proline and CBS Deficiency

proline has been researched along with CBS Deficiency in 14 studies

Research

Studies (14)

TimeframeStudies, this research(%)All Research%
pre-199013 (92.86)18.7374
1990's0 (0.00)18.2507
2000's1 (7.14)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Geladze, NM; Khachapuridze, NS; Mindadze, AB; Pulariani, TD1
Meister, A; Wellner, D1
Milner, RD; Wirdnam, PK1
Greco, GM; Magli, A1
Frimpter, GW1
Reavey, PC; Yadav, GC1
Komrower, GM1
Ampola, MG1
Kroll, S; Toussaint, W; Zebisch, P2
Ampola, MG; Efron, ML1
Menne, F1
Knoll, E; Scheibenreiter, S; Schmierer, G; Schön, R; Thalhammer, O1
Gjessing, LR; Seip, M; Vellan, EJ1

Reviews

5 review(s) available for proline and CBS Deficiency

ArticleYear
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; Cystinosis; Female; Glutathione; Glycine; Homocystinuria; Humans; Hydroxyproline; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Phenylalanine; Proline; Serine; Tyrosine; Urea; Valine

1981
[Eye manifestations of amino acid disorders].
    Minerva pediatrica, 1978, May-31, Volume: 30, Issue:10

    Topics: Alanine; Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Child; Cystinosis; Cystinuria; Eye Diseases; Eye Manifestations; Glycine; Hartnup Disease; Hepatolenticular Degeneration; Homocystinuria; Humans; Lysine; Oculocerebrorenal Syndrome; Oxidoreductases; Phenylketonurias; Proline; Pyruvates

1978
Phenylketonuria and other disorders of amino acid metabolism.
    Pediatric clinics of North America, 1973, Volume: 20, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Counseling; Cystathionine; Cystinosis; Cystinuria; Diet Therapy; Dietary Proteins; Family; Female; Hartnup Disease; Histidine; Homocystinuria; Humans; Hyperglycemia; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Ornithine; Phenylketonurias; Pregnancy; Proline; Tyrosine

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; Hydroxyproline; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Tyrosine

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; Histidine; Homocystinuria; Humans; Hydroxyproline; Intellectual Disability; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Sarcosine; Succinates; Transferases; Tryptophan; Valine

1968

Other Studies

9 other study(ies) available for proline and CBS Deficiency

ArticleYear
[Peculiarities of epileptic syndrome in children with metabolic disorders of nervous system].
    Georgian medical news, 2005, Issue:128

    Topics: Brain; Child, Preschool; Electroencephalography; Epilepsy; Homocystinuria; Humans; Infant; Intellectual Disability; Metabolic Syndrome; Methylmalonic Acid; Phenylketonurias; Proline

2005
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
Sulfur amino acids, hyperglycinemia, and certain possibly benign conditions.
    Clinics in perinatology, 1976, Volume: 3, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Cystathionine; Diagnosis, Differential; Disulfides; Glycine; Hartnup Disease; Histidine; Histidine Ammonia-Lyase; Homocystinuria; Humans; Methionine; Proline; Sulfites

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; Cystinuria; Female; Glycine; Homocystinuria; Humans; Infant; Infant, Newborn; Kuwait; Male; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Proline; Tyrosine

1988
The philosophy and practice of screening for inherited diseases.
    Pediatrics, 1974, Volume: 53, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Child; Child, Preschool; Chromatography, Paper; Chromosome Aberrations; Clinical Enzyme Tests; Costs and Cost Analysis; Down Syndrome; Female; Genetic Counseling; Genetic Diseases, Inborn; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Karyotyping; Male; Mass Screening; Phenylketonurias; Philosophy, Medical; Pregnancy; Prenatal Diagnosis; Proline; Sex Determination Analysis

1974
[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; Cystinosis; Diagnosis, Differential; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Maple Syrup Urine Disease; Methods; Methylmalonic Acid; Phenylketonurias; Proline; Propionates; Tyrosine

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 Laboratory Techniques; Cystathionine; Cystinosis; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Maple Syrup Urine Disease; Methods; Methylmalonic Acid; Phenylketonurias; Proline; Propionates; Tyrosine

1972
[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 Therapy; Economics, Medical; Follow-Up Studies; Galactosemias; Glycine; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Metal Metabolism, Inborn Errors; Multiphasic Screening; Phenylketonurias; Proline; Time Factors; Tyrosine

1972
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