leucine and BH4 Deficiency

leucine has been researched along with BH4 Deficiency in 52 studies

Research

Studies (52)

TimeframeStudies, this research(%)All Research%
pre-199036 (69.23)18.7374
1990's12 (23.08)18.2507
2000's3 (5.77)29.6817
2010's1 (1.92)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Cheng, B; Elango, R; Giezen, A; Salvarinova, R; Stockler-Ipsiroglu, S; Turki, A; Ueda, K1
Darvish, M; Ebrahimi, SA; Ghadam, P1
TASHIAN, RE1
GOSCINSKA, Z; GUMINSKA, M; HALIKOWSKI, B1
EFRON, ML1
Bacon, J; Bishu, S; Burlin, TV; Channing, MA; Herscovitch, P; Huang, T; Liu, ZH; Qin, M; Schmidt, KC; Smith, CB; Vuong, BK; Xia, Z1
Halvorsen, S; Kindt, E1
Lipovac, K; Zanić-Grubisić, T1
Berio, A1
Kerr, D; Ruch, T1
Schreier, K1
Berry, HK; Bofinger, MK; Guilfoile, MB; Hunt, MM; Phillips, PJ1
Abadie, V; Berthelon, M; Jaruzelska, J; Lyonnet, S; Millasseau, P; Munnich, A; Rey, F; Rey, J1
Awiszus, D; Hilliges, C; Wendel, U1
Christensen, E; Hasselbalch, S; Knudsen, GM; Lou, H; Paulson, OB; Toft, PB1
Brösicke, H; Herrmann, ME; Keller, M; Mönch, E; Schöffer, A1
Bellisario, R; Pass, KA; Reilly, AA1
Baab, PJ; Collins, RM; Zielke, CL; Zielke, HR1
Hughes, JV; Johnson, TC1
Antonas, KN; Coulson, WF1
Centerwall, WR; Chinnock, RF; Goodman, SI; Mace, JW1
Andersen, AE; Avins, L1
Barashnev, IuI; Vel'tishchev, IuE1
Desviat, LR; Pérez, B; Ugarte, M1
Miller, JB; Qu, Y; Shapira, E; Slocum, RH1
Hommes, FA; Lee, JS1
Berry, HK; Brunner, RL; Hunt, MM; White, PP1
Halliday, D; Leonard, JV; Thompson, GN; Walter, JH1
Halliday, D; Pacy, PJ; Thompson, GN; Watts, RW1
Guthrie, R; Jinks, DC; Vollmer, DW1
Chow, IZ; Inoue, A; Isshiki, G; Okano, Y; Oura, T1
Berry, HK; Brunner, RL; Hunt, MM; Jordan, MK1
Lutz, P1
Royer, P1
Brissaud, HE1
Fekete, G1
Perrone, L1
Thalhammer, O1
Levy, HL1
Machill, G1
Oldendorf, WH1
LeValley, SE; Mitoma, C1
Linneweh, F1
Rey, F; Rey, J; Sivy, M1
Heller-Schöch, G; Neth, R; Winkler, K1
van der Horst, JL; Wadman, SK1
Steuer, W1
Agrawal, HC; Bone, AH; Davison, AN1
Hagge, W; Irtel von Brenndorff, A1
Blennemann, H1

Reviews

5 review(s) available for leucine and BH4 Deficiency

ArticleYear
AMINOACIDURIA.
    The New England journal of medicine, 1965, May-20, Volume: 272

    Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis; Glycine; Humans; Kidney; Leucine; Maple Syrup Urine Disease; Phenylketonurias; Renal Aminoacidurias; Tyrosine; Valine

1965
[Early detection of hereditary anomalies of metabolism in children (screening programs)].
    Voprosy okhrany materinstva i detstva, 1975, Volume: 20, Issue:8

