Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
Warning: file_get_contents(http://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=8808751&cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests
in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 445
 
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve
Pubget Overpricing |  
lüll
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome Salen G; Shefer S; Batta AK; Tint GS; Xu G; Honda A; Irons M; Elias ERJ Lipid Res 1996[Jun]; 37 (6): 1169-80The Smith-Lemli-Opitz syndrome is caused by an inherited defect in 7-dehydrocholesterol-delta7-reductase, the enzyme that catalyzes the last reaction in cholesterol biosynthesis, the conversion of 7-dehydrocholesterol to cholesterol. As a result, deficient cholesterol is produced and the precursor 7-dehydrocholesterol and derivatives (8-dehydrocholesterol and 19-nor-5,7,9(10)-cholestatrien-3 beta-ol) accumulate. Tissues (especially brain) deprived of cholesterol, or because of the deposited sterol precursors and derivatives, develop abnormally and function poorly. Replacement with dietary cholesterol may help correct the biochemical defects and improve symptoms.|*Oxidoreductases Acting on CH-CH Group Donors[MESH]|Adolescent[MESH]|Adult[MESH]|Child[MESH]|Child, Preschool[MESH]|Cholesterol/*metabolism[MESH]|Dehydrocholesterols/metabolism[MESH]|Female[MESH]|Fetal Death[MESH]|Heterozygote[MESH]|Humans[MESH]|Incidence[MESH]|Infant[MESH]|Infant, Newborn[MESH]|Oxidoreductases/deficiency/*genetics[MESH]|Smith-Lemli-Opitz Syndrome/epidemiology/genetics/*metabolism[MESH] |
