Page last updated: 2024-08-17

histidine and Inborn Errors of Metabolism

histidine has been researched along with Inborn Errors of Metabolism in 60 studies

Research

Studies (60)

Timeframe	Studies, this research(%)	All Research%
pre-1990	52 (86.67)	18.7374
1990's	4 (6.67)	18.2507
2000's	3 (5.00)	29.6817
2010's	1 (1.67)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Antonopoulos, C; Colman, RF; Currier, J; De Zoysa Ariyananda, L	1
ARAKAWA, T; HAYASHI, T; KUDO, Z; MIZUNO, T; OHARA, K; TADA, K	1
Fingerhut, A; Greenlee, C; Janssen, OE; Knuedeler, SD; Moeller, LC; Refetoff, S; Reutrakul, S	1
Hoffmann, G; Loeffen, J; Smeets, R; Smeitink, J; Voit, T	1
Eyre, DR; Gallop, PM; Paz, MA	1
Aoki, K; Arashima, S; Kawamura, M; Kitagawa, T; Oura, T; Sakai, K; Suwa, S; Tada, K; Takesada, M; Tateda, H	1
Yasuda, N	1
Anakura, M	1
Alm, J; Larsson, A; Rosenqvist, U	1
Mamunes, P	2
Scriver, CR	1
Knoll, E; Scheibenreiter, S; Schön, R; Thalhammer, O; Wehle, E	1
Alm, J; Larsson, A	1
Kagawa, S; Matsumori, Y; Matsuoka, A; Mimura, K; Murakoso, K; Otsuka, N; Sato, Y; Sumi, K	1
de Jong, JG; Engelke, U; Gabreëls, FJ; Heerschap, A; Wendel, U; Wevers, RA	1
Mitchell, GA; Miziorko, HM; Roberts, JR	1
Freisinger, P; Hässler, A; Pontz, BF; Staudt, M; Wermuth, B	1
Fowler, B	1
Schmid-Rüter, E	2
Enzenauer, J; Matz, D; Menne, F	1
Bremer, HJ; Przyrembel, H	1
Hill, GN; Pollard, AC; Robertson, EF	1
Bulfield, G	1
Menne, F	1
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
Bradley, DM	1
Stern, J	1
Lanza, I	1
Abe, N; Arita, K; Kamada, K; Kikuchi, K; Kinouchi, A; Miki, M; Nishino, M; Takarada, T	1
Gjessing, LR; Lunde, HA; Sjaastad, O	1
Ota, DM	1
Perrone, L	1
Streiff, RR	1
Clayton, BE	1
Arakawa, T	1
Hill, HD; Newton, DA; Salameh, K; Summer, GK	1
Arakawa, T; Honda, Y; Yoshida, T	1
Harrod, EK; Housler, ME; Lindmark, DG; Mosovich, L; Murphey, WH; Patchen, LI	1
Thalhammer, O	2
Seegmiller, JE	1
Scheiber, V; Thalhammer, O	1
Knoll, E; Scheibenreiter, S; Schmierer, G; Schön, R; Thalhammer, O	1
Steuer, W	1
Berry, HK; Bruckman, C; Dasenbrock, RJ	1
Carton, D; De Schrijver, F; Delbeke, MJ; Dhondt, F; Hooft, C; Kint, J; Samyn, W	1
Helger, R; Kraffczyk, F; Lang, H	1
Yoshida, A	1
Biedl, E; Scheibenreiter, S; Thalhammer, O	1
Giovannini, M	1
Arakawa, T; Mochizuki, K; Narisawa, K; Tada, K; Tamura, T	1
Bauer, B	1
Rogers, S	1
Boisse, J; Lemonnier, A; Lévy, H	1
Attal, C; Boisse, J; Lemonnier, A; Lévy, H; Mozziconacci, P	1
Brodehl, J; Hagge, W	1

