Issue 6/2018
Content (46 Articles)
Synaptic metabolism and brain circuitries in inborn errors of metabolism
Àngels García-Cazorla, Rafael Artuch, Àlex Bayès
Next-generation glycogen storage diseases
Terry G. J. Derks, Maaike H. Oosterveer, Carolina F. De Souza
Letter to the Editors: Concerning “Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia” by Lee et al.
Elizabeth D. Brooks, Priya S. Kishnani, Dwight D. Koeberl
Role of continuous glucose monitoring in the management of glycogen storage disorders
Mrudu Herbert, Surekha Pendyal, Mugdha Rairikar, Carine Halaby, Robert W. Benjamin, Priya S. Kishnani
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring
Irene J. Hoogeveen, Fabian Peeks, Foekje de Boer, Charlotte M. A. Lubout, Tom J. de Koning, Sebastiaan te Boekhorst, Robert-Jan Zandvoort, Rob Burghard, Francjan J. van Spronsen, Terry G. J. Derks
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study
Claudio Semplicini, Pascaline Letard, Marie De Antonio, Nadjib Taouagh, Barbara Perniconi, Françoise Bouhour, Andoni Echaniz-Laguna, David Orlikowski, Sabrina Sacconi, Emmanuelle Salort-Campana, Guilhem Solé, Fabien Zagnoli, Dalil Hamroun, Roseline Froissart, Catherine Caillaud, Pascal Laforêt, A. Béhin, B. Eymard, S. Leonard-Louis, T. Stojkovic, G. Bassez, P. G. Carlier, K. Laloui, G. Ollivier, A. Canal, J. Y. Hogrel, H. Prigent, C. Desnuelle, J. Pouget, M. Piraud, A. L. Bedat-Millet, F. Boyer, Y. Castaing, F. Chapon, P. Cintas, I. Durieu, A. Lacour, L. Feasson, A. Furby, D. Germain, K. Benistan, H. Journel, V. Tiffreau, C. Tard, J. Deibener-Kaminsky, A. Magot, Y. Péréon, M. C. Minot-Myhié, A. Nadaj-Pakleza, C. Nathier, N. Pellegrini, P. Petiot, J. Praline, D. Vincent, D. Renard, R. Y. Carlier, F. Bouibede, R. Juntas-Morales, E. Krim, E. Lagrange, L. Magy, M. Michaud
Dental and periodontal manifestations of glycogen storage diseases: a case series of 60 patients
Martin Biosse Duplan, Aurélie Hubert, Elvire Le Norcy, Alice Louzoun, Ariane Perry, Catherine Chaussain, Philippe Labrune
Polycystic kidney features of the renal pathology in glycogen storage disease type I: possible evolution to renal neoplasia
Monika Gjorgjieva, Laure Monteillet, Julien Calderaro, Gilles Mithieux, Fabienne Rajas
Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy
Elizabeth D. Brooks, Dustin J. Landau, Jeffrey I. Everitt, Talmage T. Brown, Kylie M. Grady, Lauren Waskowicz, Cameron R. Bass, John D’Angelo, Yohannes G. Asfaw, Kyha Williams, Priya S. Kishnani, Dwight D. Koeberl
Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia
Young Mok Lee, Thomas J. Conlon, Andrew Specht, Kirsten E. Coleman, Laurie M. Brown, Ana M. Estrella, Monika Dambska, Kathryn R. Dahlberg, David A. Weinstein
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
Alessandro Rossi, Margherita Ruoppolo, Pietro Formisano, Guglielmo Villani, Lucia Albano, Giovanna Gallo, Daniela Crisci, Augusta Moccia, Giancarlo Parenti, Pietro Strisciuglio, Daniela Melis
Sirtuin signaling controls mitochondrial function in glycogen storage disease type Ia
Jun-Ho Cho, Goo-Young Kim, Brian C. Mansfield, Janice Y. Chou
Molecular biology and gene therapy for glycogen storage disease type Ib
Janice Y. Chou, Jun-Ho Cho, Goo-Young Kim, Brian C. Mansfield
Development and characterization of an inducible mouse model for glycogen storage disease type Ib
