GC/MS in Recent Years Has Defined the Normal and Clinically Disordered Steroidome: Will It Soon Be Surpassed by LC/Tandem MS in This Role?

por Shackleton, Cedric, Pozo, Oscar J, Marcos, Josep
Publicado 2018

Biochemical and physiological improvement in a mouse model of Smith–Lemli–Opitz syndrome (SLOS) following gene transfer with AAV vectors

por Ying, Lee, Matabosch, Xavier, Serra, Montserrat, Watson, Berna, Shackleton, Cedric, Watson, Gordon
Publicado 2014

Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome

por Pasta, Saloni, Akhile, Omoye, Tabron, Dorothy, Ting, Flora, Shackleton, Cedric, Watson, Gordon
Publicado 2015

Reply to Flück et al.: Alternative androgen pathway biosynthesis drives fetal female virilization in P450 oxidoreductase deficiency

por Reisch, Nicole, Auchus, Richard J., Shackleton, Cedric H. L., Hanley, Neil A., Arlt, Wiebke
Publicado 2020

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...

por Krone, Nils, Hughes, Beverly A., Lavery, Gareth G., Stewart, Paul M., Arlt, Wiebke, Shackleton, Cedric H.L.
Publicado 2010

A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency

por Idkowiak, Jan, Randell, Tabitha, Dhir, Vivek, Patel, Pushpa, Shackleton, Cedric H. L., Taylor, Norman F., Krone, Nils, Arlt, Wiebke
Publicado 2012

Evidence for Increased 5α-Reductase Activity During Early Childhood in Daughters of Women With Polycystic Ovary Syndrome

por Torchen, Laura C., Idkowiak, Jan, Fogel, Naomi R., O'Neil, Donna M., Shackleton, Cedric H. L., Arlt, Wiebke, Dunaif, Andrea
Publicado 2016

Human steroid biosynthesis, metabolism and excretion are differentially reflected by serum and urine steroid metabolomes: A comprehensive review

por Schiffer, Lina, Barnard, Lise, Baranowski, Elizabeth S., Gilligan, Lorna C., Taylor, Angela E., Arlt, Wiebke, Shackleton, Cedric H.L., Storbeck, Karl-Heinz
Publicado 2019

A SULT2A1 genetic variant identified by GWAS as associated with low serum DHEAS does not impact on the actual DHEA/DHEAS ratio

por Haring, Robin, Wallaschofski, Henri, Teumer, Alexander, Kroemer, Heyo, Taylor, Angela E, Shackleton, Cedric H L, Nauck, Matthias, Völker, Uwe, Homuth, Georg, Arlt, Wiebke
Publicado 2013

Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism

por 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
Publicado 2019

Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche

por 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
Publicado 2010

Alternative pathway androgen biosynthesis and human fetal female virilization

por 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
Publicado 2019

Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty

por 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
Publicado 2016

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

por 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
Publicado 2013

Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

por Idkowiak, Jan, O'Riordan, Stephen, Reisch, Nicole, Malunowicz, Ewa M., Collins, Felicity, Kerstens, Michiel N., Köhler, Birgit, Graul-Neumann, Luitgard Margarete, Szarras-Czapnik, Maria, Dattani, Mehul, Silink, Martin, Shackleton, Cedric H. L., Maiter, Dominique, Krone, Nils, Arlt, Wiebke
Publicado 2011

The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series

por Sun, Min, Mueller, Jonathan W, Gilligan, Lorna C, Taylor, Angela E, Shaheen, Fozia, Noczyńska, Anna, T’Sjoen, Guy, Denvir, Louise, Shenoy, Savitha, Fulton, Piers, Cheetham, Timothy D, Gleeson, Helena, Rahman, Mushtaqur, Krone, Nils P, Taylor, Norman F, Shackleton, Cedric H L, Arlt, Wiebke, Idkowiak, Jan
Publicado 2021

Urine Steroid Metabolomics as a Biomarker Tool for Detecting Malignancy in Adrenal Tumors

por Arlt, Wiebke, Biehl, Michael, Taylor, Angela E., Hahner, Stefanie, Libé, Rossella, Hughes, Beverly A., Schneider, Petra, Smith, David J., Stiekema, Han, Krone, Nils, Porfiri, Emilio, Opocher, Giuseppe, Bertherat, Jerôme, Mantero, Franco, Allolio, Bruno, Terzolo, Massimo, Nightingale, Peter, Shackleton, Cedric H. L., Bertagna, Xavier, Fassnacht, Martin, Stewart, Paul M.
Publicado 2011

OR29-2 Mild Autonomous Cortisol Excess (MACE) in Adrenal Incidentalomas - Metabolic Risk Profile and Urinary Steroid Metabolome Analysis in 1208 Prospectively Recruited Patients

por Prete, Alessandro, Taylor, Angela, Alice, Sitch, Gilligan, Lorna, Vassiliadi, Dimitra, Ambroziak, Urszula, Lang, Katharina, Kastelan, Darko, Tabarin, Antoine, Dennedy, Michael, Ueland, Grethe, Quinkler, Marcus, Masjkur, Jimmy, Fassnacht, Martin, Ivovic, Miomira, Terzolo, Massimo, Beuschlein, Felix, Manolopoulos, Konstantinos, O'Reilly, Michael, Tsagarakis, Stylianos, Shackleton, Cedric, Deeks, Jonathan, Bancos, Irina, Arlt, Wiebke
Publicado 2019

Bile acid biosynthesis in Smith-Lemli-Opitz syndrome bypassing cholesterol: Potential importance of pathway intermediates

por Abdel-Khalik, Jonas, Hearn, Thomas, Dickson, Alison L., Crick, Peter J., Yutuc, Eylan, Austin-Muttitt, Karl, Bigger, Brian W., Morris, Andrew A., Shackleton, Cedric H., Clayton, Peter T., Iida, Takashi, Sircar, Ria, Rohatgi, Rajat, Marschall, Hanns-Ulrich, Sjövall, Jan, Björkhem, Ingemar, Mullins, Jonathan G.L., Griffiths, William J., Wang, Yuqin
Publicado 2021

Steroid metabolome analysis reveals prevalent glucocorticoid excess in primary aldosteronism

por Arlt, Wiebke, Lang, Katharina, Sitch, Alice J., Dietz, Anna S., Rhayem, Yara, Bancos, Irina, Feuchtinger, Annette, Chortis, Vasileios, Gilligan, Lorna C., Ludwig, Philippe, Riester, Anna, Asbach, Evelyn, Hughes, Beverly A., O’Neil, Donna M., Bidlingmaier, Martin, Tomlinson, Jeremy W., Hassan-Smith, Zaki K., Rees, D. Aled, Adolf, Christian, Hahner, Stefanie, Quinkler, Marcus, Dekkers, Tanja, Deinum, Jaap, Biehl, Michael, Keevil, Brian G., Shackleton, Cedric H.L., Deeks, Jonathan J., Walch, Axel K., Beuschlein, Felix, Reincke, Martin
Publicado 2017