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Journal of Inherited Metabolic Disease

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Journal of Inherited Metabolic Disease is a journal indexed in ScholarIQ from OpenAlex.

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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Stefan Kölker, Ángeles García Cazorla, Vassili Valayannopoulos, Allan M. Lund, Alberto Burlina, Jolanta Sykut‐Cegielska, Frits A. Wijburg, Elisa Leão Teles, Jiri Zeman, Carlo Dionisi‐Vici, Ivo Barić, Daniela Karall, Persephone Augoustides‐Savvopoulou, Lise Aksglæde, Jean‐Baptiste Arnoux, Paula Avram, Matthias R. Baumgartner, Javier Blasco‐Alonso, B. Chabrol, Anupam Chakrapani, Kimberly A. Chapman, Elisenda Cortès i Saladelafont, María L. Couce, Linda De Meırleır, Dries Dobbelaere, Veronika Dvořáková, Francesca Furlan, Florian Gleich, Wanda Gradowska, Stephanie Grünewald, Anil Jalan, Johannes Häberle, Gisela Haege, Robin Lachmann, Alexander Laemmle, Eveline J. Langereis, Pascale de Lonlay, Diego Martinelli, Shirou Matsumoto, Chris Mühlhausen, Hélène Ogier de Baulny, C. Ortez, Luis Peña Quintana, Danijela Petković Ramadža, Esmeralda Rodrigues, Sabine Scholl‐Bürgi, Étienne Sokal, Christian Staufner, Marshall Summar, Nicholas J. Thompson, Roshni Vara, Inmaculada Vives Piñera, John H. Walter, Monique Williams, Peter Burgard
Journal of Inherited Metabolic Disease. 2015253 CitationsOPEN ACCESS
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Stefan Kölker, Vassili Valayannopoulos, Alberto Burlina, Jolanta Sykut‐Cegielska, Frits A. Wijburg, Elisa Leão Teles, Jiri Zeman, Carlo Dionisi‐Vici, Ivo Barić, Daniela Karall, Jean‐Baptiste Arnoux, Paula Avram, Matthias R. Baumgartner, Javier Blasco‐Alonso, S. P. Nikolas Boy, Malene Bøgehus Rasmussen, Peter Burgard, B. Chabrol, Anupam Chakrapani, Kimberly A. Chapman, Elisenda Cortès i Saladelafont, María L. Couce, Linda De Meırleır, Dries Dobbelaere, Francesca Furlan, Florian Gleich, Marı́a Julieta González, Wanda Gradowska, Stephanie Grünewald, Tomáš Honzík, Friederike Hörster, Hariklea Ioannou, Anil Jalan, Johannes Häberle, Gisela Haege, Eveline J. Langereis, Pascale de Lonlay, Diego Martinelli, Shirou Matsumoto, Chris Mühlhausen, Elaine Murphy, Hélène Ogier de Baulny, C. Ortez, Consuelo Pedrón, Guillem Pintos‐Morell, Luis Peña Quintana, Danijela Petković Ramadža, Esmeralda Rodrigues, Sabine Scholl‐Bürgi, Étienne Sokal, Marshall Summar, Nicholas J. Thompson, Roshni Vara, Inmaculada Vives Piñera, John H. Walter, Monique Williams, Allan M. Lund, Ángeles García Cazorla
Journal of Inherited Metabolic Disease. 2015239 CitationsOPEN ACCESS
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo‐controlled study
Christian J. Hendriksz, Barbara K. Burton, Thomas R. Fleming, Paul Harmatz, Derralynn Hughes, Simon Jones, Hsiang‐Yu Lin, Eugen Mengel, Maurizio Scarpa, Vassili Valayannopoulos, Roberto Giugliani, STRIVE Investigators, Peter Slasor, Debra L. Lounsbury, Wolfgang Dummer
Journal of Inherited Metabolic Disease. 2014211 CitationsOPEN ACCESS
Anaesthesia and airway management in mucopolysaccharidosis
Robert Walker, Kumar G. Belani, Elizabeth Braunlin, Iain Bruce, Henrik Hack, Paul Harmatz, Simon Jones, Richard Rowe, Guirish A. Solanki, Barbara Valdemarsson
Journal of Inherited Metabolic Disease. 2012147 CitationsOPEN ACCESS
Study of <i>LPIN1</i>, <i>LPIN2</i> and <i>LPIN3</i> in rhabdomyolysis and exercise‐induced myalgia
Caroline Michot, Laurence Hubert, Norma B. Romero, Amr S. Gouda, Asmaa Mamoune, Suja Ann Mathew, Edwin P. Kirk, Louis Viollet, Shamima Rahman, Soumeya Bekri, Heidi Peters, James M. McGill, Emma Glamuzina, Michelle A. Farrar, Maya der von Hagen, Ian E. Alexander, Brian Kirmse, Magalie Barth, Pascal Laforêt, Pascale Benlian, Arnold Münnich, Marc Jeanpierre, Orly Elpeleg, Ophry Pines, Agnès Delahodde, Yves de Keyzer, Pascale de Lonlay
Journal of Inherited Metabolic Disease. 201291 CitationsOPEN ACCESS

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