Federica Raggi, Anna Livia Pissavino, Roberta Resaz, Daniela Segalerba, Andrea Puglisi, Cristina Vanni, Francesca Antonini, Genny Del Zotto, Alessandra Gamberucci, Paola Marcolongo, Maria Carla Bosco, Federica Grillo, Luca Mastracci, Alessandra Eva
Manifesting heterozygotes in McArdle disease: a myth or a reality—role of statins
Judit Núñez-Manchón, Alfonsina Ballester-Lopez, Emma Koehorst, Ian Linares-Pardo, Daniëlle Coenen, Ignacio Ara, Carlos Rodriguez-Lopez, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Giuseppe Lucente, Miriam Almendrote, Jaume Coll-Cantí, Guillem Pintos-Morell, Alejandro Santos-Lozano, Joaquin Arenas, Miguel Angel Martín, Mauricio de Castro, Alejandro Lucia, Alfredo Santalla, Gisela Nogales-Gadea
Non-osteogenic muscle hypertrophy in children with McArdle disease
I. Rodríguez-Gómez, A. Santalla, J. Díez-Bermejo, D. Munguía-Izquierdo, L. M. Alegre, G. Nogales-Gadea, J. Arenas, M. A. Martín, A. Lucía, I. Ara
Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology
Àngels García-Cazorla, Jean-Marie Saudubray
Synaptic metabolism: a new approach to inborn errors of neurotransmission
Alba Tristán-Noguero, Àngels García-Cazorla
Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms
Lucia Abela, Manju A. Kurian
Setting the stage for a role of the postsynaptic proteome in inherited neurometabolic disorders
Àlex Bayés
Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism
Sabine Jung-Klawitter, Thomas Opladen
Transcranial electrical stimulation (tES) mechanisms and its effects on cortical excitability and connectivity
Thomas Reed, Roi Cohen Kadosh
Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle
Elisenda Cortès-Saladelafont, Noa Lipstein, Àngels García-Cazorla
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience
Marta Batllori, Marta Molero-Luis, Aida Ormazabal, Raquel Montero, Cristina Sierra, Antonia Ribes, Julio Montoya, Eduardo Ruiz-Pesini, Mar O’Callaghan, Leticia Pias, Andrés Nascimento, Francesc. Palau, Judith Armstrong, Delia Yubero, Juan D. Ortigoza-Escobar, Angels García-Cazorla, Rafael Artuch
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population
Tina Shirzadeh, Amir Hossein Saeidian, Hamideh Bagherian, Shadab Salehpour, Aria Setoodeh, Mohammad Reza Alaei, Leila Youssefian, Ashraf Samavat, Andrew Touati, Mohammad-Sadegh Fallah, Hassan Vahidnezhad, Morteza Karimipoor, Sarah Azadmehr, Marzieh Raeisi, Ameneh Bandehi Sarhadi, Fatemeh Zafarghandi Motlagh, Mojdeh Jamali, Zahra Zeinali, Maryam Abiri, Sirous Zeinali, Fatemeh Valizadeh, Zohreh Sharifi, Fatemeh Golnabi, Mehdi Shafaat
The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD)
Julia Hesse, Carina Braun, Sidney Behringer, Uta Matysiak, Ute Spiekerkoetter, Sara Tucci
Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias
F. Molema, E. H. Jacobs, W. Onkenhout, G. C. Schoonderwoerd, J. G. Langendonk, Monique Williams
Newborn screening for Pompe disease: impact on families
B. Pruniski, E. Lisi, N. Ali
Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy
Jan C. van der Meijden, Michelle E. Kruijshaar, Laurike Harlaar, Dimitris Rizopoulos, Nadine A. M. E. van der Beek, Ans T. van der Ploeg
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial
Line Borgwardt, Nathalie Guffon, Yasmina Amraoui, Christine I. Dali, Linda De Meirleir, Mercedes Gil-Campos, Bénédicte Heron, Silvia Geraci, Diego Ardigò, Federica Cattaneo, Jens Fogh, J. M. Hannerieke Van den Hout, Michael Beck, Simon A. Jones, Anna Tylki-Szymanska, Ulla Haugsted, Allan M. Lund
