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Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1131, doi. 10.1007/s10545-018-0230-z
By:
- Cortès‐Saladelafont, Elisenda;
- Lipstein, Noa;
- García‐Cazorla, Àngels
Publication type:
Article
Molecular biology and gene therapy for glycogen storage disease type Ib.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1007, doi. 10.1007/s10545-018-0180-5
By:
- Chou, Janice Y.;
- Cho, Jun‐Ho;
- Kim, Goo‐Young;
- Mansfield, Brian C.
Publication type:
Article
Transcranial electrical stimulation (tES) mechanisms and its effects on cortical excitability and connectivity.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1123, doi. 10.1007/s10545-018-0181-4
By:
- Reed, Thomas;
- Cohen Kadosh, Roi
Publication type:
Article
Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1077, doi. 10.1007/s10545-018-0205-0
By:
- Abela, Lucia;
- Kurian, Manju A.
Publication type:
Article
Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1299, doi. 10.1007/s10545-018-0247-3
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
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
Correction to: Medical and financial burden of acute intermittent porphyria.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1297, doi. 10.1007/s10545-018-0216-x
By:
- Neeleman, Rochus A.;
- Wagenmakers, Margreet A. E. M.;
- Koole‐Lesuis, Rita H.;
- Mijnhout, G. Sophie;
- Wilson, J. H. Paul;
- Friesema, Edith C. H.;
- Langendonk, Janneke G.
Publication type:
Article
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
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
Disulfiram enhanced delivery of orally administered copper into the central nervous system in Menkes disease mouse model.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1285, doi. 10.1007/s10545-018-0239-3
By:
- Hoshina, Takao;
- Nozaki, Satoshi;
- Hamazaki, Takashi;
- Kudo, Satoshi;
- Nakatani, Yuka;
- Kodama, Hiroko;
- Shintaku, Haruo;
- Watanabe, Yasuyoshi
Publication type:
Article
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi‐based international workshop.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1267, doi. 10.1007/s10545-018-0229-5
By:
- Koene, Saskia;
- van Bon, Lara;
- Bertini, Enrico;
- Jimenez‐Moreno, Cecilia;
- van der Giessen, Lianne;
- de Groot, Imelda;
- McFarland, Robert;
- Parikh, Sumit;
- Rahman, Shamima;
- Wood, Michelle;
- Zeman, Jiri;
- Janssen, Anjo;
- Smeitink, Jan
Publication type:
Article
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
Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1259, doi. 10.1007/s10545-018-0195-y
By:
- Zimran, Ari;
- Dinur, Tama;
- Revel‐Vilk, Shoshana;
- Akkerman, Eric M.;
- van Dussen, Laura;
- Hollak, Carla E. M.;
- Maayan, Hannah;
- Altarescu, Gheona;
- Chertkoff, Raul;
- Maas, Mario
Publication type:
Article
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
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
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
Long‐term follow‐up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1205, doi. 10.1007/s10545-018-0166-3
By:
- van der Meijden, Jan C.;
- Kruijshaar, Michelle E.;
- Harlaar, Laurike;
- Rizopoulos, Dimitris;
- van der Beek, Nadine A. M. E.;
- van der Ploeg, Ans T.
Publication type:
Article
Newborn screening for Pompe disease: impact on families.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1189, doi. 10.1007/s10545-018-0159-2
By:
- Pruniski, B.;
- Lisi, E.;
- Ali, N.
Publication type:
Article
Fibroblast growth factor 21 as a biomarker for long‐term complications in organic acidemias.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1179, doi. 10.1007/s10545-018-0244-6
By:
- Molema, F.;
- Jacobs, E. H.;
- Onkenhout, W.;
- Schoonderwoerd, G. C.;
- Langendonk, J. G.;
- Williams, Monique
Publication type:
Article
The diagnostic challenge in very‐long chain acyl‐CoA dehydrogenase deficiency (VLCADD).
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1169, doi. 10.1007/s10545-018-0245-5
By:
- Hesse, Julia;
- Braun, Carina;
- Behringer, Sidney;
- Matysiak, Uta;
- Spiekerkoetter, Ute;
- Tucci, Sara
Publication type:
Article
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
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
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
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
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
Role of continuous glucose monitoring in the management of glycogen storage disorders.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 917, doi. 10.1007/s10545-018-0200-5
By:
- Herbert, Mrudu;
- Pendyal, Surekha;
- Rairikar, Mugdha;
- Halaby, Carine;
- Benjamin, Robert W.;
- Kishnani, Priya S.
Publication type:
Article
Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1103, doi. 10.1007/s10545-018-0225-9
By:
- Jung‐Klawitter, Sabine;
- Opladen, Thomas
Publication type:
Article
Setting the stage for a role of the postsynaptic proteome in inherited neurometabolic disorders.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1093, doi. 10.1007/s10545-018-0240-x
By:
- Bayés, Àlex
Publication type:
Article
Synaptic metabolism: a new approach to inborn errors of neurotransmission.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1065, doi. 10.1007/s10545-018-0235-7
By:
- Tristán‐Noguero, Alba;
- García‐Cazorla, Àngels
Publication type:
Article
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
Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1055, doi. 10.1007/s10545-018-0201-4
By:
- Kölker, Stefan
Publication type:
Article
Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1043, doi. 10.1007/s10545-018-0226-8
By:
- García‐Cazorla, Àngels;
- Saudubray, Jean‐Marie
Publication type:
Article
Sirtuin signaling controls mitochondrial function in glycogen storage disease type Ia.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 997, doi. 10.1007/s10545-018-0192-1
By:
- Cho, Jun‐Ho;
- Kim, Goo‐Young;
- Mansfield, Brian C.;
- Chou, Janice Y.
