Page last updated: 2024-08-17

cholestanol and Orphan Diseases

cholestanol has been researched along with Orphan Diseases in 1 studies

Research

Studies (1)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	0 (0.00)	29.6817
2010's	1 (100.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Balogh, I; Harangi, J; Harangi, M; Kapás, I; Katkó, M; Kovács, GG; Madar, L; Molnár, MJ; Paragh, G; Seres, I; Varga, VE	1

Reviews

1 review(s) available for cholestanol and Orphan Diseases

Article	Year
[Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis]. Orvosi hetilap, 2014, May-25, Volume: 155, Issue:21 Topics: Brain; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Clinical Laboratory Techniques; Early Diagnosis; Gas Chromatography-Mass Spectrometry; Gene Expression Regulation, Enzymologic; Genetic Testing; Global Health; Humans; Hungary; Infant, Newborn; Neonatal Screening; Rare Diseases; Tendons; Xanthomatosis, Cerebrotendinous	2014

Article

Year

[Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis].

Orvosi hetilap, 2014, May-25, Volume: 155, Issue:21

Topics: Brain; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Clinical Laboratory Techniques; Early Diagnosis; Gas Chromatography-Mass Spectrometry; Gene Expression Regulation, Enzymologic; Genetic Testing; Global Health; Humans; Hungary; Infant, Newborn; Neonatal Screening; Rare Diseases; Tendons; Xanthomatosis, Cerebrotendinous

2014