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis
Allan M. Lund, Line Borgwardt, Federica Cattaneo, Diego Ardigò, Silvia Geraci, Mercedes Gil-Campos, Linda De Meirleir, Cécile Laroche, Philippe Dolhem, Duncan Cole, Anna Tylki-Szymanska, Monica Lopez-Rodriguez, Encarna Guillén-Navarro, Christine I. Dali, Bénédicte Héron, Jens Fogh, Nicole Muschol, Dawn Phillips, J. M. Hannerieke Van den Hout, Simon A. Jones, Yasmina Amraoui, Paul Harmatz, Nathalie Guffon
The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology
Young Bae Sohn, Ah-Ra Ko, Mi-ran Seong, Soyeon Lee, Mi Ra Kim, Sung Yoon Cho, Jung-Sun Kim, Makoto Sakaguchi, Takahiro Nakazawa, Motomichi Kosuga, Joo Hyun Seo, Torayuki Okuyama, Dong-Kyu Jin
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure
Esmee Oussoren, Irene M. J. Mathijssen, Margreet Wagenmakers, Rob M. Verdijk, Hansje H. Bredero-Boelhouwer, Marie-Lise C. van Veelen-Vincent, Jan C. van der Meijden, Johanna M. P. van den Hout, George J. G. Ruijter, Ans T. van der Ploeg, Mirjam Langeveld
Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa
Ari Zimran, Tama Dinur, Shoshana Revel-Vilk, Eric M. Akkerman, Laura van Dussen, Carla E. M. Hollak, Hannah Maayan, Gheona Altarescu, Raul Chertkoff, Mario Maas
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop
Saskia Koene, Lara van Bon, Enrico Bertini, Cecilia Jimenez-Moreno, Lianne van der Giessen, Imelda de Groot, Robert McFarland, Sumit Parikh, Shamima Rahman, Michelle Wood, Jiri Zeman, Anjo Janssen, Jan Smeitink
Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
A. Papandreou, S. Rahman, C. Fratter, J. Ng, E. Meyer, L. J. Carr, M. Champion, A. Clarke, P. Gissen, C. Hemingway, N. Hussain, S. Jayawant, M. D. King, B. J. Lynch, L. Mewasingh, J. Patel, P. Prabhakar, V. Neergheen, S. Pope, S. J. R. Heales, J. Poulton, Manju A. Kurian
Disulfiram enhanced delivery of orally administered copper into the central nervous system in Menkes disease mouse model
Takao Hoshina, Satoshi Nozaki, Takashi Hamazaki, Satoshi Kudo, Yuka Nakatani, Hiroko Kodama, Haruo Shintaku, Yasuyoshi Watanabe
Severe ichthyosis in MPDU1-CDG
Christian Thiel, Saskia Wortmann, Korbinian Riedhammer, Bader Alhaddad, Ertan Mayatepek, Holger Prokisch, Felix Distelmaier
Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins
Judit Núñez-Manchón, Alfonsina Ballester-Lopez, Emma Koehorst, Ian Linares-Pardo, Daniëlle Coenen, Ignacio Ara, Carlos Rodriguez-Lopez, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Giuseppe Lucente, Miriam Almendrote, Jaume Coll-Cantí, Guillem Pintos-Morell, Alejandro Santos-Lozano, Joaquin Arenas, Miguel Angel Martín, Mauricio de Castro, Alejandro Lucia, Alfredo Santalla, Gisela Nogales-Gadea
Correction to: Medical and financial burden of acute intermittent porphyria
Rochus A. Neeleman, Margreet A. E. M. Wagenmakers, Rita H. Koole-Lesuis, G. Sophie Mijnhout, J. H. Paul Wilson, Edith C. H. Friesema, Janneke G. Langendonk
Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
A. Papandreou, S. Rahman, C. Fratter, J. Ng, E. Meyer, L. J. Carr, M. Champion, A. Clarke, P. Gissen, C. Hemingway, N. Hussain, S. Jayawant, M. D. King, B. J. Lynch, L. Mewasingh, J. Patel, P. Prabhakar, V. Neergheen, S. Pope, S. J. R. Heales, J. Poulton, Manju A. Kurian