume: 88, Issue:5 Topics: Galactosemias; Germany, West; Histidine; Homocystinuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias	1979
The Manchester regional screening programme: a 10-year exercise in patient and family care. British medical journal, 1979, Sep-15, Volume: 2, Issue:6191 Topics: Child; Child, Preschool; Communication; Community Health Nursing; Costs and Cost Analysis; England; Female; Histidine; Homocystinuria; Humans; Infant; Laboratories; Male; Mass Screening; Metabolism, Inborn Errors; Nurses; Phenylketonurias	1979
Genetic screening of the newborn in Australia. Results for 1978. The Medical journal of Australia, 1979, Sep-08, Volume: 2, Issue:5 Topics: Australia; Blood Stains; Congenital Hypothyroidism; Cystinuria; Female; Fetal Blood; Genetic Testing; Histidine; Homocystinuria; Humans; Hypothyroidism; Infant, Newborn; Infant, Newborn, Diseases; Male; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias	1979
Dietary restriction in inborn errors of amino acid metabolism. Current concepts in nutrition, 1979, Volume: 8 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cystinosis; Food, Formulated; Histidine; Homocystinuria; Humans; Infant; Infant Food; Infant, Newborn; Intelligence; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Tyrosine	1979
Evaluation of the expanded newborn screening program in New York City. Pediatrics, 1978, Volume: 61, Issue:5 Topics: Adenosine Deaminase; Anemia, Sickle Cell; Costs and Cost Analysis; Counseling; Galactosemias; Hemoglobinopathies; Histidine; Homocystinuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Legislation, Medical; Mass Screening; Metabolic Diseases; New York; New York City; Organization and Administration; Phenylketonurias	1978
[Practical experience in organization and use of diet therapy for children with hereditary enzymopathies]. Pediatriia, 1977, Issue:7 Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Histidine; Homocystinuria; Humans; Infant; Phenylketonurias	1977
Intellectual level (IQ) in heterozygotes for phenylketonuria (PKU). Is the PKU gene also acting by means other than phenylalanine-blood level elevation? Human genetics, 1977, Oct-14, Volume: 38, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Female; Heterozygote; Histidine; Humans; Intelligence; Intelligence Tests; Male; Phenylalanine; Phenylketonurias	1977
[The IQ of heterozygotes for phenylketonuria (PKU). indication of a blood phenylalanine-independent action of the PKU mutant (author's transl)]. Wiener klinische Wochenschrift, 1977, Oct-28, Volume: 89, Issue:20 Topics: Adult; Child; Female; Heterozygote; Histidine; Humans; Intelligence; Male; Mutation; Phenylalanine; Phenylketonurias; Wechsler Scales	1977
American Academy of Pediatrics. Committee on Nutrition: special diets for infants with inborn errors of amino acid metabolism. Pediatrics, 1976, Volume: 57, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cysteine; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Nutritional Requirements; Phenylalanine; Phenylketonurias; Risk; Tyrosine; Valine	1976
[Methods and results of screening newborn infants for aminoacidopathies]. Monatsschrift fur Kinderheilkunde, 1976, Volume: 129, Issue:9 Topics: Amino Acid Metabolism, Inborn Errors; Europe; Galactosemias; Germany, West; Histidine; Homocystinuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Maple Syrup Urine Disease; Mass Screening; Phenylketonurias	1976
Results of the examination of newborn infants for phenylketonuria and histidinemia in Moscow. Pediatriia, 1975, Issue:5 Topics: Child Health Services; Female; Histidine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Moscow; Phenylalanine; Phenylketonurias	1975
Screening for inherited metabolic disease in Wales using urine-impregnated filter paper. Archives of disease in childhood, 1975, Volume: 50, Issue:4 Topics: Alkaptonuria; Chromatography, Paper; Cystinuria; Diabetes Mellitus; Filtration; Glycosuria; Histidine; Homocystinuria; Humans; Infant, Newborn; Mass Screening; Metabolism, Inborn Errors; Paper; Phenylketonurias; Proteinuria; Wales	1975
[Biochemical and genetic screening of newborn infants]. Orvosi hetilap, 1975, Aug-24, Volume: 116, Issue:34 Topics: Blood Glucose; Chromatography, Thin Layer; Cystinuria; Histidine; Humans; Hungary; Infant, Newborn; Mass Screening; Phenylketonurias; Urine	1975
