Clinical Features of Lysosomal Acid Lipase Deficiency von Burton, Barbara K., Deegan, Patrick B., Enns, Gregory M., Guardamagna, Ornella, Horslen, Simon, Hovingh, Gerard K., Lobritto, Steve J., Malinova, Vera, McLin, Valerie A., Raiman, Julian, Di Rocco, Maja, Santra, Saikat, Sharma, Reena, Sykut‐Cegielska, Jolanta, Whitley, Chester B., Eckert, Stephen, Valayannopoulos, Vassili, Quinn, Anthony G.

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Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants von Jones, Simon A., Valayannopoulos, Vassili, Schneider, Eugene, Eckert, Stephen, Banikazemi, Maryam, Bialer, Martin, Cederbaum, Stephen, Chan, Alicia, Dhawan, Anil, Di Rocco, Maja, Domm, Jennifer, Enns, Gregory M., Finegold, David, Gargus, J. Jay, Guardamagna, Ornella, Hendriksz, Christian, Mahmoud, Iman G., Raiman, Julian, Selim, Laila A., Whitley, Chester B., Zaki, Osama, Quinn, Anthony G.

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Quality of life in thyroid eye disease: impact of quality of care von Estcourt, Stephanie, Quinn, Anthony G, Vaidya, Bijay

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Human GLI2 and GLI1 are part of a positive feedback mechanism in basal cell carcinoma von REGL, Gerhard, NEILL, Graham W, EICHBERGER, Thomas, KASPER, Maria, IKRAM, Mohammed S, KOLLER, Josef, HINTNER, Helmut, QUINN, Anthony G, FRISCHAUF, Anna-Maria, ABERGER, Fritz

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Identification and metabolic profiling of patients with lysosomal acid lipase deficiency von Pullinger, Clive R., PhD, Stock, Eveline Oestreicher, MD, Movsesyan, Irina, BS, Malloy, Mary J., MD, Frost, Philip H., MD, Tripuraneni, Radhika, MD, MPH, Quinn, Anthony G., MBChB, PhD, FRCP, Ishida, Brian Y., PhD, Schaefer, Ernst J., MD, Asztalos, Bela F., PhD, Kane, John P., MD, PhD

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The zinc-finger transcription factor GLI2 antagonizes contact inhibition and differentiation of human epidermal cells von Regl, Gerhard, Kasper, Maria, Schnidar, Harald, Eichberger, Thomas, Neill, Graham W, Ikram, Mohammed S, Quinn, Anthony G, Philpott, Mike P, Frischauf, Anna-Maria, Aberger, Fritz

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Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients With cholesteryl ester storage disease von Balwani, Manisha, Breen, Catherine, Enns, Gregory M., Deegan, Patrick B., Honzík, Tomas, Jones, Simon, Kane, John P., Malinova, Vera, Sharma, Reena, Stock, Eveline O., Valayannopoulos, Vassili, Wraith, J. Edmond, Burg, Jennifer, Eckert, Stephen, Schneider, Eugene, Quinn, Anthony G.

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Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study von Jones, Simon A, Rojas-Caro, Sandra, Quinn, Anthony G, Friedman, Mark, Marulkar, Sachin, Ezgu, Fatih, Zaki, Osama, Gargus, J Jay, Hughes, Joanne, Plantaz, Dominique, Vara, Roshni, Eckert, Stephen, Arnoux, Jean-Baptiste, Brassier, Anais, Le Quan Sang, Kim-Hanh, Valayannopoulos, Vassili

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Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency von Diaz, George A., Schulze, Andreas, McNutt, Markey C., Leão‐Teles, Elisa, Merritt, J. Lawrence, Enns, Gregory M., Batzios, Spyros, Bannick, Allison, Zori, Roberto T., Sloan, Leslie S., Potts, Susan L., Bubb, Gillian, Quinn, Anthony G.

