Diagnostic workup and management of patients with suspected Niemann-Pick type C disease

by Apostolos Papandreou, Paul Gissen
Published 2016-05-01

Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease

by Berna Seker Yilmaz, Julien Baruteau, Ahad A. Rahim, Paul Gissen
Published 2020-07-01

Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report

by Alejandra Rosales, Maissa Mhibik, Paul Gissen, Oscar Segarra, Susana Redecillas, Gema Ariceta
Published 2018-06-01

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
Published 2021-04-01

Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses

by Katharina Iwan, Robert Clayton, Philippa Mills, Barbara Csanyi, Paul Gissen, Sara E. Mole, David N. Palmer, Kevin Mills, Wendy E. Heywood
Published 2021-02-01

A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C

by Line Modin, Vicky Ng, Paul Gissen, Julian Raiman, Eva Doreen Pfister, Anibh Das, René Santer, Hanna Faghfoury, Saikat Santra, Ulrich Baumann
Published 2021-09-01

Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment

by Julien Baruteau, Youssef Khalil, Stephanie Grunewald, Marta Zancolli, Anupam Chakrapani, Maureen Cleary, James Davison, Emma Footitt, Simon N. Waddington, Paul Gissen, Philippa Mills
Published 2019-11-01

Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys

by Julien Baruteau, Sharon C. Cunningham, Berna Seker Yilmaz, Dany P. Perocheau, Simon Eaglestone, Derek Burke, Adrian J. Thrasher, Simon N. Waddington, Leszek Lisowski, Ian E. Alexander, Paul Gissen
Published 2021-12-01

Author Correction: Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3

by Luigi Scietti, Antonella Chiapparino, Francesca De Giorgi, Marco Fumagalli, Lela Khoriauli, Solomon Nergadze, Shibom Basu, Vincent Olieric, Lucia Cucca, Blerida Banushi, Antonella Profumo, Elena Giulotto, Paul Gissen, Federico Forneris
Published 2018-09-01

Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3

by Luigi Scietti, Antonella Chiapparino, Francesca De Giorgi, Marco Fumagalli, Lela Khoriauli, Solomon Nergadze, Shibom Basu, Vincent Olieric, Lucia Cucca, Blerida Banushi, Antonella Profumo, Elena Giulotto, Paul Gissen, Federico Forneris
Published 2018-08-01

Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11 [v2; ref status: indexed, http://f1000r.es/yv]

by Kirsten E McKay, Christopher K Bruce, Jane L Hartley, A S Knisely, Ulrich Baumann, Sonja-Stephanie Bockisch, Ekkehard Sturm, Christian J Hendriksz, Deidre A Kelly, Fiona Macdonald, Paul Gissen
Published 2013-03-01

Clinical Pharmacokinetics and Pharmacodynamics of Cerliponase Alfa, Enzyme Replacement Therapy for CLN2 Disease by Intracerebroventricular Administration

by Aryun Kim, Anita Grover, Kevin Hammon, Greg deHart, Peter Slasor, Anu Cherukuri, Temitayo Ajayi, David Jacoby, Angela Schulz, Nicola Specchio, Emily deLos Reyes, Paul Gissen, Joshua W. Henshaw
Published 2021-03-01

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
Published 2020-06-01

Mouse decellularised liver scaffold improves human embryonic and induced pluripotent stem cells differentiation into hepatocyte-like cells.

by Maëlle Lorvellec, Federico Scottoni, Claire Crowley, Rebeca Fiadeiro, Panagiotis Maghsoudlou, Alessandro Filippo Pellegata, Francesca Mazzacuva, Asllan Gjinovci, Anne-Marie Lyne, Justine Zulini, Daniel Little, Olukunbi Mosaku, Deirdre Kelly, Paolo De Coppi, Paul Gissen
Published 2017-01-01

Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)

by Paul Gissen, Nicola Specchio, Andrew Olaye, Mohit Jain, Thomas Butt, Wrik Ghosh, Benjamin Ruban-Fell, Annabel Griffiths, Charlotte Camp, Zlatko Sisic, Christoph Schwering, Eva Wibbeler, Marina Trivisano, Laura Lee, Miriam Nickel, Amanda Mortensen, Angela Schulz
Published 2021-05-01

Optimization of Liver Decellularization Maintains Extracellular Matrix Micro-Architecture and Composition Predisposing to Effective Cell Seeding.

by Panagiotis Maghsoudlou, Fanourios Georgiades, Holly Smith, Anna Milan, Panicos Shangaris, Luca Urbani, Stavros P Loukogeorgakis, Benedetta Lombardi, Giuseppe Mazza, Charlotte Hagen, Neil J Sebire, Mark Turmaine, Simon Eaton, Alessandro Olivo, Jasminka Godovac-Zimmermann, Massimo Pinzani, Paul Gissen, Paolo De Coppi
Published 2016-01-01

An In Vitro Whole-Organ Liver Engineering for Testing of Genetic Therapies

by Maëlle Lorvellec, Alessandro Filippo Pellegata, Alice Maestri, Chiara Turchetta, Elena Alvarez Mediavilla, Soichi Shibuya, Brendan Jones, Federico Scottoni, Dany P. Perocheau, Andrei Claudiu Cozmescu, Juliette M. Delhove, Daniel Kysh, Asllan Gjinovci, John R. Counsell, Wendy E. Heywood, Kevin Mills, Tristan R. McKay, Paolo De Coppi, Paul Gissen
Published 2020-12-01

Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.

by Neil V Morgan, Mark R Morris, Hakan Cangul, Diane Gleeson, Anna Straatman-Iwanowska, Nicholas Davies, Stephen Keenan, Shanaz Pasha, Fatimah Rahman, Dean Gentle, Maaike P G Vreeswijk, Peter Devilee, Margaret A Knowles, Serdar Ceylaner, Richard C Trembath, Carlos Dalence, Erol Kismet, Vedat Köseoğlu, Hans-Christoph Rossbach, Paul Gissen, David Tannahill, Eamonn R Maher
Published 2010-02-01

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

by Julien Baruteau, Dany P. Perocheau, Joanna Hanley, Maëlle Lorvellec, Eridan Rocha-Ferreira, Rajvinder Karda, Joanne Ng, Natalie Suff, Juan Antinao Diaz, Ahad A. Rahim, Michael P. Hughes, Blerida Banushi, Helen Prunty, Mariya Hristova, Deborah A. Ridout, Alex Virasami, Simon Heales, Stewen J. Howe, Suzanne M. K. Buckley, Philippa B. Mills, Paul Gissen, Simon N. Waddington
Published 2018-08-01

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

by Sara E. Mole, Angela Schulz, Eben Badoe, Samuel F. Berkovic, Emily C. de Los Reyes, Simon Dulz, Paul Gissen, Norberto Guelbert, Charles M. Lourenco, Heather L. Mason, Jonathan W. Mink, Noreen Murphy, Miriam Nickel, Joffre E. Olaya, Maurizio Scarpa, Ingrid E. Scheffer, Alessandro Simonati, Nicola Specchio, Ina Von Löbbecke, Raymond Y. Wang, Ruth E. Williams
Published 2021-04-01