Page last updated: 2024-08-17

methionine and BH4 Deficiency

methionine has been researched along with BH4 Deficiency in 53 studies

Research

Studies (53)

TimeframeStudies, this research(%)All Research%
pre-199045 (84.91)18.7374
1990's3 (5.66)18.2507
2000's1 (1.89)29.6817
2010's2 (3.77)24.3611
2020's2 (3.77)2.80

Authors

AuthorsStudies
Alvarez, JA; Cui, X; Ramakrishnan, U; Schoen, MS; Singh, RH; Ziegler, TR1
Cao, Z; Kong, Y; Li, T; Liu, W; Ma, Z; Rosenbaum, ER; Song, B; Wan, Z; Yue, X; Zhai, Y1
Soloway, AH; Soloway, PD; Warner, VD1
Aldámiz-Echevarría, L; Couce, ML; Fernández-Marmiesse, A; Hermida, A; Leis, R; Llarena, M; Roca, I; Sánchez-Pintos, P; Vitoria, I1
Artuch, R; Brandi, N; Campistol, J; Colomé, C; Lambruschini, N; Sierra, C; Vilaseca, MA1
Boger, WP; Gavin, JJ; McClelland, J1
Efron, ML1
Tamimie, HS2
Benevenga, NJ; Steele, RD1
Milner, RD; Wirdnam, PK1
Berger, G; Charpentier, C; Comar, D; Delforge, J; Duthilleul, A; Maziere, M; Saudubray, JM; Todd-Pokropek, A1
Nagao, M1
Hughes, JV; Johnson, TC1
Broquist, HP1
Kitagawa, T1
Gaull, GE1
Cooper, BA1
Centerwall, WR; Chinnock, RF; Goodman, SI; Mace, JW1
Guthrie, R; Jinks, DC; Vollmer, DW1
Hyland, K; Surtees, R1
Gehrmann, J; Neuhoff, V; Schott, K1
Lutz, P1
Donnell, GN; Koch, R; Lieberman, E; Shaw, KN1
Royer, P1
Fekete, G1
Perrone, L1
Frimpter, GW1
Levy, HL1
Tomaszewski, L1
Machill, G1
Oldendorf, WH1
Ampola, MG; Efron, ML1
Alpers, DH; Thier, SO1
Menne, F1
Barbesier, J; Boisse, J; Charpentier, C; Lemonnier, A; Mozziconacci, P1
Podhradská, O1
Hagge, W1
Andrews, WA; Cooke, JR; Mahon, DF; Raine, DN1
Rey, F; Rey, J; Sivy, M1
Oldendorf, WH; Silverstein, A; Sisson, BW1
Barkin, E; Levy, HL1
van der Horst, JL; Wadman, SK1
Clayton, BE1
Raine, DN1
Agrawal, HC; Bone, AH; Davison, AN1
Hagge, W; Irtel von Brenndorff, A1
Oldendorf, WH; Sisson, WB1
Adam, E; Dautrevaux, M; Farriaux, JP; Fontaine, G; Gosselin, B1
Gjessing, LR; Seip, M; Vellan, EJ1
Gershon, ES; Shader, RI1

Reviews

10 review(s) available for methionine and BH4 Deficiency

ArticleYear
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
[Molecular pathology and DNA diagnosis of phenylketonuria and hypermethioninemia].
    Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1998, Volume: 43, Issue:6

    Topics: Amino Acid Metabolism, Inborn Errors; DNA; Gene Expression Regulation, Enzymologic; Genetic Therapy; Humans; Infant, Newborn; Mass Screening; Methionine; Methionine Adenosyltransferase; Mutation; Phenylalanine Hydroxylase; Phenylketonurias; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length

1998
Amino acid metabolism.
    Nutrition reviews, 1976, Volume: 34, Issue:10

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Biological Transport, Active; Carnitine; Corynebacterium; Glutamates; Humans; Keto Acids; Lysine; Methionine; Methylmalonic Acid; Neurospora crassa; Phenylketonurias; Plants; Protein Biosynthesis; Protein O-Methyltransferase; Taurine; Vitamin B Complex