    Topics: Age Factors; Cysteine; Galactosemias; Glucosephosphate Dehydrogenase Deficiency; Glutamate Dehydrogenase; Histidine Ammonia-Lyase; Humans; Hyperlipidemias; Infant, Newborn; Leucine; Mass Screening; Metabolism, Inborn Errors; Oxalates; Phenylketonurias; Pyruvate Kinase; Respiratory Distress Syndrome, Newborn; Time Factors; UTP-Hexose-1-Phosphate Uridylyltransferase

1975
[Early detection of congenital metabolic anomalies].
    Klinische Padiatrie, 1973, Volume: 185, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Austria; Blood; Chromatography, Paper; Chromatography, Thin Layer; Economics; Fluorometry; Galactosemias; Humans; Infant, Newborn; Leucine; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Umbilical Cord

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
Amino acid intoxication.
    Food and cosmetics toxicology, 1971, Volume: 9, Issue:1

    Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Benzyl Compounds; Biological Transport, Active; Brain; Caseins; Chickens; Cytoplasm; Endoplasmic Reticulum; Fasting; Feeding Behavior; Glutathione; Growth; Humans; Injections, Intraperitoneal; Leucine; Liver; Methionine; Microsomes; Mitochondrial Swelling; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Protein Biosynthesis; Rats; Tyrosine

1971

Trials

1 trial(s) available for leucine and BH4 Deficiency

ArticleYear
Valine, isoleucine, and leucine. A new treatment for phenylketonuria.
    American journal of diseases of children (1960), 1990, Volume: 144, Issue:5

    Topics: Adolescent; Adult; Attention; Child; Double-Blind Method; Humans; Isoleucine; Language Tests; Leucine; Memory; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic; Valine

1990

Other Studies

46 other study(ies) available for leucine and BH4 Deficiency

ArticleYear
The Indicator Amino Acid Oxidation Method with the Use of l-[1-13C]Leucine Suggests a Higher than Currently Recommended Protein Requirement in Children with Phenylketonuria.
    The Journal of nutrition, 2017, Volume: 147, Issue:2

    Topics: Adolescent; Amino Acids; Carbon Isotopes; Child; Dietary Proteins; Female; Humans; Isotope Labeling; Leucine; Male; Nutritional Physiological Phenomena; Nutritional Requirements; Oxidation-Reduction; Phenylketonurias

2017
Development of micellar electro kinetic chromatography for the separation and quantitation of L-valine, L-leucine, L-isoleucin and L-phenylalanine in human plasma and comparison with HPLC.
    Pakistan journal of biological sciences : PJBS, 2007, Aug-01, Volume: 10, Issue:15

    Topics: Chromatography, High Pressure Liquid; Chromatography, Micellar Electrokinetic Capillary; Humans; Isoleucine; Leucine; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Plasma; Reproducibility of Results; Valine

2007
Inhibition of brain glutamic acid decarboxylase by phenylalanine, valine, and leucine derivatives: a suggestion concerning the etiology of the neurological defect in phenylketonuria and branched-chain ketonuria.
    Metabolism: clinical and experimental, 1961, Volume: 10

    Topics: Amino Acids; Brain; Glutamate Decarboxylase; Humans; Intellectual Disability; Ketosis; Leucine; Lyases; Maple Syrup Urine Disease; Metabolic Diseases; Phenylalanine; Phenylketonurias; Valine

1961
[EFFECT OF LEUCINE ON GLYCEMIA IN DIABETES IN CHILDREN].
    Pediatria polska, 1964, Volume: 39

    Topics: Adolescent; Blood Glucose; Child; Diabetes Mellitus; Diabetes Mellitus, Type 1; Epinephrine; Humans; Hypoglycemia; Leucine; Pharmacology; Phenylketonurias

1964
Use of acute hyperphenylalaninemia in rhesus monkeys to examine sensitivity and stability of the L-[1-11C]leucine method for measurement of regional rates of cerebral protein synthesis with PET.
    Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism, 2008, Volume: 28, Issue:7

