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glycine and BCKD Deficiency

glycine has been researched along with BCKD Deficiency in 26 studies

Research Excerpts

ExcerptRelevanceReference
" Maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) represent the most commonly encountered abnormal organic acidurias."4.81Branched-chain organic acidurias. ( Ogier de Baulny, H; Saudubray, JM, 2002)
"N-Lactylvaline, N-lactylleucine, N-lactylisoleucine and the N-2-hydroxyisovaleryl conjugates of glycine, valine, leucine and isoleucine have been identified in urine from a patient with the intermediate type of maple syrup urine disease."3.67New conjugated urinary metabolites in intermediate type maple syrup urine disease. ( Hagenfeldt, L; Naglo, AS, 1987)
" The patients suffered from distinct variants of maple syrup urine disease, propionic acidaemia, methylmalonic acidaemia, lactic acidosis and hyperglycinuria."3.66[Human fibroblast bank for studying amino acid disorders and organic acidemias]. ( del Valle, JA; Merinero, B; Pérez-Cerdá, C; Ugarte, M, 1982)
"Leucine metabolism in cultured skin fibroblasts from patients with isovaleric acidemia was compared with that in normal fibroblasts and in cells from patients with maple syrup urine disease using [1-(14)C] and [2-(14)C] leucine as substrates."3.65Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects. ( Mandell, R; Shih, VE; Tanaka, K, 1976)
"Neonatal seizures, as distinguished from nonconvulsive abnormal movements, are a significant problem in neonatal intensive care units."2.37Neonatal seizures. ( Bergman, I; Crumrine, P; Painter, MJ, 1986)

Research

Studies (26)

TimeframeStudies, this research(%)All Research%
pre-199024 (92.31)18.7374
1990's0 (0.00)18.2507
2000's2 (7.69)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
EFRON, ML3
YOUNG, D1
MOSER, HW1
MACCREADY, RA1
Brautigam, CA1
Chuang, JL1
Tomchick, DR1
Machius, M1
Chuang, DT1
Wellner, D1
Meister, A1
del Valle, JA1
Merinero, B1
Pérez-Cerdá, C1
Ugarte, M1
Ogier de Baulny, H1
Saudubray, JM1
Brady, RO1
Omenn, GS1
Tanaka, K1
Mandell, R1
Shih, VE1
Ota, K1
Yadav, GC1
Reavey, PC1
Painter, MJ1
Bergman, I1
Crumrine, P1
Hagenfeldt, L1
Naglo, AS1
Levy, HL2
Frimpter, GW1
Martin, JJ1
Schlote, W1
Kroll, S2
Zebisch, P2
Toussaint, W2
Tomaszewski, L1
Ampola, MG1
Menne, F1
Lebedev, VP1
Iur'eva, EA1
Mukhina, IuG1
Buravina, TA1
Koroleva, IA1
Thalhammer, O1
Scheibenreiter, S1
Schön, R1
Knoll, E1
Schmierer, G1
Barkin, E1
Sietti, C1
Raven, EJ1

Reviews

11 reviews available for glycine and BCKD 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

1965
A survey of inborn errors of amino acid metabolism and transport in man.
    Annual review of biochemistry, 1981, Volume: 50

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Branched-Chain; Biological Transport

1981
Branched-chain organic acidurias.
    Seminars in neonatology : SN, 2002, Volume: 7, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Diagnosis, Differential; Glycine;

2002
Inborn errors of metabolism: clues to understanding human behavioral disorders.
    Behavior genetics, 1976, Volume: 6, Issue:3

    Topics: Adrenal Hyperplasia, Congenital; Brain; Galactosemias; Glycine; Hepatolenticular Degeneration; Heter

1976
[Vitamin dependency].
    Horumon to rinsho. Clinical endocrinology, 1975, Volume: 23, Issue:9

    Topics: Anemia, Sideroblastic; Animals; Biotin; Crotonates; Cystathionine; gamma-Aminobutyric Acid; Glutamat

1975
Neonatal seizures.
    Pediatric clinics of North America, 1986, Volume: 33, Issue:1

    Topics: Adrenoleukodystrophy; Amino Acid Metabolism, Inborn Errors; Ammonia; Anesthetics, Local; Anticonvuls

