tyrosine has been researched along with BCKD Deficiency in 50 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 42 (84.00) | 18.7374 |
| 1990's | 6 (12.00) | 18.2507 |
| 2000's | 1 (2.00) | 29.6817 |
| 2010's | 1 (2.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Coelho, Dde M; Donida, B; Dutra-Filho, CS; Faverzani, J; Guerreiro, G; Hammerschmidt, T; Marchetti, D; Mescka, CP; Sitta, A; Vargas, CR; Wajner, M | 1 |
| SCHULTZE-JENA, BS | 1 |
| EFRON, ML | 2 |
| FINCKE, ML | 1 |
| Moser, HW; Prensky, AL | 1 |
| Halvorsen, S; Kindt, E | 1 |
| Meister, A; Wellner, D | 1 |
| Becker, K | 1 |
| Mamunes, P | 1 |
| Milner, RD; Wirdnam, PK | 1 |
| Chuang, DT; Chuang, JL; Cox, RP; Fisher, CR | 1 |
| Bellisario, R; Pass, KA; Reilly, AA | 1 |
| Baab, PJ; Collins, RM; Zielke, CL; Zielke, HR | 1 |
| Bickel, H | 1 |
| Centerwall, WR; Chinnock, RF; Goodman, SI; Mace, JW | 1 |
| Havass, Z; László, A; Nagy, I; Svékus, A; Sztriha, L; Szücs, L; Veres, E | 1 |
| Miller, JB; Qu, Y; Shapira, E; Slocum, RH | 1 |
| Chuang, DT; Cox, RP; Fisher, CR; Fisher, CW | 1 |
| Halliday, D; Leonard, JV; Thompson, GN; Walter, JH | 1 |
| Bartmann, P; Gortner, L; Leupold, D; Pohlandt, F | 1 |
| Crabb, DW; Edenberg, HJ; Goodwin, GW; Harris, RA; Kuntz, MJ; Zhang, B | 1 |
| Reavey, PC; Yadav, GC | 1 |
| Rigilano, JC; Stevens, MB; Wilson, CC | 1 |
| Horn, L; Jellum, E; Kvittingen, EA; Stokke, O; Thoresen, O | 1 |
| Kawamura, M | 1 |
| Donnell, GN; Koch, R; Lieberman, E; Shaw, KN | 1 |
| Royer, P | 1 |
| Perrone, L | 1 |
| Bickel, H; Schmidt, H; Schürrle, L | 1 |
| Ampola, MG | 1 |
| Levy, HL | 2 |
| Martin, JJ; Schlote, W | 1 |
| Kroll, S; Toussaint, W; Zebisch, P | 2 |
| Tomaszewski, L | 1 |
| Schmid-Rüter, E | 1 |
| Ampola, MG; Efron, ML | 1 |
| Balda, BR; Lukacs, I | 1 |
| Rey, F; Rey, J; Sivy, M | 1 |
| Knoll, E; Scheibenreiter, S; Schmierer, G; Schön, R; Thalhammer, O | 1 |
| Barkin, E; Levy, HL | 1 |
| van der Horst, JL; Wadman, SK | 1 |
| Hagge, W; Irtel von Brenndorff, A | 1 |
| Giovannini, M | 1 |
9 review(s) available for tyrosine and BCKD Deficiency
| Article | Year |
|---|---|
AMINOACIDURIA.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis; Glycine; Humans; Kidney; Leucine; Maple Syrup Urine Disease; Phenylketonurias; Renal Aminoacidurias; Tyrosine; Valine | 1965 |
A survey of inborn errors of amino acid metabolism and transport in man.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Branched-Chain; Biological Transport; Cystinosis; Female; Glutathione; Glycine; Homocystinuria; Humans; Hydroxyproline; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Phenylalanine; Proline; Serine; Tyrosine; Urea; Valine | 1981 |
Neonatal screening tests.
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 |
Dietary treatment of inborn errors of amino acid and carbohydrate metabolism.
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.
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.
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.
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.
Topics: Amino Acid Metabolism, Inborn Errors; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Hydroxyproline; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Tyrosine | 1967 |
[Molecular biologic aspects in dermatology demonstrated by some hereditary enzyme defects].
Topics: Albinism; Alkaptonuria; Anemia, Sickle Cell; Chromosomes; Hartnup Disease; Humans; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Models, Chemical; Molecular Biology; Phenylalanine; Phenylketonurias; Porphyrias; Skin Diseases; Tyrosine | 1968 |
41 other study(ies) available for tyrosine and BCKD Deficiency
| Article | Year |
|---|---|
Urinary biomarkers of oxidative damage in Maple syrup urine disease: the L-carnitine role.
Topics: Amino Acids; Analysis of Variance; Antioxidants; Biomarkers; Child; Child, Preschool; Dietary Supplements; Dinoprost; Enzyme-Linked Immunosorbent Assay; Female; Humans; Isoprostanes; Keto Acids; Male; Maple Syrup Urine Disease; Tandem Mass Spectrometry; Tyrosine | 2015 |
[Hereditary enzyme defects of amino acid metabolism].