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Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency von Valayannopoulos, Vassili, Malinova, Vera, Honzík, Tomas, Balwani, Manisha, Breen, Catherine, Deegan, Patrick B, Enns, Gregory M, Jones, Simon A, Kane, John P, Stock, Eveline O, Tripuraneni, Radhika, Eckert, Stephen, Schneider, Eugene, Hamilton, Gavin, Middleton, Michael S, Sirlin, Claude, Kessler, Bruce, Bourdon, Christopher, Boyadjiev, Simeon A, Sharma, Reena, Twelves, Chris, Whitley, Chester B, Quinn, Anthony G

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Expression of natural peptide antibiotics in human skin von Fulton, Clare, Anderson, G Mark, Zasloff, Michael, Bull, Richard, Quinn, Anthony G

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Persistent fetal vasculature and spontaneous hyphema in a patient with Klippel-Trénaunay-Weber syndrome von Dhir, Luna, MMed, FRCS, Quinn, Anthony G., FRANZCO, FRCOphth

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An Association Between Sebaceous Carcinoma and Microsatellite Instability in Immunosuppressed Organ Transplant Recipients von Harwood, Catherine A., Swale, Victoria J., Bataille, Veronique A., Quinn, Anthony G., Ghali, Lucy, Patel, Sejal V., Dove-Edwin, Isis, Cerio, Rino, McGregor, Jane M.

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FOXM1 is a downstream target of Gli1 in basal cell carcinomas von TEH, Muy-Teck, WONG, Soon-Tee, NEILL, Graham W, GHALI, Lucy R, PHILPOTT, Michael P, QUINN, Anthony G

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Hepatic cholesteryl ester accumulation in lysosomal acid lipase deficiency: Non-invasive identification and treatment monitoring by magnetic resonance von Thelwall, Peter E, Smith, Fiona E, Leavitt, Mark C, Canty, David, Hu, Wei, Hollingsworth, Kieren G, Thoma, Christian, Trenell, Michael I, Taylor, Roy, Rutkowski, Joseph V, Blamire, Andrew M, Quinn, Anthony G

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Changing trend in referral to secondary care specialist thyroid eye disease clinic following the Amsterdam declaration von Quinn, Annika S., Dujardin, Leticia R., Knight, Bridget, Benzimra, James, Quinn, Anthony G., Vaidya, Bijay

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Expression of the Peptide Antibiotics Human β Defensin-1 and Human β Defensin-2 in Normal Human Skin von Falconer, Amy, Ikram, Mohammed, Bissett, Clare E., Cerio, Rino, Quinn, Anthony G., Ali, Rozina S.

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Human Homolog of patched, a Candidate Gene for the Basal Cell Nevus Syndrome von Johnson, Ronald L., Rothman, Alana L., Xie, Jingwu, Goodrich, Lisa V., Bare, John W., Bonifas, Jeannette M., Quinn, Anthony G., Myers, Richard M., Cox, David R., Epstein, Ervin H., Scott, Matthew P.

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Obstructive sleep apnea syndrome with bilateral papilledema and vision loss in a 3-year-old child von Quinn, Anthony G., FRANZCO, FRCOphth, DCH, Gouws, Pieter, FRCOphth, Headland, Sophie, MRCOphth, Oades, Patrick, MA, FRCPCH, Pople, Ian, MD, FRCS, FRCS(SN), Taylor, David, FRCOphth, Benton, J. Sarah, FRCPCH, Buncic, J. Raymond, MD, FRCS(C), Henderson, John, MD, FRCPCH, Fleming, Peter, FRCP(Can), FRCP(Lon), PhD(Bristol), FRCPCH

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Infantile high myopia in Bohring-Opitz syndrome von Simpson, Andrew R.H., BSc, MBBS, Gibbon, Caspar E.A., BM, MRCOphth, Quinn, Anthony G., MBChB, FRCOphth, FRANZCO, DCH, Turnpenny, Peter D., MBChB, DCH, DRCOG, FRCP, FRCPCH

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