Page last updated: 2024-10-16

carnitine and Citrullinemia

carnitine has been researched along with Citrullinemia in 1 studies

Citrullinemia: A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's1 (100.00)2.80

Authors

AuthorsStudies
Lin, Y1
Lin, W1
Chen, Y1
Lin, C1
Zheng, Z1
Zhuang, J1
Fu, Q1

Other Studies

1 other study available for carnitine and Citrullinemia

ArticleYear
Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn.
    BMC pediatrics, 2020, 10-13, Volume: 20, Issue:1

    Topics: Cardiomyopathies; Carnitine; China; Cholestasis, Intrahepatic; Citrullinemia; Humans; Hyperammonemia

2020