Publication type:
Article
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
Development and characterization of an inducible mouse model for glycogen storage disease type Ib.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1015, doi. 10.1007/s10545-018-0211-2
By:
- Raggi, Federica;
- Pissavino, Anna Livia;
- Resaz, Roberta;
- Segalerba, Daniela;
- Puglisi, Andrea;
- Vanni, Cristina;
- Antonini, Francesca;
- Del Zotto, Genny;
- Gamberucci, Alessandra;
- Marcolongo, Paola;
- Bosco, Maria Carla;
- Grillo, Federica;
- Mastracci, Luca;
- Eva, Alessandra
Publication type:
Article
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.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 913, doi. 10.1007/s10545-018-0248-2
By:
- Brooks, Elizabeth D.;
- Kishnani, Priya S.;
- Koeberl, Dwight D.
Publication type:
Article
Long‐term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 977, doi. 10.1007/s10545-018-0199-7
By:
- Lee, Young Mok;
- Conlon, Thomas J.;
- Specht, Andrew;
- Coleman, Kirsten E.;
- Brown, Laurie M.;
- Estrella, Ana M.;
- Dambska, Monika;
- Dahlberg, Kathryn R.;
- Weinstein, David A.
Publication type:
Article
Insulin‐resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 985, doi. 10.1007/s10545-018-0149-4
By:
- Rossi, Alessandro;
- Ruoppolo, Margherita;
- Formisano, Pietro;
- Villani, Guglielmo;
- Albano, Lucia;
- Gallo, Giovanna;
- Crisci, Daniela;
- Moccia, Augusta;
- Parenti, Giancarlo;
- Strisciuglio, Pietro;
- Melis, Daniela
Publication type:
Article
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
Long‐term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 965, doi. 10.1007/s10545-018-0223-y
By:
- Brooks, Elizabeth D.;
- Landau, Dustin J.;
- Everitt, Jeffrey I.;
- Brown, Talmage T.;
- Grady, Kylie M.;
- Waskowicz, Lauren;
- Bass, Cameron R.;
- D'Angelo, John;
- Asfaw, Yohannes G.;
- Williams, Kyha;
- Kishnani, Priya S.;
- Koeberl, Dwight D.
Publication type:
Article
Polycystic kidney features of the renal pathology in glycogen storage disease type I: possible evolution to renal neoplasia.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 955, doi. 10.1007/s10545-018-0207-y
By:
- Gjorgjieva, Monika;
- Monteillet, Laure;
- Calderaro, Julien;
- Mithieux, Gilles;
- Rajas, Fabienne
Publication type:
Article
Dental and periodontal manifestations of glycogen storage diseases: a case series of 60 patients.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 947, doi. 10.1007/s10545-018-0182-3
By:
- Biosse Duplan, Martin;
- Hubert, Aurélie;
- Le Norcy, Elvire;
- Louzoun, Alice;
- Perry, Ariane;
- Chaussain, Catherine;
- Labrune, Philippe
Publication type:
Article
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 929, doi. 10.1007/s10545-018-0167-2
By:
- Hoogeveen, Irene J.;
- Peeks, Fabian;
- de Boer, Foekje;
- Lubout, Charlotte M. A.;
- de Koning, Tom J.;
- te Boekhorst, Sebastiaan;
- Zandvoort, Robert‐Jan;
- Burghard, Rob;
- van Spronsen, Francjan J.;
- Derks, Terry G. J.
Publication type:
Article
Synaptic metabolism and brain circuitries in inborn errors of metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 909, doi. 10.1007/s10545-018-00252-y
By:
- García‐Cazorla, Àngels;
- Artuch, Rafael;
- Bayès, Àlex
Publication type:
Article
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
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
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
Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1205, doi. 10.1007/s10545-018-0166-3
By:
- van der Meijden, Jan C.;
- Kruijshaar, Michelle E.;
- Harlaar, Laurike;
- Rizopoulos, Dimitris;
- van der Beek, Nadine A. M. E.;
- van der Ploeg, Ans T.
Publication type:
Article
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 985, doi. 10.1007/s10545-018-0149-4
By:
- Rossi, Alessandro;
- Ruoppolo, Margherita;
- Formisano, Pietro;
- Villani, Guglielmo;
- Albano, Lucia;
- Gallo, Giovanna;
- Crisci, Daniela;
- Moccia, Augusta;
- Parenti, Giancarlo;
- Strisciuglio, Pietro;
- Melis, Daniela
Publication type:
Article
Newborn screening for Pompe disease: impact on families.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1189, doi. 10.1007/s10545-018-0159-2
By:
- Pruniski, B.;
- Lisi, E.;
- Ali, N.
Publication type:
Article

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