Page last updated: 2024-10-16

carnitine and Glycogen Storage Disease Type I

carnitine has been researched along with Glycogen Storage Disease Type I in 3 studies

Glycogen Storage Disease Type I: An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19901 (33.33)18.7374
1990's1 (33.33)18.2507
2000's0 (0.00)29.6817
2010's1 (33.33)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Rossi, A1
Ruoppolo, M1
Formisano, P1
Villani, G1
Albano, L1
Gallo, G1
Crisci, D1
Moccia, A1
Parenti, G1
Strisciuglio, P1
Melis, D1
Gilly, R1
Carrier, H1
Lamit, J1
Holton, JB1
Allen, JT1
Green, CA1
Partington, S1
Gilbert, RE1
Berry, PJ1

Other Studies

3 other studies available for carnitine and Glycogen Storage Disease Type I

ArticleYear
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
    Journal of inherited metabolic disease, 2018, Volume: 41, Issue:6

    Topics: Acids; Adolescent; Adult; Antiporters; Biomarkers; Carnitine; Case-Control Studies; Child; Child, Pr

2018
[Congenital myopathy with lipid and glycogen overload of muscle fiber and partial deficit of carnitine].
    Annales de pediatrie, 1980, Volume: 27, Issue:5

    Topics: Carnitine; Glycogen Storage Disease; Glycogen Storage Disease Type I; Humans; Infant; Lipidoses; Mal

1980
Inherited metabolic diseases in the sudden infant death syndrome.
    Archives of disease in childhood, 1991, Volume: 66, Issue:11

    Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Carnitine; Child, Preschool; Female; Glycogen Stora

1991