Inherited and acquired vitamin B12 deficiencies: Which administration route to choose for supplementation? by Ramyia Elangovan, Julien Baruteau, Julien Baruteau, Julien Baruteau

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Modelling urea cycle disorders using iPSCs by Claire Duff, Julien Baruteau

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The exosome journey: from biogenesis to uptake and intracellular signalling by Sonam Gurung, Dany Perocheau, Loukia Touramanidou, Julien Baruteau

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Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease by Berna Seker Yilmaz, Julien Baruteau, Ahad A. Rahim, 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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Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders by Mildrid Yeo, Preeya Rehsi, Megan Dorman, Stephanie Grunewald, Julien Baruteau, Anupam Chakrapani, Emma Footitt, Helen Prunty, Melanie McSweeney

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Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre by Mildrid Yeo, Preeya Rehsi, Megan Dorman, Stephanie Grunewald, Julien Baruteau, Anupam Chakrapani, Emma Footitt, Helen Prunty, Melanie McSweeney

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Cervical Gene Delivery of the Antimicrobial Peptide, Human β-Defensin (HBD)-3, in a Mouse Model of Ascending Infection-Related Preterm Birth by Natalie Suff, Natalie Suff, Natalie Suff, Rajvinder Karda, Juan Antinao Diaz, Joanne Ng, Julien Baruteau, Julien Baruteau, Dany Perocheau, Peter W. Taylor, Dagmar Alber, Suzanne M. K. Buckley, Mona Bajaj-Elliott, Mona Bajaj-Elliott, Simon N. Waddington, Simon N. Waddington, Donald Peebles

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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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Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects by Abigail Whitehouse, Preeya Rehsi, Louise Hartley, Stephanie Grunewald, Berna Seker Yilmaz, Kelly Pegoretti Baruteau, Ayhan Yaman, Suren Thavagnanam, Julien Baruteau

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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

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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

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Ex vivo precision-cut liver slices model disease phenotype and monitor therapeutic response for liver monogenic diseases [version 2; peer review: 2 approved] by Andrea Frassetto, Julien Baruteau, Lisa Rice, Paolo G.V. Martini, Alex Cavedon, Summar Siddiqui, Neil Sebire, Patrick F Finn, Claire Duff, Garima Sharma, Sonam Gurung, Loukia Touramanidou, Dany Perocheau

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Beclin‐1‐mediated activation of autophagy improves proximal and distal urea cycle disorders by Leandro R Soria, Sonam Gurung, Giulia De Sabbata, Dany P Perocheau, Angela De Angelis, Gemma Bruno, Elena Polishchuk, Debora Paris, Paola Cuomo, Andrea Motta, Michael Orford, Youssef Khalil, Simon Eaton, Philippa B Mills, Simon N Waddington, Carmine Settembre, Andrés F Muro, Julien Baruteau, Nicola Brunetti‐Pierri

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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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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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