1976
Megaloblastic anaemia and disorders affecting utilisation of vitamin B12 and folate in childhood.
    Clinics in haematology, 1976, Volume: 5, Issue:3

    Topics: Adolescent; Adult; Anemia, Hemolytic; Anemia, Macrocytic; Anemia, Megaloblastic; Anemia, Pernicious; Biological Transport; Bone Marrow; Bone Marrow Cells; Child; Child, Preschool; Female; Folic Acid; Folic Acid Deficiency; Homocystinuria; Humans; Infant; Intrinsic Factor; Malabsorption Syndromes; Male; Metabolism, Inborn Errors; Methionine; Methionine Adenosyltransferase; Orotic Acid; Phenylketonurias; Tetrahydrofolate Dehydrogenase; Transcobalamins; Vitamin B 12

1976
Aminoacidurias due to inherited disorders of metabolism (first of two parts).
    The New England journal of medicine, 1973, Oct-18, Volume: 289, Issue:16

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Cystathionine; Cysteine; Cystine; Disulfides; Female; Homocystinuria; Humans; Infant, Newborn; Lactates; Male; Methionine; Oxidoreductases; Phenylalanine; Phenylketonurias; Pregnancy; Pyruvates; Sulfhydryl Compounds; Sulfites; Sulfur; 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
Disorders of intestinal transport of amino acids.
    American journal of diseases of children (1960), 1969, Volume: 117, Issue:1

    Topics: Amino Acids; Arginine; Carbohydrate Metabolism, Inborn Errors; Cystinuria; Fructose; Galactosemias; Genes, Recessive; Glycine; Hartnup Disease; Humans; Intestinal Absorption; Lysine; Methionine; Phenylketonurias; Proline; Renal Tubular Transport, Inborn Errors; Tryptophan

1969
[Feeble mindedness caused by genetic disorders of amino acid metabolism].
    Hippokrates, 1968, May-31, Volume: 39, Issue:10

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Hydroxyproline; Intellectual Disability; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Sarcosine; Succinates; Transferases; Tryptophan; Valine

1968
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

Other Studies

43 other study(ies) available for methionine and BH4 Deficiency

ArticleYear
Characterization of Choline Nutriture among Adults and Children with Phenylketonuria.
    Nutrients, 2022, Sep-29, Volume: 14, Issue:19

    Topics: Adult; Child; Choline; Female; Folic Acid; Humans; Methionine; Nutrition Surveys; Phenylalanine; Phenylketonurias; Pregnancy; Vitamin B 12; Vitamins

2022
Benchmark Examination of Blood Amino Acids Patterns in Phenylketonuria Neonates and Young Children on Phenylalanine-Restricted Dietary Treatment.
    Fetal and pediatric pathology, 2022, Volume: 41, Issue:3

    Topics: Arginine; Benchmarking; Child; Child, Preschool; Citrulline; Diet; Humans; Infant, Newborn; Methionine; Phenylalanine; Phenylketonurias; Proline; Tyrosine; Valine

2022
Possible chemical initiators of cognitive dysfunction in phenylketonuria, Parkinson's disease and Alzheimer's disease.
    Medical hypotheses, 2013, Volume: 81, Issue:4

    Topics: Alzheimer Disease; Catechols; Cognition Disorders; Humans; Metabolic Networks and Pathways; Methionine; Models, Biological; Molecular Structure; Oxidative Stress; Parkinson Disease; Phenylalanine; Phenylketonurias; Tyrosine

2013
Lipid profile status and other related factors in patients with Hyperphenylalaninaemia.
    Orphanet journal of rare diseases, 2016, 09-09, Volume: 11, Issue:1

