标题
Smith–Lemli–Opitz syndrome
作者
关键词
-
出版物
EXPERT REVIEWS IN MOLECULAR MEDICINE
Volume 13, Issue -, Pages -
出版商
Cambridge University Press (CUP)
发表日期
2011-07-22
DOI
10.1017/s146239941100189x
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Direct analysis of sterols from dried plasma/blood spots by an atmospheric pressure thermal desorption chemical ionization mass spectrometry (APTDCI-MS) method for a rapid screening of Smith–Lemli–Opitz syndrome
- (2010) Giuseppe Paglia et al. ANALYST
- Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome
- (2010) Zeljka Korade et al. JOURNAL OF LIPID RESEARCH
- Malformation syndromes caused by disorders of cholesterol synthesis
- (2010) Forbes D. Porter et al. JOURNAL OF LIPID RESEARCH
- Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer
- (2010) Xavier Matabosch et al. JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
- Oxysterols from Free Radical Chain Oxidation of 7-Dehydrocholesterol: Product and Mechanistic Studies
- (2010) Libin Xu et al. JOURNAL OF THE AMERICAN CHEMICAL SOCIETY
- Quantitative Proteomics Analysis of Inborn Errors of Cholesterol Synthesis
- (2010) Xiao-Sheng Jiang et al. MOLECULAR & CELLULAR PROTEOMICS
- Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome
- (2010) G.J. Patti et al. NEUROSCIENCE
- Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome
- (2009) Elaine Tierney et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Observation of fetal brain in a rat valproate-induced autism model: a developmental neurotoxicity study
- (2009) Makiko Kuwagata et al. INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
- Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Δ7-sterol reductase (Dhcr7), the enzyme associated with Smith–Lemli–Opitz syndrome
- (2009) Xavier Matabosch et al. JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
- Effects of Dietary Cholesterol and Simvastatin on Cholesterol Synthesis in Smith-Lemli-Opitz Syndrome
- (2009) Yen-Ming Chan et al. PEDIATRIC RESEARCH
- Prevalence of Parent-Reported Diagnosis of Autism Spectrum Disorder Among Children in the US, 2007
- (2009) M. D. Kogan et al. PEDIATRICS
- Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy
- (2009) N. Cartier et al. SCIENCE
- Where Does Fetal and Embryonic Cholesterol Originate and What Does It Do?
- (2008) Laura A. Woollett Annual Review of Nutrition
- Potential of Sterol Analysis by Liquid Chromatography-Tandem Mass Spectrometry for the Prenatal Diagnosis of Smith-Lemli-Opitz Syndrome
- (2008) W. J. Griffiths et al. CLINICAL CHEMISTRY
- Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management
- (2008) Forbes D Porter EUROPEAN JOURNAL OF HUMAN GENETICS
- Pregnancy and life after preimplantation genetic diagnosis of Smith-Lemli-Opitz syndrome
- (2008) Joanna Liss et al. FERTILITY AND STERILITY
- Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome
- (2008) M. L. Lindegaard et al. HUMAN MOLECULAR GENETICS
- Alteration of retinal rod outer segment membrane fluidity in a rat model of Smith-Lemli-Opitz syndrome
- (2008) Kathleen Boesze-Battaglia et al. JOURNAL OF LIPID RESEARCH
- Highly sensitive analysis of sterol profiles in human serum by LC-ESI-MS/MS
- (2008) Akira Honda et al. JOURNAL OF LIPID RESEARCH
- Lipidomic analysis of the retina in a rat model of Smith–Lemli–Opitz syndrome: alterations in docosahexaenoic acid content of phospholipid molecular species
- (2008) David A. Ford et al. JOURNAL OF NEUROCHEMISTRY
- Enhanced placental cholesterol efflux by fetal HDL in Smith–Lemli–Opitz syndrome
- (2008) Katie T. Jenkins et al. MOLECULAR GENETICS AND METABOLISM
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