Results 141 to 147 of about 7,344 (147)

Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report. [PDF]

J Med Case Rep
Wu LL, Zhang L, Tang TT, Zhou YY, Chang XX, Guo W, Yan HM, Lin HD.   +7 more
europepmc   +1 more source

Hepatic osteodystrophy: An underrecognized metabolic bone disease. [PDF]

World J Hepatol
Pramanik S, Palui R, Ray S.
europepmc   +1 more source

Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome. [PDF]

Mol Genet Metab
Luke RA, Cawley NX, Rahhal S, Selvaraman A, Thurm A, Wassif CA, Porter FD.   +6 more
europepmc   +1 more source

Electron transfer engineering of artificially designed cell factory for complete biosynthesis of steroids. [PDF]

Nat Commun
Chen Q, Wei W, Chao Z, Qi R, He J, Chen H, Wang K, Wang X, Rao Y, Zhou J.   +9 more
europepmc   +1 more source

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27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith–Lemli–Opitz syndrome: a novel metabolic pathway

Steroids, 2003
Smith-Lemli-Opitz syndrome (SLOS) is attributable to mutations in the gene coding for 7-dehydrocholesterol reductase. Low to absent enzyme activity accounts for the accumulation of both 7-dehydrocholesterol and 8-dehydrocholesterol in plasma and other tissues.
Christopher A, Wassif, Jinghua, Yu, Jisong, Cui, Forbes D, Porter, Norman B, Javitt   +4 more
openaire   +2 more sources

Effects of sample storage on 7- and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatography–mass spectrometry-selected ion monitoring

Journal of Chromatography B, 2002
Smith-Lemli-Opitz syndrome (SLOS) patients have increased 7- and 8-dehydrocholesterol (DHC) concentrations. Using gas chromatography-mass spectrometry with selected ion monitoring we investigated whether storage time (24 h, 7 and 30 days, and 22 months at room temperature or at 4 degrees C) affected DHC concentrations in whole blood spots (WBSs) from ...
CORSO G, ROSSI M, DE BRASI D, ROSSI I, PARENTI, GIANCARLO, DELLO RUSSO A.   +5 more
openaire   +5 more sources

High 8-dehydrocholesterol level in a typical case of Conradi–Hunermann–Happle syndrome with a novel H76Y missense mutation

Journal of Dermatological Science, 2008
Ayano Umekoji, Kazuyoshi Fukai, Takeshi Kasama, Toshiaki Yokoi, Mika Saito, Akitoshi Tsuruhara, Masamitsu Ishii   +6 more
openaire   +1 more source