Page last updated: 2024-08-21

carnosine and Amino Acid Metabolism Disorders, Inborn

carnosine has been researched along with Amino Acid Metabolism Disorders, Inborn in 11 studies

Research

Studies (11)

TimeframeStudies, this research(%)All Research%
pre-19906 (54.55)18.7374
1990's2 (18.18)18.2507
2000's2 (18.18)29.6817
2010's1 (9.09)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Caraci, F; Caruso, G; Jolivet, RB1
Gibson, KM; Pearl, PL1
Homolka, J; Hyánek, J; Kubík, M; Simková, M; Wadman, SK; Zeman, J1
Fleisher, LD; Rassin, DK; Salwen, HR; Wisniewski, K1
Chapoy, P; Charvet, J; Leininger, ML; Louchet, E; Vovan, L1
Gibson, KM; Jaeken, J; Jakobs, C1
Hamajima, N; Wada, Y1
Matsumura, R1
Burgess, EA; Levin, B; Oberholzer, VG; Palmer, T1
Berstad, J; Gjesdahl, P; Gjessing, L; Sjaastad, O1
Gjessing, LR; Sjaastad, O1

Reviews

5 review(s) available for carnosine and Amino Acid Metabolism Disorders, Inborn

ArticleYear
Pivotal role of carnosine in the modulation of brain cells activity: Multimodal mechanism of action and therapeutic potential in neurodegenerative disorders.
    Progress in neurobiology, 2019, Volume: 175

    Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Brain Diseases, Metabolic, Inborn; Carnosine; Dipeptidases; Humans; Neurodegenerative Diseases

2019
Clinical aspects of the disorders of GABA metabolism in children.
    Current opinion in neurology, 2004, Volume: 17, Issue:2

    Topics: 4-Aminobutyrate Transaminase; Aldehyde Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Brain; Carnosine; Child; Developmental Disabilities; Diagnosis, Differential; Epilepsy; gamma-Aminobutyric Acid; Glutamate Decarboxylase; Humans; Magnetic Resonance Imaging; Phenotype; Pyridoxal Phosphate; Pyridoxine; Succinate-Semialdehyde Dehydrogenase

2004
Inherited disorders of GABA metabolism.
    Journal of inherited metabolic disease, 1993, Volume: 16, Issue:4

    Topics: 4-Aminobutyrate Transaminase; Aldehyde Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Carnosine; Dipeptidases; gamma-Aminobutyric Acid; Glutamate Decarboxylase; Humans; Succinate-Semialdehyde Dehydrogenase

1993
[Serum carnosinase deficiency and homocarnosinosis].
    Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1

    Topics: Amino Acid Metabolism, Inborn Errors; Animals; Carnosine; Diagnosis, Differential; Dipeptidases; Humans; Prognosis

1998
[Carnosinemia].
    Ryoikibetsu shokogun shirizu, 2000, Issue:29 Pt 4

    Topics: Amino Acid Metabolism, Inborn Errors; Carnosine; Humans; Psychomotor Disorders; Seizures

2000

Other Studies

6 other study(ies) available for carnosine and Amino Acid Metabolism Disorders, Inborn

ArticleYear
[Carnosinemia (author's transl)].
    Casopis lekaru ceskych, 1981, Jul-02, Volume: 120, Issue:26

    Topics: Amino Acid Metabolism, Inborn Errors; Carnosine; Dipeptides; Humans; Infant, Newborn; Male

1981
Carnosinase deficiency: a new variant with high residual activity.
    Pediatric research, 1980, Volume: 14, Issue:4 Pt 1

    Topics: Amino Acid Metabolism, Inborn Errors; Anserine; Carnosine; Child; Dipeptidases; Dipeptides; Humans; Intellectual Disability; Male; Seizures

1980
[Carnosinemia. First French case].
    Pediatrie, 1980, Volume: 35, Issue:4

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Carnosine; Dipeptides; Humans; Male

1980
Plasma carnosinase deficiency in patients with urea cycle defects.
    Clinica chimica acta; international journal of clinical chemistry, 1975, Jun-02, Volume: 61, Issue:2

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Carbamyl Phosphate; Carnosine; Child; Child, Preschool; Diet, Vegetarian; Dipeptidases; Glutamine; Humans; Infant; Urea

1975
Homocarnosinosis. 2. A familial metabolic disorder associated with spastic paraplegia, progressive mental deficiency, and retinal pigmentation.
    Acta neurologica Scandinavica, 1976, Volume: 53, Issue:4

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Carnosine; Dipeptides; Female; Humans; Intellectual Disability; Male; Paraplegia; Retinitis Pigmentosa

1976
Letter: Homocarnosinosis: a new metabolic disorder associated with spasticity and mental retardation.
    Lancet (London, England), 1974, Oct-26, Volume: 2, Issue:7887

    Topics: Adult; Age Factors; Amino Acid Metabolism, Inborn Errors; Carnosine; Cerebrospinal Fluid; Chromatography; Dipeptides; Female; Humans; Intellectual Disability; Muscle Spasticity

1974