    Topics: Animals; Brain Chemistry; Carbon Radioisotopes; Kinetics; Leucine; Macaca mulatta; Methods; Phenylketonurias; Positron-Emission Tomography; Protein Biosynthesis

2008
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.
    The American journal of clinical nutrition, 1980, Volume: 33, Issue:2

    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
Disturbances of amino acid transport in rats with experimental hyperphenylalaninaemia.
    Journal of inherited metabolic disease, 1981, Volume: 4, Issue:2

    Topics: Amino Acids; Animals; Cerebral Cortex; Disease Models, Animal; Fenclonine; Glycine; Humans; Leucine; Liver; Phenylalanine; Phenylketonurias; Rats; Tryptophan

1981
[Monodimensional electrophoretic picture of the most frequent hyperaminoacidurias caused by disorders of the intermediate metabolism of aminoacids (pre-renal)].
    Minerva pediatrica, 1984, Sep-15, Volume: 36, Issue:17

    Topics: Amino Acids; Argininosuccinic Acid; Child; Electrophoresis; Homocystinuria; Humans; Leucine; Phenylketonurias

1984
Decreased essential amino acid requirements without catabolism in phenylketonuria and maple syrup urine disease.
    The American journal of clinical nutrition, 1982, Volume: 35, Issue:2

    Topics: Amino Acids; Child, Preschool; Dietary Proteins; Dihydropteridine Reductase; Female; Humans; Infant; Infant, Newborn; Leucine; Male; Maple Syrup Urine Disease; Milk, Human; Nutritional Requirements; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias

1982
[Modern possibilities in the early diagnosis of congenital metabolic diseases].
    Die Medizinische Welt, 1982, Apr-02, Volume: 33, Issue:13

    Topics: Female; Humans; Hypercholesterolemia; Hyperlipoproteinemia Type IV; Hypoglycemia; Infant, Newborn; Leucine; Metabolism, Inborn Errors; Phenylketonurias; Pregnancy; Prenatal Diagnosis

1982
Reduction of cerebrospinal fluid phenylalanine after oral administration of valine, isoleucine, and leucine.
    Pediatric research, 1982, Volume: 16, Issue:9

    Topics: Administration, Oral; Adult; Amino Acids, Branched-Chain; Child; Female; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Phenylalanine; Phenylketonurias; Tyrosine; Valine

1982
Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.
    Human molecular genetics, 1993, Volume: 2, Issue:1

    Topics: Amino Acid Sequence; Base Sequence; Codon; DNA; Exons; Glutamates; Glutamic Acid; Glycine; Humans; Infant; Leucine; Liver; Lymphocytes; Male; Molecular Sequence Data; Oligodeoxyribonucleotides; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Polymorphism, Restriction Fragment Length; Transcription, Genetic

1993
Intellectual performance of children with maple syrup urine disease.
    European journal of pediatrics, 1993, Volume: 152, Issue:2

    Topics: Adolescent; Case-Control Studies; Child; Child, Preschool; Female; Humans; Intellectual Disability; Intelligence; Intelligence Tests; Least-Squares Analysis; Leucine; Male; Maple Syrup Urine Disease; Phenylketonurias

1993
Blood-brain barrier transport of amino acids in healthy controls and in patients with phenylketonuria.
    Journal of inherited metabolic disease, 1995, Volume: 18, Issue:6

    Topics: Adult; Amino Acids; Biological Transport; Blood-Brain Barrier; Brain; Humans; Leucine; Male; Phenylalanine; Phenylketonurias

1995
Utilisation of amino acid mixtures in adolescents with phenylketonuria.
    European journal of pediatrics, 1996, Volume: 155 Suppl 1

    Topics: Adolescent; Adult; Amino Acids; Arginine; Blood Glucose; Diet, Protein-Restricted; Dietary Proteins; Humans; Insulin; Lactic Acid; Leucine; Phenylketonurias

1996
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.
    Clinical chemistry, 1998, Volume: 44, Issue:2