Reviews

8 review(s) available for histidine and Inborn Errors of Metabolism

Article	Year
Cross-linking in collagen and elastin. Annual review of biochemistry, 1984, Volume: 53 Topics: 2-Aminoadipic Acid; Animals; Basement Membrane; Cells, Cultured; Chemical Phenomena; Chemistry; Collagen; Connective Tissue Diseases; Cross-Linking Reagents; Elastin; Histidine; Humans; Metabolism, Inborn Errors; Models, Molecular; Protein-Lysine 6-Oxidase; Pyridines; Rats	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
Garrod's legacy to the nations of mice and men. Progress in clinical and biological research, 1981, Volume: 45 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Biological Transport; Cell Membrane; Disease Models, Animal; Histidine; Humans; Hypophosphatemia, Familial; Metabolism, Inborn Errors; Mice; Mice, Mutant Strains; Ornithine Carbamoyltransferase Deficiency Disease; Phosphates; Proline Oxidase	1981
The folate cycle and disease in humans. Kidney international. Supplement, 2001, Volume: 78 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; 5,10-Methylenetetrahydrofolate Reductase (FADH2); Aminohydrolases; Biological Transport, Active; Folic Acid; Formate-Tetrahydrofolate Ligase; Histidine; Homeostasis; Homocysteine; Humans; Intestinal Mucosa; Kidney Diseases; Metabolism, Inborn Errors; Methylenetetrahydrofolate Dehydrogenase (NADP); Methylenetetrahydrofolate Reductase (NADPH2); Multienzyme Complexes; Oxidoreductases; Polyglutamic Acid; Purine Nucleotides; Serine; Tetrahydrofolates	2001
Nutrition and animal models of inherited metabolic disease. The Proceedings of the Nutrition Society, 1977, Volume: 36, Issue:1 Topics: Acatalasia; Amino Acid Metabolism, Inborn Errors; Anemia; Animals; Diabetes Mellitus; Disease Models, Animal; Enzymes; Female; Glycogen Storage Disease Type VIII; Histidine; Humans; Hyperlipidemias; Metabolism, Inborn Errors; Mice; Mutation; Nervous System Diseases; Nutritional Physiological Phenomena; Obesity; Parabiosis; Pregnancy; Syndrome	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
[Disorders of folate metabolism--primary and secondary metabolic disorders]. Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1972, Volume: 17, Issue:3 Topics: Animals; Child; DNA; Folic Acid; Folic Acid Deficiency; Formamides; Histidine; Humans; Liver; Metabolism, Inborn Errors; Phenytoin; Purines; Rats; Riboflavin Deficiency; RNA; Transferases	1972
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

