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2025

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Year Number of Results
1971 2
1972 2
1973 1
1975 5
1976 4
1977 3
1978 3
1979 5
1980 4
1981 2
1982 9
1983 2
1984 2
1985 3
1986 1
1987 6
1988 12
1989 5
1990 15
1991 15
1992 18
1993 35
1994 20
1995 20
1996 10
1997 9
1998 18
1999 20
2000 24
2001 32
2002 28
2003 29
2004 31
2005 28
2006 41
2007 33
2008 33
2009 26
2010 46
2011 42
2012 50
2013 68
2014 71
2015 64
2016 40
2017 51
2018 44
2019 36
2020 48
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2023 40
2024 40
2025 2

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1,175 results

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Page 1
Familial hypercholesterolemia.
Bouhairie VE, Goldberg AC. Bouhairie VE, et al. Cardiol Clin. 2015 May;33(2):169-79. doi: 10.1016/j.ccl.2015.01.001. Cardiol Clin. 2015. PMID: 25939291 Free PMC article. Review.
Familial hypercholesterolemia is a common, inherited disorder of cholesterol metabolism that leads to early cardiovascular morbidity and mortality. ...It is important to increase awareness of this disorder in physicians and patients to reduce the burde …
Familial hypercholesterolemia is a common, inherited disorder of cholesterol metabolism that leads to early cardiovascu …
Genetic and molecular architecture of familial hypercholesterolemia.
Abifadel M, Boileau C. Abifadel M, et al. J Intern Med. 2023 Feb;293(2):144-165. doi: 10.1111/joim.13577. Epub 2022 Oct 17. J Intern Med. 2023. PMID: 36196022 Free PMC article. Review.
Despite its important risk of premature atherosclerosis and cardiovascular disease, familial hypercholesterolemia (FH) is still largely underdiagnosed worldwide. It is one of the most frequently inherited diseases due to mutations, for autosomal dominant forms, in either o …
Despite its important risk of premature atherosclerosis and cardiovascular disease, familial hypercholesterolemia (FH) is still largely unde …
Familial hypercholesterolaemia.
Defesche JC, Gidding SS, Harada-Shiba M, Hegele RA, Santos RD, Wierzbicki AS. Defesche JC, et al. Nat Rev Dis Primers. 2017 Dec 7;3:17093. doi: 10.1038/nrdp.2017.93. Nat Rev Dis Primers. 2017. PMID: 29219151 Review.
Familial hypercholesterolaemia is a common inherited disorder characterized by abnormally elevated serum levels of low-density lipoprotein (LDL) cholesterol from birth, which in time can lead to cardiovascular disease (CVD). Most cases are caused by autosomal domina …
Familial hypercholesterolaemia is a common inherited disorder characterized by abnormally elevated serum levels of low-density …
Drug-induced phospholipidosis.
Anderson N, Borlak J. Anderson N, et al. FEBS Lett. 2006 Oct 9;580(23):5533-40. doi: 10.1016/j.febslet.2006.08.061. Epub 2006 Sep 5. FEBS Lett. 2006. PMID: 16979167 Free article. Review.
Despite significant advances in the understanding of drug-altered lipid metabolism, the relationship between impaired phospholipid metabolism and drug-induced toxicity remains enigmatic. Here we review molecular features of inheritable lysosomal storag …
Despite significant advances in the understanding of drug-altered lipid metabolism, the relationship between impaired phosphol …
Familial hypercholesterolemia--epidemiology, diagnosis, and screening.
Singh S, Bittner V. Singh S, et al. Curr Atheroscler Rep. 2015;17(2):482. doi: 10.1007/s11883-014-0482-5. Curr Atheroscler Rep. 2015. PMID: 25612857 Review.
Familial hypercholesterolemia is among the commonest inherited metabolic disorders and is characterized by severely elevated LDL cholesterol levels. ...Autosomal recessive inheritance is rare. The prevalence of the heterozygous state has been estimated at 1 i …