Biochemistry of mental retardation. Proceedings of the Royal Society of Medicine, 1975, Volume: 68, Issue:9 Topics: Aged; Citrulline; Female; Glycine; Histidine; Humans; Infant; Infant, Newborn; Intellectual Disability; Metabolism, Inborn Errors; Phenylketonurias	1975
Frequency of inborn errors of metabolism, especially PKU, in some representative newborn screening centers around the world: a collaborative study. Humangenetik, 1975, Dec-23, Volume: 30, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinic Acid; Australia; Cystinuria; Ethnicity; Europe; Galactosemias; Genetics, Population; Hartnup Disease; Histidine; Homocystinuria; Humans; Inbreeding; Infant, Newborn; Israel; Japan; Maple Syrup Urine Disease; Mass Screening; New Zealand; North America; Phenylketonurias; Tyrosine	1975
False positive result of Guthrie inhibition assay for histidinaemia in a patient with phenylketonuria. Journal of inherited metabolic disease, 1990, Volume: 13, Issue:2 Topics: Amino Acids; Biological Assay; False Positive Reactions; Food, Formulated; Histidine; Humans; Infant, Newborn; Male; Phenylalanine; Phenylketonurias	1990
[Hereditary diseases related to disorders of amino acid metabolism]. Meditsinskaia sestra, 1988, Volume: 47, Issue:10 Topics: Amino Acid Metabolism, Inborn Errors; Combined Modality Therapy; Histidine; Humans; Phenylketonurias	1988
Neurometabolic effects of an inborn error of amino acid metabolism demonstrated in vivo by 1H NMR. Magnetic resonance in medicine, 1986, Volume: 3, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Brain Chemistry; Female; Histidine; Humans; Magnetic Resonance Spectroscopy; Male; Mice; Mice, Mutant Strains; Phenylalanine; Phenylketonurias; Spectrum Analysis	1986
[Diagnostic methods for the detection of amino acid metabolism disorders]. Monatsschrift fur Kinderheilkunde, 1973, Volume: 121, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Bacillus subtilis; Blood Protein Electrophoresis; Chemistry, Clinical; Chromatography; Clinical Enzyme Tests; Colorimetry; Fluorometry; Histidine; Humans; Leucine; Mass Screening; Metabolic Diseases; Methionine; Methods; Microbial Sensitivity Tests; Organization and Administration; Phenylalanine; Phenylketonurias; Tyrosine	1973
Learning in monkeys fed elevated amino acid diets. Journal of medical primatology, 1973, Volume: 2, Issue:3 Topics: Alanine; Amino Acids; Animals; Diet; Discrimination Learning; Female; Food; Glycine; Haplorhini; Histidine; Humans; Learning; Macaca; Monkey Diseases; Phenylalanine; Phenylketonurias; Pregnancy; Problem Solving; Reward; Tryptophan; Tyrosine	1973
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
Urinary metabolic screening of mentally retarded patients from institutions in the northern part of Sweden. Human heredity, 1973, Volume: 23, Issue:6 Topics: Abnormalities, Multiple; Adolescent; Adult; Amino Acids; Child; Eye Diseases; Female; Glycine; Glycosaminoglycans; Histidine; Homocystinuria; Humans; Intellectual Disability; Lysine; Male; Mass Screening; Phenylketonurias; Renal Aminoacidurias; Sweden; Syndrome	1973
[Dietetics of amino acid metabolism disorders]. La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris, 1971, Feb-08, Volume: 47, Issue:7 Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Glycine; Histidine; Homocystinuria; Humans; Isoleucine; Leucine; Phenylketonurias; Tryptophan; Tyrosine; Valine	1971
Urinary metabolic studies in hereditary macular degeneration. Acta ophthalmologica, 1974, Volume: 52, Issue:2 Topics: Albuminuria; Amino Acids; Carbohydrates; Cystinuria; Electrophoresis, Paper; Female; Glycosuria; Histidine; Humans; Keto Acids; Male; Pedigree; Phenylketonurias; Retinal Degeneration; Syndrome; Tyrosine	1974
[Diet therapy of some inborn errors of metabolism]. La Pediatria, 1974, Sep-30, Volume: 82, Issue:2 Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Celiac Disease; Child; Child, Preschool; Histidine; Humans; Hypoglycemia; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Lactose Intolerance; Leucine; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methionine; Phenylketonurias; Proteins; Tyrosine	1974
