Works matching IS 01418955 AND DT 2018 AND VI 41 AND IP 6

Results: 92
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    Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality‐role of statins.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1295, doi. 10.1007/s10545-018-0236-6
    By:
    • Núñez‐Manchón, Judit;
    • Ballester‐Lopez, Alfonsina;
    • Koehorst, Emma;
    • Linares‐Pardo, Ian;
    • Coenen, Daniëlle;
    • Ara, Ignacio;
    • Rodriguez‐Lopez, Carlos;
    • Ramos‐Fransi, Alba;
    • Martínez‐Piñeiro, Alicia;
    • Lucente, Giuseppe;
    • Almendrote, Miriam;
    • Coll‐Cantí, Jaume;
    • Pintos‐Morell, Guillem;
    • Santos‐Lozano, Alejandro;
    • Arenas, Joaquin;
    • Martín, Miguel Angel;
    • de Castro, Mauricio;
    • Lucia, Alejandro;
    • Santalla, Alfredo;
    • Nogales‐Gadea, Gisela
    Publication type:
    Article
    4

    Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1247, doi. 10.1007/s10545-018-0212-1
    By:
    • Oussoren, Esmee;
    • Mathijssen, Irene M. J.;
    • Wagenmakers, Margreet;
    • Verdijk, Rob M.;
    • Bredero‐Boelhouwer, Hansje H.;
    • van Veelen‐Vincent, Marie‐Lise C.;
    • van der Meijden, Jan C.;
    • van den Hout, Johanna M. P.;
    • Ruijter, George J. G.;
    • van der Ploeg, Ans T.;
    • Langeveld, Mirjam
    Publication type:
    Article
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    Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1275, doi. 10.1007/s10545-018-0227-7
    By:
    • Papandreou, A.;
    • Rahman, S.;
    • Fratter, C.;
    • Ng, J.;
    • Meyer, E.;
    • Carr, L. J.;
    • Champion, M.;
    • Clarke, A.;
    • Gissen, P.;
    • Hemingway, C.;
    • Hussain, N.;
    • Jayawant, S.;
    • King, M. D.;
    • Lynch, B. J.;
    • Mewasingh, L.;
    • Patel, J.;
    • Prabhakar, P.;
    • Neergheen, V.;
    • Pope, S.;
    • Heales, S. J. R.
    Publication type:
    Article
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    Severe ichthyosis in MPDU1‐CDG.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1293, doi. 10.1007/s10545-018-0189-9
    By:
    • Thiel, Christian;
    • Wortmann, Saskia;
    • Riedhammer, Korbinian;
    • Alhaddad, Bader;
    • Mayatepek, Ertan;
    • Prokisch, Holger;
    • Distelmaier, Felix
    Publication type:
    Article
    10

    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.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1235, doi. 10.1007/s10545-018-0221-0
    By:
    • Sohn, Young Bae;
    • Ko, Ah‐Ra;
    • Seong, Mi‐ran;
    • Lee, Soyeon;
    • Kim, Mi Ra;
    • Cho, Sung Yoon;
    • Kim, Jung‐Sun;
    • Sakaguchi, Makoto;
    • Nakazawa, Takahiro;
    • Kosuga, Motomichi;
    • Seo, Joo Hyun;
    • Okuyama, Torayuki;
    • Jin, Dong‐Kyu
    Publication type:
    Article
    11

    Comprehensive long‐term efficacy and safety of recombinant human alpha‐mannosidase (velmanase alfa) treatment in patients with alpha‐mannosidosis.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1225, doi. 10.1007/s10545-018-0175-2
    By:
    • Lund, Allan M.;
    • Borgwardt, Line;
    • Cattaneo, Federica;
    • Ardigò, Diego;
    • Geraci, Silvia;
    • Gil‐Campos, Mercedes;
    • De Meirleir, Linda;
    • Laroche, Cécile;
    • Dolhem, Philippe;
    • Cole, Duncan;
    • Tylki‐Szymanska, Anna;
    • Lopez‐Rodriguez, Monica;
    • Guillén‐Navarro, Encarna;
    • Dali, Christine I.;
    • Héron, Bénédicte;
    • Fogh, Jens;
    • Muschol, Nicole;
    • Phillips, Dawn;
    • Van den Hout, J. M. Hannerieke;
    • Jones, Simon A.
    Publication type:
    Article
    12

    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.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1215, doi. 10.1007/s10545-018-0185-0
    By:
    • Borgwardt, Line;
    • Guffon, Nathalie;
    • Amraoui, Yasmina;
    • Dali, Christine I.;
    • De Meirleir, Linda;
    • Gil‐Campos, Mercedes;
    • Heron, Bénédicte;
    • Geraci, Silvia;
    • Ardigò, Diego;
    • Cattaneo, Federica;
    • Fogh, Jens;
    • Van den Hout, J. M. Hannerieke;
    • Beck, Michael;
    • Jones, Simon A.;
    • Tylki‐Szymanska, Anna;
    • Haugsted, Ulla;
    • Lund, Allan M.
    Publication type:
    Article
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    Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1159, doi. 10.1007/s10545-018-0228-6
    By:
    • Shirzadeh, Tina;
    • Saeidian, Amir Hossein;
    • Bagherian, Hamideh;
    • Salehpour, Shadab;
    • Setoodeh, Aria;
    • Alaei, Mohammad Reza;
    • Youssefian, Leila;
    • Samavat, Ashraf;
    • Touati, Andrew;
    • Fallah, Mohammad‐Sadegh;
    • Vahidnezhad, Hassan;
    • Karimipoor, Morteza;
    • Azadmehr, Sarah;
    • Raeisi, Marzieh;
    • Bandehi Sarhadi, Ameneh;
    • Zafarghandi Motlagh, Fatemeh;
    • Jamali, Mojdeh;
    • Zeinali, Zahra;
    • Abiri, Maryam;
    • Zeinali, Sirous
    Publication type:
    Article
    18

    Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1147, doi. 10.1007/s10545-018-0224-x
    By:
    • Batllori, Marta;
    • Molero‐Luis, Marta;
    • Ormazabal, Aida;
    • Montero, Raquel;
    • Sierra, Cristina;
    • Ribes, Antonia;
    • Montoya, Julio;
    • Ruiz‐Pesini, Eduardo;
    • O'Callaghan, Mar;
    • Pias, Leticia;
    • Nascimento, Andrés;
    • Palau, Francesc.;
    • Armstrong, Judith;
    • Yubero, Delia;
    • Ortigoza‐Escobar, Juan D.;
    • García‐Cazorla, Angels;
    • Artuch, Rafael
    Publication type:
    Article
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    Lipids and synaptic functions.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1117, doi. 10.1007/s10545-018-0204-1
    By:
    • Mochel, Fanny
    Publication type:
    Article
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    Non‐osteogenic muscle hypertrophy in children with McArdle disease.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1037, doi. 10.1007/s10545-018-0170-7
    By:
    • Rodríguez‐Gómez, I.;
    • Santalla, A.;
    • Díez‐Bermejo, J.;
    • Munguía‐Izquierdo, D.;
    • Alegre, L. M.;
    • Nogales‐Gadea, G.;
    • Arenas, J.;
    • Martín, M. A.;
    • Lucía, A.;
    • Ara, I.
    Publication type:
    Article
    29

    Manifesting heterozygotes in McArdle disease: a myth or a reality—role of statins.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1027, doi. 10.1007/s10545-018-0203-2
    By:
    • Núñez‐Manchón, Judit;
    • Ballester‐Lopez, Alfonsina;
    • Koehorst, Emma;
    • Linares‐Pardo, Ian;
    • Coenen, Daniëlle;
    • Ara, Ignacio;
    • Rodriguez‐Lopez, Carlos;
    • Ramos‐Fransi, Alba;
    • Martínez‐Piñeiro, Alicia;
    • Lucente, Giuseppe;
    • Almendrote, Miriam;
    • Coll‐Cantí, Jaume;
    • Pintos‐Morell, Guillem;
    • Santos‐Lozano, Alejandro;
    • Arenas, Joaquin;
    • Martín, Miguel Angel;
    • de Castro, Mauricio;
    • Lucia, Alejandro;
    • Santalla, Alfredo;
    • Nogales‐Gadea, Gisela
    Publication type:
    Article
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    Late‐onset Pompe disease in France: molecular features and epidemiology from a nationwide study.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 937, doi. 10.1007/s10545-018-0243-7
    By:
    • Semplicini, Claudio;
    • Letard, Pascaline;
    • De Antonio, Marie;
    • Taouagh, Nadjib;
    • Perniconi, Barbara;
    • Bouhour, Françoise;
    • Echaniz‐Laguna, Andoni;
    • Orlikowski, David;
    • Sacconi, Sabrina;
    • Salort‐Campana, Emmanuelle;
    • Solé, Guilhem;
    • Zagnoli, Fabien;
    • Hamroun, Dalil;
    • Froissart, Roseline;
    • Caillaud, Catherine;
    • Laforêt, Pascal;
    • French Pompe Study Group
    Publication type:
    Article
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    Response letter.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 915, doi. 10.1007/s10545-018-0249-1
    By:
    • Lee, Youngmok;
    • Chou, Janice Y.;
    • Weinstein, David A.
    Publication type:
    Article
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    Next‐generation glycogen storage diseases.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 911, doi. 10.1007/s10545-018-00250-0
    By:
    • Derks, Terry G. J.;
    • Oosterveer, Maaike H.;
    • De Souza, Carolina F.
    Publication type:
    Article
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    View from inside.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 905, doi. 10.1007/s10545-018-0183-2
    By:
    • Wylie, Faye
    Publication type:
    Article
    46

    View from inside.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 901, doi. 10.1007/s10545-018-0214-z
    By:
    • Halai, Jyoti
    Publication type:
    Article
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    Next-generation glycogen storage diseases.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 911, doi. 10.1007/s10545-018-00250-0
    By:
    • Derks, Terry G. J.;
    • Oosterveer, Maaike H.;
    • De Souza, Carolina F.
    Publication type:
    Article
    49

    Response letter.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 915, doi. 10.1007/s10545-018-0249-1
    By:
    • Lee, Youngmok;
    • Chou, Janice Y.;
    • Weinstein, David A.
    Publication type:
    Article
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