Targeting the liver to treat the eye by Berna Seker Yilmaz, Paul Gissen

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Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency by Berna Seker Yilmaz, Paul Gissen

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Buffy Coat Score as a Biomarker of Treatment Response in Neuronal Ceroid Lipofuscinosis Type 2 by Siyamini Sivananthan, Laura Lee, Glenn Anderson, Barbara Csanyi, Ruth Williams, Paul Gissen

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Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G > A (p.Arg146Gln) mutation by Claire Duff, Madeha Islam, Onelia Gagliano, Hema Pramod, Hassan Rashidi, Manju Kurian, Paul Gissen, Julien Baruteau

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Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations by Marisa Ofrim, Daniel Little, Mina Nazari, Christopher J. Minnis, Michael J. Devine, Sara E. Mole, Paul Gissen, Maëlle Lorvellec

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Gene Therapy for Lysosomal Storage Disorders: Ongoing Studies and Clinical Development by Giulia Massaro, Amy F. Geard, Wenfei Liu, Oliver Coombe-Tennant, Simon N. Waddington, Julien Baruteau, Paul Gissen, Ahad A. Rahim

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INNOVATIVE SPLICE SWITCHING OLIGONUCLEOTIDE THERAPY FOR NIEMANN-PICK TYPE C1 DISEASE by Maria Martinez De Lagran, Yu-Han Huang, Ondrej Kostov, Haiyan Zhou, Paul Gissen, Marvin Caruthers, Timothy Yu, Daniel Ginberg, Mara Dierssen

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Macrophage Inhibitor Clodronate Enhances Liver Transduction of Lentiviral but Not Adeno-Associated Viral Vectors or mRNA Lipid Nanoparticles in Neonatal and Juvenile Mice by Loukia Touramanidou, Sonam Gurung, Claudiu A. Cozmescu, Dany Perocheau, Dale Moulding, Patrick F. Finn, Andrea Frassetto, Simon N. Waddington, Paul Gissen, Julien Baruteau

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Exploring concurrent validity of the CLN2 Clinical Rating Scale: Comparison to PedsQL using cerliponase alfa clinical trial data. by Nicola Specchio, Paul Gissen, Emily de Los Reyes, Andrew Olaye, Charlotte Camp, Tristan Curteis, Annabel Griffiths, Thomas Butt, Jessica Cohen-Pfeffer, Peter Slasor, Zlatko Sisic, Mohit Jain, Angela Schulz

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Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy by Haiyan Zhou, Jinhong Meng, Alberto Malerba, Francesco Catapano, Palittiya Sintusek, Susan Jarmin, Lucy Feng, Ngoc Lu‐Nguyen, Lianwen Sun, Virginie Mariot, Julie Dumonceaux, Jennifer E. Morgan, Paul Gissen, George Dickson, Francesco Muntoni

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Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study by Berna Seker Yilmaz, Julien Baruteau, Anupam Chakrapani, Michael Champion, Efstathia Chronopoulou, Lee C. Claridge, Anne Daly, Catherine Davies, James Davison, Anil Dhawan, Stephanie Grunewald, Girish L. Gupte, Nigel Heaton, Hugh Lemonde, Pat McKiernan, Philippa Mills, Andrew A.M. Morris, Helen Mundy, Germaine Pierre, Sanjay Rajwal, Siyamini Sivananthan, Srividya Sreekantam, Karolina M. Stepien, Roshni Vara, Mildrid Yeo, Paul Gissen

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Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects by Ben Johnson, Gillian C. Lowe, Jane Futterer, Marie Lordkipanidzé, David MacDonald, Michael A. Simpson, Isabel Sanchez-Guiú, Sian Drake, Danai Bem, Vincenzo Leo, Sarah J. Fletcher, Ban Dawood, José Rivera, David Allsup, Tina Biss, Paula HB Bolton-Maggs, Peter Collins, Nicola Curry, Charlotte Grimley, Beki James, Mike Makris, Jayashree Motwani, Sue Pavord, Katherine Talks, Jecko Thachil, Jonathan Wilde, Mike Williams, Paul Harrison, Paul Gissen, Stuart Mundell, Andrew Mumford, Martina E. Daly, Steve P. Watson, Neil V. Morgan

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Three-Country Snapshot of Ornithine Transcarbamylase Deficiency by Berna Seker Yilmaz, Julien Baruteau, Nur Arslan, Halil Ibrahim Aydin, Magalie Barth, Ayse Ergul Bozaci, Anais Brassier, Ebru Canda, Aline Cano, Efstathia Chronopoulou, Grainne M. Connolly, Lena Damaj, Charlotte Dawson, Dries Dobbelaere, Claire Douillard, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadioglu, Fatih Kardas, Cigdem Seher Kasapkara, Gonca Kilic Yildirim, Deniz Kor, Melis Kose, Cecilia Marelli, Helen Mundy, Siobhan O’Sullivan, Burcu Ozturk Hismi, Radha Ramachandran, Agathe Roubertie, Mehtap Sanlilar, Manuel Schiff, Srividya Sreekantam, Karolina M. Stepien, Ozlem Uzun Unal, Yilmaz Yildiz, Tanyel Zubarioglu, Paul Gissen

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