共 144 条
[1]
Corso G(2017)Liver and the defects of cholesterol and bile acids biosynthesis: rare disorders many diagnostic pitfalls World J Gastroenterol 23 5257-5265
[2]
Dello Russo A(2000)Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis Arch Neurol 57 520-524
[3]
Gelzo M(2014)A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis J Inherit Metab Dis 37 421-429
[4]
Verrips A(2014)Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management Orphanet J Rare Dis 27 143-149
[5]
van Engelen BG(2006)Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene Neurol Sci 49 2039-2046
[6]
Wevers RA(2011)Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: a six-year experience Clin Chem Lab Med 907 154-158
[7]
van Geel BM(2012)A routine method for cholesterol and 7-dehydrocholesterol analysis in dried blood spot by GC-FID to diagnose the Smith-Lemli-Opitz syndrome J Chromatogr B Analyt Technol Biomed Life Sci 31 1185-1188
[8]
Cruysberg JR(2016)Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports Metab Brain Dis 7 15282-424
[9]
van den Heuvel LP(2017)Identification and in vitro characterization of two new PCSK9 gain of function variants found in patients with Familial Hypercholesterolemia Sci Rep 17 405-304
[10]
Keyser A(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med 116 298-781