Living with inborn errors of cholesterol biosynthesis: lessons from adult patients-Reference-Cited by-同舟云学术

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Living with inborn errors of cholesterol biosynthesis: lessons from adult patients

Published:2013-04-05 Issue:2 Volume:85 Page:184-188
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Cardoso M.L.¹,Barbosa M.²³,Serra D.⁴,Martins E.⁵,Fortuna A.³,Reis-Lima M.⁶,Bandeira A.⁵,Balreira A.¹,Marques F.¹

Affiliation:

1. Institute for Molecular and Cell Biology (IBMC); University of Porto; Porto Portugal

2. Gulbenkian Science Institute; Oeiras Portugal

3. Medical Genetics Centre Jacinto Magalhães; Porto Portugal

4. Dermatology Department; Coimbra University Hospitals; Coimbra Portugal

5. Metabolic Unit; Porto Hospital Centre (CHP); Porto Portugal

6. Portugal Private Hospitals; Porto Portugal

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Malformation syndromes caused by disorders of cholesterol synthesis;Porter;J Lipid Res,2011

2. Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome;Linck;Am J Med Genet,2000

3. Transfer of maternal cholesterol to embryo and fetus in pregnant mice;Yoshida;J Lipid Res,2005

4. Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7;Cardoso;Mol Genet Metab,2005

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. UPLC-Orbitrap-HRMS application for analysis of plasma sterols;Analytica Chimica Acta;2024-04

2. Quantitative Proteomic Analysis of Skeletal Muscle Detergent- Resistant Membranes in a Smith-Lemli-Opitz Syndrome Mouse;Cholesterol - Good, Bad and the Heart;2018-08-08

3. The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway;European Journal of Neurology;2015-11-13

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