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)
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 1 (33.33) | 18.7374 |
1990's | 2 (66.67) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Habbal, ZM | 1 |
Touma, EH | 1 |
Vion-Dury, J | 1 |
Salvan, AM | 1 |
Confort-Gouny, S | 1 |
Cozzone, PJ | 1 |
Frézal, J | 1 |
3 other studies available for pteridines and Homocystinuria
Article | Year |
---|---|
Positive interference from homocystinuria urine in a spot test for molybdenum cofactor deficiency.
Topics: Child; Coenzymes; False Positive Reactions; Homocystinuria; Humans; Male; Metalloproteins; Molybdenu | 1995 |
Atlas of brain proton magnetic resonance spectra. Part II: Inherited metabolic encephalopathies.
Topics: Adipates; Adult; Anatomy, Artistic; Argininosuccinic Acid; Argininosuccinic Aciduria; Brain; Brain D | 1998 |
Medical physiopathology, enzymology and diagnosis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Homocystinuria; Humans; Intellectual Disability; Mapl | 1972 |