    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.
    Neurochemistry international, 2002, Volume: 40, Issue:4

    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
Abnormal amino acid metabolism and brain protein synthesis during neural development.
    Neurochemical research, 1978, Volume: 3, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Humans; Leucine; Lipid Metabolism; Methionine; Myelin Sheath; Nerve Tissue Proteins; Nervous System; Neurotransmitter Agents; Phenethylamines; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polyribosomes; Pyruvate Kinase; RNA, Transfer, Amino Acyl; Serotonin

1978
Brain uptake and protein incorporation of amino acids studied in rats subjected to prolonged hyperphenylalaninaemia.
    Journal of neurochemistry, 1975, Volume: 25, Issue:3

    Topics: Amino Acids; Animals; Brain; Disease Models, Animal; Female; Fenclonine; Glycine; Humans; Leucine; Lysine; Male; Nerve Tissue Proteins; Phenylalanine; Phenylketonurias; Rats

1975
The child with an unusual odor. A clinical resumé.
    Clinical pediatrics, 1976, Volume: 15, Issue:1

    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.
    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
Lowering brain phenylalanine levels by giving other large neutral amino acids. A new experimental therapeutic approach to phenylketonuria.
    Archives of neurology, 1976, Volume: 33, Issue:10

    Topics: Amino Acids; Animals; Brain Chemistry; Dose-Response Relationship, Drug; Drug Combinations; Humans; Isoleucine; Leucine; Phenylalanine; Phenylketonurias; Rats; Threonine; Tryptophan; Tyrosine; Valine

1976
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
Rapid automated quantitation of isoleucine, leucine, tyrosine and phenylalanine from dried blood filter paper specimens.
    Clinica chimica acta; international journal of clinical chemistry, 1991, Dec-16, Volume: 203, Issue:2-3

    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
The effect of plasma valine, isoleucine and leucine on the control of the flux through tyrosine- and tryptophan-hydroxylase in the brain.
    Journal of inherited metabolic disease, 1990, Volume: 13, Issue:2

    Topics: Blood-Brain Barrier; Brain; Food, Formulated; Humans; Isoleucine; Leucine; Phenylketonurias; Tryptophan Hydroxylase; Tyrosine 3-Monooxygenase; Valine

1990
In vivo enzyme activity in inborn errors of metabolism.
    Metabolism: clinical and experimental, 1990, Volume: 39, Issue:8

    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
Protein metabolism in phenylketonuria and Lesch-Nyhan syndrome.
    Pediatric research, 1990, Volume: 28, Issue:3

    Topics: Adolescent; Adult; Amino Acids; Female; Growth Disorders; Humans; Lesch-Nyhan Syndrome; Leucine; Male; Middle Aged; Phenylalanine; Phenylketonurias; Proteins

1990
Isocratic reverse-phase liquid chromatography assay for amino acid metabolic disorders using eluates of dried blood spots.
    Analytical biochemistry, 1990, Aug-15, Volume: 189, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Calibration; Chromatography, Liquid; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Methionine; Phenylalanine; Phenylketonurias; Reference Values

1990
Effects of phenylalanine loading on protein synthesis in the fetal heart and brain of rat: an experimental approach to maternal phenylketonuria.
    Journal of inherited metabolic disease, 1986, Volume: 9, Issue:1

    Topics: Animals; Brain; Carbon Radioisotopes; Disease Models, Animal; Female; Fenclonine; Fetal Heart; Fetus; Leucine; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Polyribosomes; Pregnancy; Protein Biosynthesis; Rats; Rats, Inbred Strains; Urea

1986
Preliminary support for the oral administration of valine, isoleucine and leucine for phenylketonuria.
    Developmental medicine and child neurology, 1985, Volume: 27, Issue:1

    Topics: Adolescent; Adult; Child; Cognition; Drug Therapy, Combination; Electroencephalography; Humans; Isoleucine; Learning; Leucine; Neuropsychological Tests; Phenylketonurias; Psychomotor Performance; Valine