    Topics: Apolipoproteins A; Apolipoproteins B; Blood Pressure; C-Reactive Protein; Cholesterol; Cholesterol, HDL; Cholesterol, LDL; Coronary Disease; Cross-Sectional Studies; Female; Homocysteine; Humans; Lipids; Male; Methionine; Phenylketonurias; Risk Factors; Triglycerides; Vitamin B 12

2016
Plasma thiols and their determinants in phenylketonuria.
    European journal of clinical nutrition, 2003, Volume: 57, Issue:8

    Topics: Adolescent; Cross-Sectional Studies; Cysteine; Female; Folic Acid; Glutathione; Homocysteine; Humans; Male; Methionine; Phenylalanine; Phenylketonurias; Sulfhydryl Compounds; Vitamin B 12

2003
Phenylketonuria. 3. Measurement of multiple parameters of liver function.
    The American journal of clinical nutrition, 1967, Volume: 20, Issue:5

    Topics: Bilirubin; Cholesterol; Clinical Enzyme Tests; Humans; Isocitrate Dehydrogenase; Liver Function Tests; Methionine; Phenylalanine; Phenylketonurias; Thymol; Transaminases; Tyrosine; Vitamin B 12

1967
Diet therapy for inborn errors of amino acid metabolism.
    Journal of the American Dietetic Association, 1967, Volume: 51, Issue:1

    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
Feeding chicks high levels of L-phenylalanine and L-methionine supplemented diets in the study of experimental aspects of phenylketonuria and homocystinuria.
    Poultry science, 1967, Volume: 46, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Chemistry; Diet; Growth; Homocystinuria; Humans; Methionine; Norepinephrine; Phenylalanine; Phenylketonurias; Poultry; Serotonin

1967
Influence of niacin and L-tryptophan on the growth depressive performance of chicks fed high levels of L-phenylalanine and L-methionine.
    Life sciences, 1967, Mar-15, Volume: 6, Issue:6

    Topics: Animals; Body Weight; Diet; Growth; Homocystinuria; Humans; Methionine; Nicotinic Acids; Phenylalanine; Phenylketonurias; Poultry; Tryptophan

1967
The pancreatic beta cell fraction in children with errors of amino acid metabolism.
    Pediatric research, 1982, Volume: 16, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Child; Cystinosis; Homocystinuria; Humans; Infant; Infant, Newborn; Islets of Langerhans; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Tyrosine

1982
Brain uptake of 11C-methionine in phenylketonuria.
    European journal of pediatrics, 1981, Volume: 136, Issue:1

    Topics: Adult; Age Factors; Blood-Brain Barrier; Brain; Carbon Radioisotopes; Child, Preschool; Humans; Infant; Methionine; Phenylalanine; Phenylketonurias

1981
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
[Oast house syndrome].
    Nihon rinsho. Japanese journal of clinical medicine, 1977,Spring, Volume: 35 Suppl 1

    Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Infant, Newborn; Methionine; Phenylketonurias

1977
Inborn errors of amino acid metabolism and hereditary ataxia.
    Advances in neurology, 1978, Volume: 21

    Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinic Acid; Ataxia; Female; Fetus; Heterozygote; Homocystinuria; Homozygote; Humans; Liver; Maternal-Fetal Exchange; Methionine; Phenylketonurias; Pregnancy

1978
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
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
L-3,4-dihydroxyphenylalanine (levodopa) lowers central nervous system S-adenosylmethionine concentrations in humans.
    Journal of neurology, neurosurgery, and psychiatry, 1990, Volume: 53, Issue:7

    Topics: Adolescent; Akinetic Mutism; Biopterins; Child, Preschool; Humans; Infant; Levodopa; Methionine; NADH, NADPH Oxidoreductases; Phenylketonurias; Pyridoxine; S-Adenosylmethionine; Tetrahydrofolates; Tyrosine

1990
Biochemical and developmental features of experimental phenylketonuria induced by L-ethionine in suckling rats.
    Biochemical medicine and metabolic biology, 1989, Volume: 41, Issue:3

