about
Ion-current-based proteomic profiling of the retina in a rat model of Smith-Lemli-Opitz syndrome.Cholesterol in brain disease: sometimes determinant and frequently implicated.Cholesterol: its regulation and role in central nervous system disorders.Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism.Combining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet-Biedl syndrome.From cholesterogenesis to steroidogenesis: role of riboflavin and flavoenzymes in the biosynthesis of vitamin D.Gene mutations associated with anomalies of human gonad formation.Mutational spectrum of Smith-Lemli-Opitz syndrome.Treatment of Smith-Lemli-Opitz syndrome and other sterol disordersHedgehog: Multiple Paths for Multiple Roles in Shaping the Brain and Spinal Cord.Malformation syndromes associated with disorders of sex development.Autism spectrum disorder: an omics perspective.Differential cytotoxic effects of 7-dehydrocholesterol-derived oxysterols on cultured retina-derived cells: Dependence on sterol structure, cell type, and density.Hepatic isoprenoid metabolism in a rat model of Smith-Lemli-Opitz Syndrome.Antioxidants: The Missing Key to Improved Therapeutic Intervention in Smith-Lemli-Opitz Syndrome?Smith-lemli-opitz syndrome: a case with annular pancreas.Liver and the defects of cholesterol and bile acids biosynthesis: Rare disorders many diagnostic pitfalls.E2012-induced cataract and its predictive biomarkers.Cholesterol affects retinal nerve fiber layer thickness in patients with multiple sclerosis with optic neuritis.Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome.7-Dehydrocholesterol (7-DHC), But Not Cholesterol, Causes Suppression of Canonical TGF-β Signaling and Is Likely Involved in the Development of Atherosclerotic Cardiovascular Disease (ASCVD).FXR-Mediated Cortical Cholesterol Accumulation Contributes to the Pathogenesis of Type A Hepatic Encephalopathy.Normal IQ is possible in Smith-Lemli-Opitz syndrome.Oxysterols and Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Implications for an Improved Therapeutic Intervention
P2860
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P2860
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Smith-Lemli-Opitz syndrome.
@en
type
label
Smith-Lemli-Opitz syndrome.
@en
prefLabel
Smith-Lemli-Opitz syndrome.
@en
P2093
P2860
P1476
Smith-Lemli-Opitz syndrome.
@en
P2093
Andrea E DeBarber
Anuradha S Pappu
Louise S Merkens
Yasemen Eroglu
P2860
P356
10.1017/S146239941100189X
P577
2011-07-22T00:00:00Z