1986
Genetic screening.
    Advances in human genetics, 1973, Volume: 4

    Topics: Amino Acid Metabolism, Inborn Errors; Anemia, Sickle Cell; Arginine; Carbohydrate Metabolism, Inborn

1973
Aminoacidurias due to inherited disorders of metabolism. 2.
    The New England journal of medicine, 1973, Oct-25, Volume: 289, Issue:17

    Topics: Acidosis; Alanine; Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Carbamates; Citrulline;

1973
The aminoacidurias.
    Pediatric clinics of North America, 1967, Volume: 14, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; H

1967
[Feeble mindedness caused by genetic disorders of amino acid metabolism].
    Hippokrates, 1968, May-31, Volume: 39, Issue:10

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Glycine; Hartnup Disease; Histi

1968
[Primary and secondary hyperaminoaciduria in children (review of the literature)].
    Voprosy okhrany materinstva i detstva, 1970, Volume: 15, Issue:11

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Biological Transport, Active; Cystinuria; Fanconi

1970

Other Studies

15 other studies available for glycine and BCKD Deficiency

ArticleYear
A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER.
    The New England journal of medicine, 1964, Jun-25, Volume: 270

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Chemical Analysis; Chromatography; Citrulli

1964
Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations.
    Journal of molecular biology, 2005, Jul-15, Volume: 350, Issue:3

    Topics: Binding Sites; Catalysis; Cloning, Molecular; Crystallography, X-Ray; Databases, Protein; Dihydrolip

2005
[Human fibroblast bank for studying amino acid disorders and organic acidemias].
    Revista espanola de fisiologia, 1982, Volume: 38 Suppl

    Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Cell Line; Cells, Cultured; Child; Child, Preschool;

1982
Inherited metabolic diseases of the nervous system.
    Science (New York, N.Y.), 1976, Aug-27, Volume: 193, Issue:4255

    Topics: Amino Acid Metabolism, Inborn Errors; Aspartylglucosaminuria; Carbohydrate Metabolism, Inborn Errors

1976
Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects.
    The Journal of clinical investigation, 1976, Volume: 58, Issue:1

    Topics: 2-Methyl-4-chlorophenoxyacetic Acid; Amino Acid Metabolism, Inborn Errors; Carbon Dioxide; Cell Line

1976
Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital.
    Journal of inherited metabolic disease, 1988, Volume: 11, Issue:3

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Citrulline;

1988
New conjugated urinary metabolites in intermediate type maple syrup urine disease.
    Clinica chimica acta; international journal of clinical chemistry, 1987, Oct-30, Volume: 169, Issue:1

    Topics: Amino Acids; Amino Acids, Branched-Chain; Carboxylic Acids; Female; Gas Chromatography-Mass Spectrom

1987
Neuropathological study of aminoacidurias.
    Monographs in human genetics, 1972, Volume: 6

    Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Central Nervous System; Cystathionine; Female; Gl

1972
[Hereditary amino acid metabolism disorders. Indications for early diagnosis].
    Fortschritte der Medizin, 1972, Apr-13, Volume: 90, Issue:11

    Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cystathionine;

1972
[Diagnosis of inborn amino acid metabolism errors. Important symptoms and laboratory methods].
    Fortschritte der Medizin, 1972, Apr-13, Volume: 90, Issue:11

    Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Clinical Labora

1972
[The inborn errors of metabolism of amino acids].
    Postepy biochemii, 1973, Volume: 19, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chemical Phenomena; Chemistry; Cystinuria; Glycin

1973
[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 Th

1972
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 Transp

1971
[Paper chromatography in the detection of aminoacidopathies].
    Minerva pediatrica, 1971, Dec-22, Volume: 23, Issue:51

    Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Paper; Glycine; Histidin

1971
[Progressive encephalopathy after a symptom-free period in the newborn infant, due to disorders of amino acid metabolism. Illustrated with case histories of patients with hyperglycinemia and maple syrup urine disease].
    Nederlands tijdschrift voor geneeskunde, 1969, Oct-18, Volume: 113, Issue:42

    Topics: Amino Acid Metabolism, Inborn Errors; Female; Glycine; Humans; Infant; Infant, Newborn; Infant, Newb

1969