    Topics: Adenosine Triphosphate; Animals; Animals, Suckling; Body Weight; Brain Chemistry; Electrophoresis, Gel, Two-Dimensional; Ethionine; Liver; Male; Methionine; Organ Size; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Rats; Rats, Inbred Strains; Tryptophan

1989
[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
Cystathioninuria.
    American journal of diseases of children (1960), 1967, Volume: 113, Issue:1

    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].
    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
[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
[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
[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
[Mass screening of phenylketonuria. Report on a screening center (October 1967-December 1968)].
    La Presse medicale, 1969, Sep-13, Volume: 77, Issue:37

    Topics: Adolescent; Adult; Amino Acids; Bacteriological Techniques; Child; Child, Preschool; Chromatography, Paper; Fluorometry; France; Homocystinuria; Humans; Infant; Infant, Newborn; Mass Screening; Methionine; Phenylalanine; Phenylketonurias; Sampling Studies; Tyrosine

1969
[Therapy of phenylketonuria].
    Casopis lekaru ceskych, 1972, Volume: 111, Issue:8

    Topics: Diet Therapy; Humans; Methionine; Phenylalanine; Phenylketonurias; Tryptophan; Tyrosine

1972
[Amino acid metabolism and mental retardation].
    Die Medizinische Welt, 1972, Apr-15, Volume: 23, Issue:16

    Topics: Diet Therapy; Female; Homocystinuria; Humans; Intellectual Disability; Intelligence; Male; Methionine; Phenylalanine; Phenylketonurias; Pregnancy; Pyridoxine

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
[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
Brain uptake of selenomethionine Se 75. II. Reduced brain uptake of selenomethionine Se 75 in phenylketonuria.
    Archives of neurology, 1971, Volume: 24, Issue:6

    Topics: Blood-Brain Barrier; Brain; Humans; Injections, Intravenous; Intellectual Disability; Methionine; Phenylalanine; Phenylketonurias; Radioisotopes; Radiometry; Selenium

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
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
Experience with a screening service, using the Guthrie test, in the north-west and north-east metropolitan regions.
    Archives of disease in childhood, 1971, Volume: 46, Issue:250

    Topics: Amino Acid Metabolism, Inborn Errors; Biological Assay; Homocystinuria; Humans; Infant; Mass Screening; Methionine; Phenylalanine; Phenylketonurias; 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
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
Brain uptake of 75 Se-selenomethionine.
    Transactions of the American Neurological Association, 1970, Volume: 95

    Topics: Animals; Blood-Brain Barrier; Brain; Humans; Methionine; Pancreas; Phenylalanine; Phenylketonurias; Radioisotopes; Rats; Selenium

1970
[Difficulties in interpreting a pathological aminoaciduria].
    Acta paediatrica Belgica, 1968, Volume: 22, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Liver Diseases; Male; Methionine; Pancreatitis; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids

1968
Hair amino acids in cystinosis, homocystinuria, Fölling's disease and tyrosinosis.
    Acta paediatrica Scandinavica, 1969, Volume: 58, Issue:3

    Topics: Amino Acids; Autoanalysis; Citrulline; Cystine; Cystinosis; Female; Hair; Homocysteine; Homocystinuria; Humans; In Vitro Techniques; Male; Metabolic Diseases; Methionine; Methods; Phenylalanine; Phenylketonurias; Proline; Tyrosine

1969
Screening for aminoacidurias in psychiatric inpatients.
    Archives of general psychiatry, 1969, Volume: 21, Issue:1

    Topics: Affective Symptoms; Amino Acid Metabolism, Inborn Errors; Brain Damage, Chronic; Depression; Drug Synergism; Hartnup Disease; Homocystinuria; Hospitals, Psychiatric; Humans; Intellectual Disability; Mass Screening; Massachusetts; Mental Disorders; Methionine; Monoamine Oxidase Inhibitors; Neurotic Disorders; Personality Disorders; Phenylketonurias; Schizophrenia; Substance-Related Disorders; Tryptophan

1969