檢索結果 - Shackleton, Cedric H. L.

Role of a Disordered Steroid Metabolome in the Elucidation of Sterol and Steroid Biosynthesis 由 Shackleton, Cedric H. L.

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Points: Recognising placental steroid sulphatase deficiency 由 Epstein, Ervin H, Krauss, Ronald M, Shackleton, Cedric H L

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Distinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency 由 Neres, Marcos S., Auchus, Richard J., Shackleton, Cedric H. L., Kater, Claudio E.

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Analysis by liquid chromatography–mass spectrometry of sterols and oxysterols in brain of the newborn Dhcr7(Δ3-5/T93M) mouse: A model of Smith–Lemli–Opitz syndrome 由 Meljon, Anna, Watson, Gordon L., Wang, Yuqin, Shackleton, Cedric H.L., Griffiths, William J.

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Reply to Flück et al.: Alternative androgen pathway biosynthesis drives fetal female virilization in P450 oxidoreductase deficiency 由 Reisch, Nicole, Auchus, Richard J., Shackleton, Cedric H. L., Hanley, Neil A., Arlt, Wiebke

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Cholesterol Biosynthesis from Birth to Adulthood in a Mouse Model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz Syndrome) 由 Marcos, Josep, Shackleton, Cedric H.L., Buddhikot, Madhavee M., Porter, Forbes D., Watson, Gordon L.

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Prostate formation in a marsupial is mediated by the testicular androgen 5α-androstane-3α,17β-diol 由 Shaw, Geoffrey, Renfree, Marilyn B., Leihy, Michael W., Shackleton, Cedric H. L., Roitman, Esther, Wilson, Jean D.

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Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spect... 由 Krone, Nils, Hughes, Beverly A., Lavery, Gareth G., Stewart, Paul M., Arlt, Wiebke, Shackleton, Cedric H.L.

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A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency 由 Idkowiak, Jan, Randell, Tabitha, Dhir, Vivek, Patel, Pushpa, Shackleton, Cedric H. L., Taylor, Norman F., Krone, Nils, Arlt, Wiebke

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Evidence for Increased 5α-Reductase Activity During Early Childhood in Daughters of Women With Polycystic Ovary Syndrome 由 Torchen, Laura C., Idkowiak, Jan, Fogel, Naomi R., O'Neil, Donna M., Shackleton, Cedric H. L., Arlt, Wiebke, Dunaif, Andrea

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Human steroid biosynthesis, metabolism and excretion are differentially reflected by serum and urine steroid metabolomes: A comprehensive review 由 Schiffer, Lina, Barnard, Lise, Baranowski, Elizabeth S., Gilligan, Lorna C., Taylor, Angela E., Arlt, Wiebke, Shackleton, Cedric H.L., Storbeck, Karl-Heinz

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A SULT2A1 genetic variant identified by GWAS as associated with low serum DHEAS does not impact on the actual DHEA/DHEAS ratio 由 Haring, Robin, Wallaschofski, Henri, Teumer, Alexander, Kroemer, Heyo, Taylor, Angela E, Shackleton, Cedric H L, Nauck, Matthias, Völker, Uwe, Homuth, Georg, Arlt, Wiebke

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Analysis of bioactive oxysterols in newborn mouse brain by LC/MS 由 Meljon, Anna, Theofilopoulos, Spyridon, Shackleton, Cedric H. L., Watson, Gordon L., Javitt, Norman B., Knölker, Hans-Joachim, Saini, Ratni, Arenas, Ernest, Wang, Yuqin, Griffiths, William J.

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Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism 由 Storbeck, Karl-Heinz, Schiffer, Lina, Baranowski, Elizabeth S, Chortis, Vasileios, Prete, Alessandro, Barnard, Lise, Gilligan, Lorna C, Taylor, Angela E, Idkowiak, Jan, Arlt, Wiebke, Shackleton, Cedric H L

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A genetic defect resulting in mild low-renin hypertension 由 Wilson, Robert C., Dave-Sharma, Swati, Wei, Ji-Qing, Obeyesekere, Varuni R., Li, Kevin, Ferrari, Paolo, Krozowski, Zygmunt S., Shackleton, Cedric H. L., Bradlow, Leon, Wiens, Timothy, New, Maria I.

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Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche 由 Idkowiak, Jan, Malunowicz, Ewa M., Dhir, Vivek, Reisch, Nicole, Szarras-Czapnik, Maria, Holmes, Donna M., Shackleton, Cedric H. L., Davies, John D., Hughes, Ieuan A., Krone, Nils, Arlt, Wiebke

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Alternative pathway androgen biosynthesis and human fetal female virilization 由 Reisch, Nicole, Taylor, Angela E., Nogueira, Edson F., Asby, Daniel J., Dhir, Vivek, Berry, Andrew, Krone, Nils, Auchus, Richard J., Shackleton, Cedric H. L., Hanley, Neil A., Arlt, Wiebke

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Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty 由 Idkowiak, Jan, Taylor, Angela E., Subtil, Sandra, O'Neil, Donna M., Vijzelaar, Raymon, Dias, Renuka P., Amin, Rakesh, Barrett, Timothy G., Shackleton, Cedric H. L., Kirk, Jeremy M. W., Moss, Celia, Arlt, Wiebke

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Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency 由 Lavery, Gareth G., Walker, Elizabeth A., Tiganescu, Ana, Ride, Jon P., Shackleton, Cedric H. L., Tomlinson, Jeremy W., Connell, John M. C., Ray, David W., Biason-Lauber, Anna, Malunowicz, Ewa M., Arlt, Wiebke, Stewart, Paul M.

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Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency 由 Reisch, Nicole, Idkowiak, Jan, Hughes, Beverly A., Ivison, Hannah E., Abdul-Rahman, Omar A., Hendon, Laura G., Olney, Ann Haskins, Nielsen, Shelly, Harrison, Rachel, Blair, Edward M., Dhir, Vivek, Krone, Nils, Shackleton, Cedric H. L., Arlt, Wiebke

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