1985
[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
[Dietetics in hereditary enzyme deficiencies].
    La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris, 1970, Feb-26, Volume: 46, Issue:10

    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
[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
[Amino acid imbalance as a pathogenetic factor in mental retardation (author's transl)].
    Klinische Wochenschrift, 1974, May-15, Volume: 52, Issue:6

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain Chemistry; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Intellectual Disability; Leucine; Methionine; Phenylalanine; Phenylketonurias; Rats; Tyrosine; Valine

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
[Results of screening studies for phenylketonuria, maple syrup disease and homocystinuria using Guthrie's test].
    Kinderarztliche Praxis, 1973, Volume: 41, Issue:5

    Topics: Germany, East; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Mass Screening; Methionine; Methods; Phenylalanine; Phenylketonurias

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
Transport and incorporation of labeled compounds in experimental phenylketonuric rats.
    Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1973, Volume: 144, Issue:2

    Topics: Amino Acids; Animals; Brain; Carbon Radioisotopes; Cyclopentanes; Glucose; Glutamates; Humans; Leucine; Lipids; Methylglycosides; Nerve Tissue Proteins; Phenylketonurias; Rats; Tritium

1973
[Isotope use in the study of hereditary metabolic diseases].
    Monatsschrift fur Kinderheilkunde, 1970, Volume: 118, Issue:6

    Topics: Animals; Autoradiography; Blood Glucose; Brain Chemistry; Carbon Isotopes; Chromatography, Paper; Deficiency Diseases; Feces; Galactose; Glucokinase; Glucose; Glycosuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Leucine; Malabsorption Syndromes; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Radioisotope Dilution Technique; Radioisotopes; Rats; Tritium

1970
[Rapid separation of aromatic and ramified amino acids by chromatography on ion exchange columns. Application to the surveillance of leucinosis and hyperphenylalaninemia].
    Revue europeenne d'etudes cliniques et biologiques. European journal of clinical and biological research, 1972, Volume: 17, Issue:2

    Topics: Amino Acids; Chromatography, Ion Exchange; Humans; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Methods; Phenylalanine; Phenylketonurias; Tyrosine; Valine

1972
Protein synthesis in human leucocytes. IV. Mutual inhibition of amino acid incorporation by amino acids in cell suspensions and cell-free systems.
    Hoppe-Seyler's Zeitschrift fur physiologische Chemie, 1972, Volume: 353, Issue:5

    Topics: Amino Acids; Blood Proteins; Cell Membrane; Cell-Free System; Humans; Leucine; Leukocytes; Palatine Tonsil; Phenylalanine; Phenylketonurias; Ribosomes; RNA, Messenger; RNA, Transfer; Tritium

1972
A variant form of branched-chain keto aciduria.
    Acta paediatrica Scandinavica, 1971, Volume: 60, Issue:5

    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
[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
Effect of phenylalanine on protein synthesis in the developing rat brain.
    The Biochemical journal, 1970, Volume: 117, Issue:2

    Topics: Acetates; Age Factors; Animals; Brain; Carbon Isotopes; Female; Glycine; Humans; Intellectual Disability; Leucine; Male; Methionine; Myelin Sheath; Phenylalanine; Phenylketonurias; Protein Biosynthesis; Rats; Sulfur Isotopes

1970
[Experiences with a new amino acid analyzer for a rapid analysis].
    Monatsschrift fur Kinderheilkunde, 1970, Volume: 118, Issue:6

    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
[Thin-layer chromatographic diagnosis of phenylketonuria].
    Deutsche medizinische Wochenschrift (1946), 1968, Aug-16, Volume: 93, Issue:33

    Topics: Chromatography, Thin Layer; Fluorometry; Humans; Isoleucine; Leucine; Phenylalanine; Phenylketonurias; Tyrosine; Valine

1968