52 other study(ies) available for histidine and Inborn Errors of Metabolism

Article	Year
In vitro hybridization and separation of hybrids of human adenylosuccinate lyase from wild-type and disease-associated mutant enzymes. Biochemistry, 2011, Mar-01, Volume: 50, Issue:8 Topics: Adenylosuccinate Lyase; Amino Acid Sequence; Aminoimidazole Carboxamide; Area Under Curve; Electrophoresis, Polyacrylamide Gel; Enzyme Stability; Histidine; Humans; Kinetics; Metabolism, Inborn Errors; Models, Molecular; Molecular Sequence Data; Mutagenesis, Site-Directed; Mutant Proteins; Mutation; Protein Conformation; Protein Denaturation; Protein Engineering; Protein Renaturation; Recombinant Fusion Proteins; Ribonucleotides; Succinic Acid; Temperature	2011
"HYPERFOLIC-ACIDEMIA WITH FORMIMINOGLUTAMIC-ACIDURIA FOLLOWING HISTIDINE LOADING". SUGGESTED FOR A CASE OF CONGENITAL DEFICIENCY IN FORMIMINOTRANSFERASE. The Tohoku journal of experimental medicine, 1963, Sep-25, Volume: 80 Topics: Blood; Folic Acid; Glutamate Formimidoyltransferase; Glutamates; Histidine; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Metabolic Diseases; Metabolism; Metabolism, Inborn Errors; Urine	1963
Partial deficiency of thyroxine-binding globulin-Allentown is due to a mutation in the signal peptide. The Journal of clinical endocrinology and metabolism, 2004, Volume: 89, Issue:5 Topics: Adolescent; Amino Acid Substitution; Animals; Female; Histidine; Humans; Metabolism, Inborn Errors; Mutation; Oocytes; Pedigree; Protein Sorting Signals; Recombinant Proteins; RNA, Messenger; Thyroid Function Tests; Thyroid Gland; Thyroxine-Binding Proteins; Tyrosine; Xenopus	2004
Fumarase deficiency presenting with periventricular cysts. Journal of inherited metabolic disease, 2005, Volume: 28, Issue:5 Topics: Brain; Cysts; DNA Mutational Analysis; DNA, Complementary; Electroencephalography; Fatal Outcome; Female; Fumarate Hydratase; Fumarates; Heterozygote; Histidine; Humans; Infant, Newborn; Ketoglutaric Acids; Leukomalacia, Periventricular; Lysine; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Phenotype; Pyruvic Acid; Ultrasonography	2005
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
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
[Clinical studies of histidinemia (author's transl)]. [Hokkaido igaku zasshi] The Hokkaido journal of medical science, 1981, Volume: 56, Issue:1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Bacillus subtilis; Biological Assay; Child, Preschool; Histidine; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors	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
[Measurement of histidase activity in the oral mucous membrane with radioactivity labelled L-histidine (author's transl)]. Rinsho byori. The Japanese journal of clinical pathology, 1981, Volume: 29, Issue:11 Topics: Adult; Ammonia-Lyases; Carbon Radioisotopes; Child, Preschool; Female; Histidine; Histidine Ammonia-Lyase; Humans; Infant; Male; Metabolism, Inborn Errors; Microchemistry; Mouth Mucosa	1981
Standardized method for high-resolution 1H-NMR of cerebrospinal fluid. Clinical chemistry, 1995, Volume: 41, Issue:5 Topics: Adult; Amino Acids; Canavan Disease; Carbon-Carbon Ligases; Cerebrospinal Fluid; Child; Female; Gas Chromatography-Mass Spectrometry; Histidine; Humans; Hydrogen-Ion Concentration; Lactates; Lactic Acid; Ligases; Magnetic Resonance Spectroscopy; Male; Metabolism, Inborn Errors; Sensitivity and Specificity; Valerates; Volatilization	1995
Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine 233 as an active site residue. The Journal of biological chemistry, 1996, Oct-04, Volume: 271, Issue:40 Topics: Acyl Coenzyme A; Binding Sites; Diethyl Pyrocarbonate; Enzyme Inhibitors; Histidine; Humans; Hydrolysis; Metabolism, Inborn Errors; Oxo-Acid-Lyases; Point Mutation	1996
Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity. Journal of inherited metabolic disease, 1998, Volume: 21, Issue:1 Topics: Child, Preschool; Female; Histidine; Humans; Liver; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Point Mutation; Proline	1998
[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
[Diagnosis and therapy of 6 hereditary, to mental-deficiency-leading, metabolic disorders. 2]. Medizinische Klinik, 1976, Apr-30, Volume: 71, Issue:18 Topics: Acute Disease; Diagnosis, Differential; Galactose; Galactosemias; Germany, West; Histidine; Homocystine; Homocystinuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Methionine; Phosphotransferases	1976
[Hereditary metabolic disorders with significance for adult age. Homocystinuria, histidinemia, cystinuria, vitamin-D-resistant rickets, alpha1-antitrypsin deficiency]. Der Internist, 1976, Volume: 17, Issue:7 Topics: Adult; Age Factors; alpha 1-Antitrypsin Deficiency; Amino Acid Metabolism, Inborn Errors; Child; Cystinuria; Diagnosis, Differential; Histidine; Homocystinuria; Humans; Hypophosphatemia, Familial; Liver Cirrhosis; Marfan Syndrome; Metabolism, Inborn Errors; Pulmonary Emphysema	1976
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
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
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
[Multiple screening tests for hereditary metabolic diseases. Clinical problems and questions of interpretation]. Minerva pediatrica, 1975, Nov-24, Volume: 27, Issue:37 Topics: Genotype; Histidine; Humans; Metabolism, Inborn Errors; Methods; Phenylalanine; Tyrosine	1975
[Hypoplasia of tooth in children with inborn errors of metabolism]. Shoni shikagaku zasshi. The Japanese journal of pedodontics, 1990, Volume: 28, Issue:2 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Dental Enamel Hypoplasia; Gangliosidosis, GM1; Histidine; Humans; Infant; Metabolism, Inborn Errors; Tooth Abnormalities; Tooth Diseases	1990
