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Diagnosis and management of familial dyslipoproteinemias.
Kwiterovich PO Jr. Kwiterovich PO Jr. Curr Cardiol Rep. 2013 Jun;15(6):371. doi: 10.1007/s11886-013-0371-5. Curr Cardiol Rep. 2013. PMID: 23666884 Review.
These include FH, FDB, ARH, PCSK9 gain-of-function mutations, sitosterolemia and loss of 7 alpha hydroxylase. Hepatic overproduction of VLDL occurs in FCHL, hyperapoB, LDL subclass pattern B, FDH and syndrome X, often due to insulin resistance and resulting in high TG, ele …
These include FH, FDB, ARH, PCSK9 gain-of-function mutations, sitosterolemia and loss of 7 alpha hydroxylase. Hepatic overproduction …
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia.
Xia Y, Duan Y, Zheng W, Liang L, Zhang H, Luo X, Gu X, Sun Y, Xiao B, Qiu W. Xia Y, et al. J Clin Lipidol. 2022 Jan-Feb;16(1):40-51. doi: 10.1016/j.jacl.2021.11.015. Epub 2021 Dec 6. J Clin Lipidol. 2022. PMID: 34969652
OBJECTIVE: To describe and compare the clinical, biochemical, genetic, therapeutic, and follow-up characteristics of 55 pediatric and five adult sitosterolemia patients. ...CONCLUSIONS: This study expands the clinical and genetic spectra of sitosterolemia. Th …
OBJECTIVE: To describe and compare the clinical, biochemical, genetic, therapeutic, and follow-up characteristics of 55 pediatric and …
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.
Nie S, Chen G, Cao X, Zhang Y. Nie S, et al. Orphanet J Rare Dis. 2014 Nov 26;9:179. doi: 10.1186/s13023-014-0179-4. Orphanet J Rare Dis. 2014. PMID: 25424010 Free PMC article. Review.
The prevalence of CTX due to the CYP27A1 mutation R362C alone is approximately 1/50,000 in Caucasians. Patients with CTX have an average age of 35 years at the time of diagnosis and a diagnostic delay of 16 years. ...Juvenile cataracts, progressive neurologic dysfunction, …
The prevalence of CTX due to the CYP27A1 mutation R362C alone is approximately 1/50,000 in Caucasians. Patients with CTX have an aver …
Primary hypercholesterolemia: genetic causes and treatment of five monogenic disorders.
Pullinger CR, Kane JP, Malloy MJ. Pullinger CR, et al. Expert Rev Cardiovasc Ther. 2003 May;1(1):107-19. doi: 10.1586/14779072.1.1.107. Expert Rev Cardiovasc Ther. 2003. PMID: 15030301 Review.
These are familial hypercholesterolemia (LDL receptor gene: LDLR); familial ligand-defective apoB- 100 (apoB gene: APOB); autosomal recessive hypercholesterolemia (ARH gene); sitosterolemia (ABCG5 or ABCG8 genes) and cholesterol 7alpha-hydroxylase deficiency (CYP7A1 gene). …
These are familial hypercholesterolemia (LDL receptor gene: LDLR); familial ligand-defective apoB- 100 (apoB gene: APOB); autosomal recessiv …