Topics: Albinism; Alkaptonuria; Amino Acids; Humans; Maple Syrup Urine Disease; Metabolic Diseases; Phenylketonurias; Proteins; Tryptophan; Tyrosine | 1962 |
INBORN ERRORS OF METABOLISM.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism; Carbohydrate Metabolism, Inborn Errors; Classification; Clinical Laboratory Techniques; Galactosemias; Genetics, Medical; Humans; Intellectual Disability; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Maple Syrup Urine Disease; Mass Screening; Phenylketonurias; Tyrosine | 1965 |
Changes in the amino acid composition of proteolipids of white matter during maturation of the human nervous system.
Topics: Adult; Aged; Amino Acids; Aspartic Acid; Central Nervous System; Child; Frontal Lobe; Humans; Infant; Infant, Newborn; Leucine; Lipoproteins; Maple Syrup Urine Disease; Phenylalanine; Proline; Tyrosine | 1967 |
Diet therapy for inborn errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child, Preschool; Coenzymes; Cystinuria; Diet Therapy; Hartnup Disease; Humans; Infant; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Tyrosine | 1967 |
The need of essential amino acids in children. An evaluation based on the intake of phenylalanine, tyrosine, leucine, isoleucine, and valine in children with phenylketonuria, tyrosine amino transferase defect, and maple syrup urine disease.
Topics: Amino Acids, Essential; Child; Child, Preschool; Dietary Proteins; Female; Humans; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Nutritional Requirements; Phenylalanine; Phenylketonurias; Protein Biosynthesis; Tyrosine; Tyrosine Transaminase; Valine | 1980 |
[Phaenotypic aspects of hereditary aminoacidopathies (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cystinosis; Germany, West; Homocystinuria; Humans; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Mass Screening; Phenotype; Phenylketonurias; Time Factors; Tyrosine | 1981 |
The pancreatic beta cell fraction in children with errors of amino acid metabolism.
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 |
Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Base Sequence; Cysteine; DNA Mutational Analysis; DNA Primers; Female; Fibroblasts; Humans; Infant; Ketone Oxidoreductases; Male; Maple Syrup Urine Disease; Molecular Sequence Data; Multienzyme Complexes; Mutation; Oligonucleotide Probes; Point Mutation; Promoter Regions, Genetic; Regulatory Sequences, Nucleic Acid; RNA, Messenger; Sequence Deletion; Transfection; Tyrosine | 1994 |
Multivariate discrimination for phenylketonuria (PKU) and non-PKU hyperphenylalaninemia after analysis of newborns' dried blood-spot specimens for six amino acids by ion-exchange chromatography.
Topics: Amino Acids; Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; False Positive Reactions; Genetic Testing; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Multivariate Analysis; New York; Phenylalanine; Phenylketonurias; Tyrosine | 1998 |
Large neutral amino acids auto exchange when infused by microdialysis into the rat brain: implication for maple syrup urine disease and phenylketonuria.
Topics: Amino Acid Transport Systems, Neutral; Amino Acids, Cyclic; Amino Acids, Neutral; Animals; Binding, Competitive; Biological Transport; Blood-Brain Barrier; Brain; Extracellular Space; Hippocampus; Keto Acids; Leucine; Maple Syrup Urine Disease; Microdialysis; Models, Biological; Nerve Tissue Proteins; Neurons; Phenylalanine; Phenylketonurias; Rats; Tyrosine | 2002 |
Dietary restriction in inborn errors of amino acid metabolism.
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 |
The child with an unusual odor. A clinical resumé.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Choline; Diabetes Mellitus, Type 1; Diabetic Ketoacidosis; Humans; Infant; Leucine; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methionine; Odorants; Phenylketonurias; Tyrosine | 1976 |
American Academy of Pediatrics. Committee on Nutrition: special diets for infants with inborn errors of amino acid metabolism.
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 |
Frequency of inborn errors of metabolism, especially PKU, in some representative newborn screening centers around the world: a collaborative study.
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 |
[Biochemical, clinical and genetic analysis of various aminoacidopathies (non-ketotic hyperglycemia, maple syrup urine disease, histidinemia, tyrosinemia)].
Topics: Amino Acid Metabolism, Inborn Errors; Female; Histidine; Humans; Hyperglycemia; Infant; Infant, Newborn; Male; Maple Syrup Urine Disease; Tyrosine | 1992 |
Rapid automated quantitation of isoleucine, leucine, tyrosine and phenylalanine from dried blood filter paper specimens.
Topics: Amino Acid Metabolism, Inborn Errors; Autoanalysis; Chromatography, High Pressure Liquid; Humans; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Neonatal Screening; Paper; Phenylalanine; Phenylketonurias; Tyrosine | 1991 |
Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Alleles; Asparagine; Base Sequence; Blotting, Southern; DNA; Ethnicity; Genes; Humans; Ketone Oxidoreductases; Maple Syrup Urine Disease; Molecular Sequence Data; Multienzyme Complexes; Mutation; Oligonucleotide Probes; Philadelphia; Polymerase Chain Reaction; Tyrosine | 1991 |
In vivo enzyme activity in inborn errors of metabolism.