Problems affecting the community. Population screening. Journal of clinical pathology. Supplement (Royal College of Pathologists), 1974, Volume: 8 Topics: Cystic Fibrosis; Galactosemias; Genetic Testing; Histidine; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Phenylketonurias; Tay-Sachs Disease; United Kingdom	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
[The inborn errors of metabolism of amino acids]. Postepy biochemii, 1973, Volume: 19, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chemical Phenomena; Chemistry; Cystinuria; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Sarcosine; Tyrosine; Valine	1973
[Blood histidine and phenylketonuria from the standpoint of the speech therapist]. Folia phoniatrica, 1973, Volume: 25, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Diet Therapy; Histidine; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Speech Disorders; Time Factors	1973
[Screening results for inborn errors of metabolism in Western Europe]. Monatsschrift fur Kinderheilkunde, 1973, Volume: 121, Issue:5 Topics: Denmark; Europe; Evaluation Studies as Topic; France; Galactosemias; Germany, West; Histidine; Homocystinuria; Humans; Infant, Newborn; International Cooperation; Ireland; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Netherlands; Phenylketonurias; Preventive Medicine; Switzerland; Tyrosine; United Kingdom	1973
Collective results of mass screening for inborn metabolic errors in eight European countries. Acta paediatrica Scandinavica, 1973, Volume: 62, Issue:4 Topics: Belgium; Denmark; France; Galactosemias; Germany, West; Histidine; Homocystinuria; Humans; Infant, Newborn; Ireland; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Netherlands; Phenylketonurias; Switzerland; Tyrosine; United Kingdom	1973
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
Ion-exchange thin-layer chromatographic screening test for phenylketonuria and other aminoacidaemias. Acta paediatrica Academiae Scientiarum Hungaricae, 1973, Volume: 14, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Ion Exchange; Chromatography, Thin Layer; Histidine; Humans; Infant; Lysine; Male; Mass Screening; Methods; Phenylalanine; Phenylketonurias; Tyrosine	1973
Austria newborn screening programme for inborn errors of metabolism. Acta Universitatis Carolinae. Medica. Monographia, 1973, Volume: 56 Topics: Austria; Female; Galactosemias; Histidine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Sex Factors	1973
Letter: Frequency of some metabolic disorders in Poland. Acta paediatrica Scandinavica, 1974, Volume: 63, Issue:3 Topics: Biological Assay; Galactosemias; Histidine; Humans; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias; Poland; Tyrosine	1974
Maternal histidinaemia. Archives of disease in childhood, 1974, Volume: 49, Issue:7 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Histidine; Humans; Intellectual Disability; Intelligence Tests; Male; Phenylketonurias; Pregnancy; Psychological Tests	1974
Infantile eczema and systemic disease. Archives of dermatology, 1968, Volume: 98, Issue:1 Topics: Acrodermatitis; Agammaglobulinemia; Ataxia Telangiectasia; Child; Dermatitis, Atopic; Eczema; Gastrointestinal Diseases; Glutens; Hartnup Disease; Histidine; Humans; Infant; Lymphatic Diseases; Mucopolysaccharidoses; Phenylketonurias; Wiskott-Aldrich Syndrome	1968
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
[Distribution of two peptides of -aminobutyric acid in human brain and CSF]. Clinica chimica acta; international journal of clinical chemistry, 1972, Volume: 38, Issue:1 Topics: Adolescent; Adult; Aged; Aging; Aminobutyrates; Brain Chemistry; Cerebral Cortex; Child; Child, Preschool; Chromatography, Ion Exchange; Dipeptides; Histidine; Humans; Infant; Lysine; Middle Aged; Parkinson Disease; Phenylketonurias	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
[Studies on the frequencies of inborn errors of metabolism in Eastern and Western Austria]. Humangenetik, 1972, Volume: 15, Issue:2 Topics: Austria; Chromatography; Clinical Enzyme Tests; Galactosemias; Gene Frequency; Genetics, Population; Histidine; Humans; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Probability	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
