Page last updated: 2024-10-20

pteridines and Homocystinuria

pteridines has been researched along with Homocystinuria in 3 studies

Homocystinuria: Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19901 (33.33)18.7374
1990's2 (66.67)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Habbal, ZM1
Touma, EH1
Vion-Dury, J1
Salvan, AM1
Confort-Gouny, S1
Cozzone, PJ1
Frézal, J1

Other Studies

3 other studies available for pteridines and Homocystinuria

ArticleYear
Positive interference from homocystinuria urine in a spot test for molybdenum cofactor deficiency.
    Clinical chemistry, 1995, Volume: 41, Issue:7

    Topics: Child; Coenzymes; False Positive Reactions; Homocystinuria; Humans; Male; Metalloproteins; Molybdenu

1995
Atlas of brain proton magnetic resonance spectra. Part II: Inherited metabolic encephalopathies.
    Journal of neuroradiology = Journal de neuroradiologie, 1998, Volume: 25, Issue:4

    Topics: Adipates; Adult; Anatomy, Artistic; Argininosuccinic Acid; Argininosuccinic Aciduria; Brain; Brain D

1998
Medical physiopathology, enzymology and diagnosis.
    Monographs in human genetics, 1972, Volume: 6

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Homocystinuria; Humans; Intellectual Disability; Mapl

1972