Topics: Adult; Bicarbonates; Carbon Isotopes; Child; Child, Preschool; Deuterium; Female; Humans; Hydroxylation; Isotope Labeling; Leucine; Male; Malonates; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methylmalonic Acid; Oxidation-Reduction; Phenylalanine; Phenylketonurias; Propionates; Radioisotope Dilution Technique; Reference Values; Tyrosine | 1990 |
Peritoneal dialysis in the treatment of metabolic crises caused by inherited disorders of organic and amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Creatinine; Female; Humans; Infant, Newborn; Male; Maple Syrup Urine Disease; Peritoneal Dialysis; Propionates; Tyrosine | 1989 |
cDNA cloning of the E1 alpha subunit of the branched-chain alpha-keto acid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Alleles; Animals; Asparagine; Cloning, Molecular; DNA; Fibroblasts; Gene Library; Humans; Immunoblotting; Ketone Oxidoreductases; Liver; Maple Syrup Urine Disease; Multienzyme Complexes; Mutation; Rats; Tyrosine | 1989 |
Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital.
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 |
State screening for metabolic disorders in newborns.
Topics: Adrenal Hyperplasia, Congenital; Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Anemia, Sickle Cell; Biotinidase; Congenital Hypothyroidism; Cystic Fibrosis; Galactosemias; Homocystinuria; Humans; Hypothyroidism; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Tyrosine; United States | 1988 |
Urinary excretion of N-acetyl amino acids in patients with some inborn errors of amino acid metabolism.
Topics: Acetylation; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Gas Chromatography-Mass Spectrometry; Humans; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Tyrosine | 1986 |
[Laboratory examinations for inborn errors of metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Computers; Congenital Hypothyroidism; Galactosemias; Gas Chromatography-Mass Spectrometry; Homocystinuria; Humans; Japan; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Tyrosine | 1986 |
Cystathioninuria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carcinoma, Hepatocellular; Child, Preschool; Cysteine; Diet Therapy; Female; Galactosemias; Glycogen; Humans; Infant; Intellectual Disability; Liver Neoplasms; Male; Maple Syrup Urine Disease; Methionine; Middle Aged; Neuroblastoma; Phenylketonurias; Portal Vein; Pyridoxine; Serine; Sulfisoxazole; Tyrosine | 1967 |
[Dietetics in hereditary enzyme deficiencies].
Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Diarrhea, Infantile; Diet Therapy; Galactosemias; Homocystinuria; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Phenylalanine; Phenylketonurias; Tyrosine; Valine | 1970 |
[Diet therapy of some inborn errors of metabolism].
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 |
Neuropathological study of aminoacidurias.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Central Nervous System; Cystathionine; Female; Glycine; Homocystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Male; Maple Syrup Urine Disease; Middle Aged; Phenylketonurias; Renal Tubular Transport, Inborn Errors; Sex Factors; Tyrosine; Urea | 1972 |
[Hereditary amino acid metabolism disorders. Indications for early diagnosis].
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].
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].
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 |
[Screening results for inborn errors of metabolism in Western Europe].
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.
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 |
Screening for inborn errors of metabolism. Report of a WHO Scientific Group.
Topics: Adrenal Hyperplasia, Congenital; Amino Acid Metabolism, Inborn Errors; Carrier State; Ceruloplasmin; Cholinesterases; Cystic Fibrosis; Diagnostic Services; Female; Galactosemias; Genetic Diseases, Inborn; Hepatolenticular Degeneration; Humans; Infant; Infant, Newborn; Male; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Phenylketonurias; Porphyrias; Tyrosine; World Health Organization | 1968 |
[Rapid separation of aromatic and ramified amino acids by chromatography on ion exchange columns. Application to the surveillance of leucinosis and hyperphenylalaninemia].
Topics: Amino Acids; Chromatography, Ion Exchange; Humans; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Methods; Phenylalanine; Phenylketonurias; Tyrosine; Valine | 1972 |
[5 years of the Austrian program for the early detection of inborn errors of metabolism. Activity report].
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 |
Comparison of amino acid concentrations between plasma and erythrocytes. Studies in normal human subjects and those with metabolic disorders.
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 |
A variant form of branched-chain keto aciduria.
Topics: Amino Acids; Child Behavior Disorders; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Diet Therapy; Dietary Proteins; Female; Heterozygote; Humans; Infant; Intellectual Disability; Isoleucine; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Methionine; Motor Skills; Pedigree; Phenylketonurias; Tyrosine; Valine | 1971 |
[Experiences with a new amino acid analyzer for a rapid analysis].
Topics: Amino Acids; Autoanalysis; Homocystine; Homocystinuria; Humans; Infant, Newborn; Infant, Premature, Diseases; Isoleucine; Leucine; Maple Syrup Urine Disease; Metabolic Diseases; Methionine; Phenylalanine; Phenylketonurias; Tyrosine; Valine | 1970 |
[Current views on therapy of some dysmetabolic oligophrenias].
Topics: Child, Preschool; Diet Therapy; Galactosemias; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Intellectual Disability; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Phenylketonurias; Tyrosine | 1967 |