Homocarnosinosis: influence of dietary restriction of histidine. Neurochemical research, 1986, Volume: 11, Issue:6 Topics: Adult; Amino Acids; Carnosine; Diet; Dipeptides; Histidine; Humans; Male; Metabolism, Inborn Errors	1986
The use of histidase for the study of amniotic cell origin and histidinemia. American journal of obstetrics and gynecology, 1973, Oct-15, Volume: 117, Issue:4 Topics: Ammonia-Lyases; Amniotic Fluid; Cells, Cultured; Clinical Enzyme Tests; Culture Techniques; Female; Fetus; Gestational Age; Histidine; Histidine Ammonia-Lyase; Humans; Liver; Metabolism, Inborn Errors; Pregnancy; Staining and Labeling; Urocanate Hydratase	1973
[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
Disorders of folate metabolism. Disease-a-month : DM, 1972 Topics: Clinical Laboratory Techniques; Diet; Female; Folic Acid; Folic Acid Antagonists; Folic Acid Deficiency; Histidine; Humans; Male; Metabolism, Inborn Errors; Pregnancy; Purines	1972
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
Application of automation and systems analysis to detection of histidinemia. Biochemical medicine, 1972, Volume: 6, Issue:5 Topics: Acetates; Adolescent; Adult; Aged; Ammonia-Lyases; Autoanalysis; Child; Child, Preschool; Chromatography, Thin Layer; Colorimetry; Creatinine; Diagnosis, Computer-Assisted; Histidine; Humans; Imidazoles; Metabolism, Inborn Errors; Methods; Middle Aged	1972
Increase in serum folate following on oral histidine load. The Tohoku journal of experimental medicine, 1972, Volume: 108, Issue:3 Topics: Administration, Oral; Adolescent; Adult; Child; Female; FIGLU Test; Folic Acid; Formamides; Histidine; Humans; Intellectual Disability; Male; Metabolism, Inborn Errors; Skin; Syphilis Serodiagnosis; Syphilis, Congenital; Transferases	1972
[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
Serum carnosinase deficiency concomitant with mental retardation. Pediatric research, 1973, Volume: 7, Issue:7 Topics: Age Factors; Child; Child, Preschool; Chromatography; Dipeptidases; Dipeptides; Electrophoresis, Starch Gel; Female; Histidine; Humans; Intellectual Disability; Kidney; Liver; Male; Metabolism, Inborn Errors; Methylhistidines; Nervous System Diseases; Spleen; Tissue Extracts	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
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
[Demands on screening tests in inborn anomalies of metabolism]. Wiener klinische Wochenschrift, 1970, Oct-18, Volume: 82, Issue:42 Topics: Bacillus subtilis; Chromatography; Chromatography, Paper; Culture Media; Galactose; Histidine; Humans; Infant, Newborn; Leucine; Mass Screening; Metabolism, Inborn Errors; Methionine; Phenylalanine; Tyrosine	1970
[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
[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
Histidinemia in two successive generations. American journal of diseases of children (1960), 1970, Volume: 119, Issue:3 Topics: Adolescent; Adult; Audiometry; Child; Chromatography, Paper; Chromosome Aberrations; Chromosome Disorders; FIGLU Test; Histidine; Humans; Intelligence Tests; Male; Metabolism, Inborn Errors; Pedigree; Physical Examination; Psychometrics; Skin	1970
Histidinemia. Helvetica paediatrica acta, 1970, Volume: 25, Issue:2 Topics: Acetates; Acrylates; Adolescent; Alanine; Glycine; Histidine; Humans; Imidazoles; Lactates; Lyases; Male; Metabolism, Inborn Errors; Purpura, Thrombocytopenic; Pyruvates; Serine; Threonine	1970
Two-dimensional thin-layer chromatography on two-layer plates of amino acids. Clinical chemistry, 1970, Volume: 16, Issue:8 Topics: Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cellulose; Chromatography, Thin Layer; Histidine; Humans; Metabolism, Inborn Errors; Methods; Solvents; Succinates	1970
Amino acid substitution (histidine to tyrosine) in a glucose-6-phosphate dehydrogenase variant (G6PD Hektoen) associated with over-production. Journal of molecular biology, 1970, Sep-28, Volume: 52, Issue:3 Topics: Amino Acid Sequence; Chromatography, Paper; Electrophoresis; Genetic Code; Glucosephosphate Dehydrogenase; Histidine; Humans; Metabolism, Inborn Errors; Molecular Weight; Peptides; Tyrosine	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
[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
14CO2 in expired air after radioactive histidine injection in formiminotransferase deficiency syndrome. The Tohoku journal of experimental medicine, 1968, Volume: 96, Issue:4 Topics: Carbon Dioxide; Carbon Isotopes; Child, Preschool; Folic Acid; Glutamates; Histidine; Humans; Infant; Injections, Intravenous; Male; Metabolism, Inborn Errors; Respiration; Transferases	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
[Biochemical and analytical bases of the exploration of histidine metabolism]. Annales de pediatrie, 1964, Mar-02, Volume: 11, Issue:3 Topics: Folic Acid Deficiency; Histidine; Humans; Metabolism, Inborn Errors	1964
[Disorder of histidine metabolism induced by anticonvulsant therapy during a familial myoclonic encephalopathy]. Annales de pediatrie, 1964, Mar-02, Volume: 11, Issue:3 Topics: Blindness; Brain Diseases; Child, Preschool; Female; Histidine; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Myoclonus	1964
[Changes of renal function in cystinosis. II. Aminoacid clearances]. Annales paediatrici. International review of pediatrics, 1965, Volume: 205, Issue:6 Topics: Amino Acids; Aminohippuric Acids; Child; Child, Preschool; Chromatography; Cystinosis; Electrolytes; Glomerular Filtration Rate; Histidine; Humans; Infant; Inulin; Kidney Function Tests; Metabolism, Inborn Errors; Taurine; Urine	1965