Disorders of amino acid metabolism--1971. California medicine, 1971, Volume: 115, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Histidine; Homocystinuria; Humans; Maple Syrup Urine Disease; Phenylketonurias; Urea	1971
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
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
[Early diagnosis of congenital metabolic diseases]. Minerva medica, 1971, Nov-03, Volume: 62, Issue:83 Topics: Diet Therapy; Galactosemias; Histidine; Homocystinuria; Humans; Hyperglycemia; Infant, Newborn; Leucine; Lipoproteins; Lysine; Metabolism, Inborn Errors; Phenylketonurias; Time Factors; Valine	1971
[Paper chromatography in the detection of aminoacidopathies]. Minerva pediatrica, 1971, Dec-22, Volume: 23, Issue:51 Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Paper; Glycine; Histidine; Humans; Maple Syrup Urine Disease; Phenylketonurias; Valine	1971
Brain and cerebrospinal fluid free amino acids in phenylketonuria. Journal de genetique humaine, 1969, Volume: 17, Issue:3 Topics: Amino Acids; Autopsy; Brain Chemistry; Chromatography, Ion Exchange; Chromatography, Paper; Dipeptides; Histidine; Humans; Phenylalanine; Phenylketonurias	1969
Determination of platelet serotonin by a fluorimetric method. Clinica chimica acta; international journal of clinical chemistry, 1970, Volume: 27, Issue:1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Blood Platelets; Child; Child, Preschool; Female; Fluorometry; Histidine; Humans; Infant; Male; Methods; Phenylalanine; Phenylketonurias; Serotonin	1970
Glutamine in the phenylketonuric central nervous system. The New England journal of medicine, 1970, Dec-17, Volume: 283, Issue:25 Topics: Adolescent; Adult; Amino Acids; Biological Transport, Active; Brain; Brain Chemistry; Child; Female; Glutamine; Histidine; Humans; Intellectual Disability; Intelligence Tests; Male; Middle Aged; Phenylketonurias; Serine; Threonine; Tyrosine	1970
High-voltage electrophoresis in urinary amino acid screening. Scandinavian journal of clinical and laboratory investigation, 1970, Volume: 26, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ampicillin; Chromatography; Cystinuria; Electrophoresis; Glycine; Histidine; Homocystinuria; Humans; Hydrogen-Ion Concentration; Mass Screening; Methods; Phenylketonurias; Renal Aminoacidurias	1970
[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
[Austrian programm for the early detection of inborn errors of metabolism]. Wiener klinische Wochenschrift, 1970, Jan-02, Volume: 82, Issue:1 Topics: Austria; Child, Preschool; Female; Galactosemias; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Male; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias	1970
[Clinical and biochemical study of a case of histidinemia]. Archives francaises de pediatrie, 1971, Volume: 28, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Chromatography; Diagnosis, Differential; Female; Histidine; Humans; Infant; Infant, Newborn; Pedigree; Phenylketonurias; Skin	1971
[Current views on therapy of some dysmetabolic oligophrenias]. Minerva pediatrica, 1967, Dec-22, Volume: 19, Issue:51 Topics: Child, Preschool; Diet Therapy; Galactosemias; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Intellectual Disability; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Phenylketonurias; Tyrosine	1967
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
[Early recognition of congenital metabolic disorders]. Hippokrates, 1968, Feb-15, Volume: 39, Issue:3 Topics: Galactosemias; Histidine; Humans; Infant, Newborn; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Phenylketonurias	1968
Significance of dialysis against enzymes to the specific therapy of cancer and genetic deficiency diseases. Nature, 1968, Dec-28, Volume: 220, Issue:5174 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Arginase; Dialysis; Histidine; Humans; Kidneys, Artificial; Metabolism, Inborn Errors; Neoplasms; Phenylketonurias; Rabbits	1968
Investigation of ketoacidurias by two-dimensional paper chromatography. Journal of clinical pathology, 1969, Volume: 22, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Paper; Diet; Female; Histidine; Humans; Infant; Keto Acids; Male; Phenylketonurias; Phenylpyruvic Acids; Tyrosine	1969