isoleucine and CBS Deficiency

isoleucine has been researched along with CBS Deficiency in 7 studies

Research

Studies (7)

TimeframeStudies, this research(%)All Research%
pre-19904 (57.14)18.7374
1990's1 (14.29)18.2507
2000's1 (14.29)29.6817
2010's1 (14.29)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Manoli, I; Myles, JG; Venditti, CP1
Balcells, S; Baldellou, A; Campistol, J; Couce, ML; Grinberg, D; Muñoz, C; Pintó, X; Rodés, M; Urreizti, R; Vilarinho, L; Vilaseca, MA1
Adam, BW; Chace, DH; Hillman, SL; Kahler, SG; Levy, HL; Millington, DS1
Royer, P1
Brissaud, HE1
Hagge, W; Irtel von Brenndorff, A1

Reviews

1 review(s) available for isoleucine 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

Other Studies

6 other study(ies) available for isoleucine and CBS Deficiency

ArticleYear
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.
    Human mutation, 2003, Volume: 22, Issue:1

    Topics: Adolescent; Adult; Amino Acid Sequence; Amino Acid Substitution; Animals; Child; Child, Preschool; Cystathionine beta-Synthase; Female; Genotype; Glycine; Homocystinuria; Humans; Infant; Isoleucine; Male; Methionine; Middle Aged; Molecular Sequence Data; Phenotype; Portugal; Prevalence; Serine; Spain; Threonine

2003
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
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
[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
[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