Page last updated: 2024-10-31

apnea and Homocystinuria

apnea has been researched along with Homocystinuria in 2 studies

Apnea: A transient absence of spontaneous respiration.

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 (2)

TimeframeStudies, this research(%)All Research%
pre-19901 (50.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (50.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Cerbo, RM1
Cabano, R1
Lombardi, G1
Bollani, L1
Colombo, R1
Stronati, M1
Wada, Y1
Narisawa, K1
Arakawa, T1

Other Studies

2 other studies available for apnea and Homocystinuria

ArticleYear
From apneic spells to the development of hypertensive hydrocephalus: a case report of homocystinuria with early onset.
    Journal of child neurology, 2010, Volume: 25, Issue:3

    Topics: Age of Onset; Apnea; Brain; Child, Preschool; Diagnosis, Differential; Disease Progression; Female;

2010
Infantile type of homocystinuria with 5,10-methylenetetrahydrofolate reductase deficiency.
    Monographs in human genetics, 1978, Volume: 9

    Topics: Apnea; Brain; Consanguinity; Female; Genes, Recessive; Genetic Carrier Screening; Homocystinuria; Ho

1978