Familial hypercholesterolemia is among the commonest inherited metabolic disorders and is characterized by severely elevated L …
Homozygous Familial Hypercholesterolemia.
Nohara A, Tada H, Ogura M, Okazaki S, Ono K, Shimano H, Daida H, Dobashi K, Hayashi T, Hori M, Matsuki K, Minamino T, Yokoyama S, Harada-Shiba M. Nohara A, et al. J Atheroscler Thromb. 2021 Jul 1;28(7):665-678. doi: 10.5551/jat.RV17050. Epub 2021 Apr 18. J Atheroscler Thromb. 2021. PMID: 33867421 Free PMC article. Review.
Familial hypercholesterolemia (FH) is an inherited disorder with retarded clearance of plasma LDL caused by mutations of the genes involved in the LDL receptor-mediated pathway and most of them exhibit autosomal dominant inheritance. ...However, this treatmen …
Familial hypercholesterolemia (FH) is an inherited disorder with retarded clearance of plasma LDL caused by mutations of the g …
Familial hypercholesterolemia.
Sawhney JPS, Madan K. Sawhney JPS, et al. Indian Heart J. 2024 Mar;76 Suppl 1(Suppl 1):S108-S112. doi: 10.1016/j.ihj.2023.12.002. Epub 2024 Apr 8. Indian Heart J. 2024. PMID: 38599725 Free PMC article. Review.
Familial hypercholesterolemia is a common genetic disorder of autosomal inheritance associated with elevated LDL-cholesterol. It is estimated to affect 1:250 individuals in general population roughly estimated to be 5 million in India. ...Early identification of FH …
Familial hypercholesterolemia is a common genetic disorder of autosomal inheritance associated with elevated LDL-cholesterol. …
Familial Hypercholesterolemia and Its Current Diagnostics and Treatment Possibilities: A Literature Analysis.
Zubielienė K, Valterytė G, Jonaitienė N, Žaliaduonytė D, Zabiela V. Zubielienė K, et al. Medicina (Kaunas). 2022 Nov 17;58(11):1665. doi: 10.3390/medicina58111665. Medicina (Kaunas). 2022. PMID: 36422206 Free PMC article. Review.
Familial hypercholesterolemia (FH) is a common, inherited disorder of cholesterol metabolism. This pathology is usually an autosomal dominant disorder and is caused by inherited mutations in the APOB, LDLR, and PCSK9 genes. ...Moreover, there ar …
Familial hypercholesterolemia (FH) is a common, inherited disorder of cholesterol metabolism. This pathology is usually …
Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.
Mason E, Hindmarch CCT, Dunham-Snary KJ. Mason E, et al. Endocrinol Diabetes Metab. 2023 Jan;6(1):e385. doi: 10.1002/edm2.385. Epub 2022 Oct 27. Endocrinol Diabetes Metab. 2023. PMID: 36300606 Free PMC article. Review.
INTRODUCTION: Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is the most common inherited metabolic disorder of beta-oxidation. Patients with MCADD present with hypoketotic hypoglycemia, which may quickly progress to lethargy, coma, and death. ...METHODS AND …
INTRODUCTION: Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is the most common inherited metabolic disorder of beta-o …
Familial Chylomicronemia Syndrome: A Clinical Guide For Endocrinologists.
Falko JM. Falko JM. Endocr Pract. 2018 Aug;24(8):756-763. doi: 10.4158/EP-2018-0157. Endocr Pract. 2018. PMID: 30183397 Review.
Given endocrinologists' role in the treatment of lipid disorders, it is important that they understand the clinical signs and symptoms of FCS to correctly diagnose patients. ...Secondary factors to be excluded are pregnancy, alcohol abuse, uncontrolled diabetes, and …
Given endocrinologists' role in the treatment of lipid disorders, it is important that they understand the clinical signs and …
1,175 results