leucine and CBS Deficiency

leucine has been researched along with CBS Deficiency in 13 studies

Research

Studies (13)

TimeframeStudies, this research(%)All Research%
pre-19908 (61.54)18.7374
1990's3 (23.08)18.2507
2000's1 (7.69)29.6817
2010's1 (7.69)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Manoli, I; Myles, JG; Venditti, CP1
Banerjee, R; Gherasim, C; Rosenblatt, DS1
Berio, A1
Adam, BW; Chace, DH; Hillman, SL; Kahler, SG; Levy, HL; Millington, DS1
Bellisario, R; Pass, KA; Reilly, AA1
Guthrie, R; Jinks, DC; Vollmer, DW1
Royer, P1
Brissaud, HE1
Levy, HL1
Machill, G1
Steuer, W1
Hagge, W; Irtel von Brenndorff, A1

Reviews

2 review(s) available for leucine and CBS Deficiency

ArticleYear
Effects of medical food leucine content in the management of methylmalonic and propionic acidemias.
    Current opinion in clinical nutrition and metabolic care, 2018, Volume: 21, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Animals; Deficiency Diseases; Diet, Protein-Restricted; Foods, Specialized; Homocystinuria; Humans; Isoleucine; Leucine; Propionic Acidemia; Valine; Vitamin B 12 Deficiency

2018
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

Other Studies

11 other study(ies) available for leucine and CBS Deficiency

ArticleYear
Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation.
    Human mutation, 2007, Volume: 28, Issue:10

    Topics: Escherichia coli; Ferredoxin-NADP Reductase; Flavins; Homocystinuria; Humans; Kinetics; Leucine; Methionine; Models, Molecular; Mutation; Phenotype; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Serine; Valine

2007
[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
Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry.
    Clinical chemistry, 1996, Volume: 42, Issue:3

    Topics: Blood Specimen Collection; Chromatography, High Pressure Liquid; Homocystinuria; Humans; Infant, Newborn; Isoleucine; Leucine; Mass Spectrometry; Metabolism, Inborn Errors; Methionine; Neonatal Screening; Paper; Sensitivity and Specificity

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
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
[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
[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
[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
[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