scholarly article | Q13442814 |
P356 | DOI | 10.1194/JLR.D800017-JLR200 |
P698 | PubMed publication ID | 18503032 |
P50 | author | Akira Honda | Q51923732 |
P2093 | author name string | Tadashi Ikegami | |
Yasushi Matsuzaki | |||
Takashi Hara | |||
Mitsuteru Numazawa | |||
Hiroshi Miyazaki | |||
Kouwa Yamashita | |||
Guorong Xu | |||
Mutsumi Shirai | |||
P2860 | cites work | Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome | Q22010196 |
Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters | Q24290568 | ||
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene | Q24532084 | ||
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome | Q28114793 | ||
Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency | Q28115172 | ||
NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets | Q28204612 | ||
Rapid quantification of free and esterified phytosterols in human serum using APPI-LC-MS/MS. | Q33432345 | ||
Analysis of oxysterols by electrospray tandem mass spectrometry | Q33434723 | ||
High-performance liquid chromatography/atmospheric pressure chemical ionization tandem mass spectrometry determination of cholesterol uptake by Caco-2 cells | Q33435883 | ||
Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts | Q34304337 | ||
Extraction and analysis of sterols in biological matrices by high performance liquid chromatography electrospray ionization mass spectrometry | Q34705090 | ||
Characterization of oxysterols by electrospray ionization tandem mass spectrometry after one-step derivatization with dimethylglycine | Q36296454 | ||
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. | Q39697665 | ||
Analysis of sterols by high-performance liquid chromatography/mass spectrometry combined with chemometrics | Q40307360 | ||
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome | Q41929357 | ||
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia | Q44063133 | ||
Highly sensitive quantification of 7alpha-hydroxy-4-cholesten-3-one in human serum by LC-ESI-MS/MS. | Q51929163 | ||
P433 | issue | 9 | |
P304 | page(s) | 2063-2073 | |
P577 | publication date | 2008-05-23 | |
P1433 | published in | Journal of Lipid Research | Q6295449 |
P1476 | title | Highly sensitive analysis of sterol profiles in human serum by LC-ESI-MS/MS | |
P478 | volume | 49 |
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