Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Boonstra WF"'
Autor:
Hoogeveen IJ; Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center of Groningen, Groningen, The Netherlands., de Boer F; Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center of Groningen, Groningen, The Netherlands., Boonstra WF; Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center of Groningen, Groningen, The Netherlands., van der Schaaf CJ; Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center of Groningen, Groningen, The Netherlands., Steuerwald U; National Hospital of the Faroe Islands, Medical Center, Tórshavn, Faroe Islands., Sibeijn-Kuiper AJ; Neuroimaging Center, Department of Neuroscience, University Medical Center Groningen, Groningen, The Netherlands., Vegter RJK; Center for Human Movement Sciences, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., van der Hoeven JH; Department of Neurology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands., Heiner-Fokkema MR; Department of Laboratory Medicine, Laboratory of Metabolic Diseases, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Clarke KC; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK., Cox PJ; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK., Derks TGJ; Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center of Groningen, Groningen, The Netherlands., Jeneson JAL; Neuroimaging Center, Department of Neuroscience, University Medical Center Groningen, Groningen, The Netherlands.; Center for Child Development and Exercise, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Jan; Vol. 44 (1), pp. 226-239. Date of Electronic Publication: 2020 Sep 07.
Autor:
Peeks F; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Boonstra WF; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., de Baere L; Belgische Organisatie voor Kinderen en volwassenen met een Stofwisselingsziekte VZW, Belgium., Carøe C; Paediatric Nutrition, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark., Casswall T; Department of Pediatric Gastroenterology, Hepatology and Nutrition, Karolinska University Hospital.; CLINTEC, Karolinska Institutet, Stockholm, Sweden., Cohen D; Glucolatino, Rosario, Argentina., Cowan K; James Lind Alliance, University of Southampton, Southampton, UK., Ferrecchia I; Glycogen Storage Disease Program, University of Connecticut, Farmington, Connecticut.; Connecticut Children's Medical Center, Hartford, Connecticut.; Association for Glycogen Storage Disease., Ferriani A; Associação Brasileira de Glicogenose (ABGLICO), Brazil., Gimbert C; L'Association Francophone des Glycogénoses, France., Landgren M; Scandinavian Association for Glycogen Storage Disease (SAGSD), Sweden., Maldonado NL; Asociación Española de Enfermos de Glucogenosis, General Practitioner, Institut Català de la Salut (ICS), Barcelona, Spain., McMillan J; Association for Glycogen Storage Disease, UK., Nemeth A; Department of Pediatric Gastroenterology, Hepatology and Nutrition, Karolinska University Hospital.; CLINTEC, Karolinska Institutet, Stockholm, Sweden., Seidita N; Associazione Italiana Glicogenosi, Italy., Stachelhaus-Theimer U; Selbsthilfegruppe Glykogenose Deutschland e.V., Germany., Weinstein DA; Glycogen Storage Disease Program, University of Connecticut, Farmington, Connecticut.; Connecticut Children's Medical Center, Hartford, Connecticut., Derks TGJ; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 Mar; Vol. 43 (2), pp. 279-289. Date of Electronic Publication: 2019 Nov 13.
Autor:
Postma, Laura1 l.postma@umcg.nl, Luchtenberg, Malou L.1, Verhagen, A. A. Eduard1, Maeckelberghe, Els L. M.1
Publikováno v:
Health Expectations. Apr2024, Vol. 27 Issue 2, p1-12. 12p.
Publikováno v:
Research Involvement & Engagement; 9/20/2024, Vol. 10 Issue 1, p1-12, 12p
Autor:
Halligan, Rebecca K.1 (AUTHOR) r.halligan@nhs.net, Dalton, R. Neil2 (AUTHOR), Turner, Charles2 (AUTHOR), Lewis, Katherine A.1 (AUTHOR), Mundy, Helen R.1 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 5/12/2022, Vol. 17 Issue 1, p1-7. 7p.
Autor:
Hennis, Philip J.1 (AUTHOR) philip.hennis@ntu.ac.uk, Murphy, Elaine2 (AUTHOR), Meijer, Rick I.2,3 (AUTHOR), Lachmann, Robin H.2 (AUTHOR), Ramachandran, Radha4 (AUTHOR), Bordoli, Claire1 (AUTHOR), Rayat, Gurinder5 (AUTHOR), Tomlinson, David J.6 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 1/31/2022, Vol. 17 Issue 1, p1-12. 12p.
Autor:
Gugelmo G; Division of Metabolic Diseases, Department of Medicine, Padova University Hospital, Padova, 35128, Italy., Maines E; Division of Pediatrics, Santa Chiara General Hospital, APSS, Trento, 38122, Italy., Boscari F; Division of Metabolic Diseases, Department of Medicine, Padova University Hospital, Padova, 35128, Italy., Lenzini L; Department of Medicine, Padova University Hospital, Padova, 35128, Italy., Fadini GP; Division of Metabolic Diseases, Department of Medicine, Padova University Hospital, Padova, 35128, Italy., Burlina A; Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, Department of Women's and Children's Health, Padova University Hospital, Padova, 35128, Italy., Avogaro A; Division of Metabolic Diseases, Department of Medicine, Padova University Hospital, Padova, 35128, Italy., Vitturi N; Division of Metabolic Diseases, Department of Medicine, Padova University Hospital, Padova, 35128, Italy. nicola.vitturi@aopd.veneto.it.
Publikováno v:
Reviews in endocrine & metabolic disorders [Rev Endocr Metab Disord] 2024 Oct; Vol. 25 (5), pp. 897-910. Date of Electronic Publication: 2024 Oct 01.
Autor:
Evans, Jenna M.1 (AUTHOR) Jenna.Evans@mcmaster.ca, Gilbert, Julie E.2,3 (AUTHOR), Bacola, Jasmine3 (AUTHOR), Hagens, Victoria3 (AUTHOR), Simanovski, Vicky3 (AUTHOR), Holm, Philip4 (AUTHOR), Harvey, Rebecca4 (AUTHOR), Blake, Peter G.4,5 (AUTHOR), Matheson, Garth3 (AUTHOR)
Publikováno v:
Health Research Policy & Systems. 10/11/2021, Vol. 19 Issue 1, p1-17. 17p.
Autor:
Monteiro, Vaneisse C. L.1 (AUTHOR), de Oliveira, Bibiana M.1 (AUTHOR), dos Santos, Bruna B.1 (AUTHOR), Sperb-Ludwig, Fernanda1,2 (AUTHOR), Refosco, Lilia F.3 (AUTHOR), Nalin, Tatiele4 (AUTHOR), Derks, Terry G. J.5 (AUTHOR), Moura de Souza, Carolina F.3 (AUTHOR), Schwartz, Ida V. D.1,2,3,6,7 (AUTHOR) ischwartz@hcpa.edu.br
Publikováno v:
Orphanet Journal of Rare Diseases. 6/3/2021, Vol. 16 Issue 1, p1-10. 10p.
Autor:
Berling É; Généthon, Evry, France.; Université Paris-Saclay, Univ Evry, INSERM, Généthon, Integrare Research Unit UMR_S951, Evry, France., Laforêt P; APHP, Department of Neurology, Raymond Poincaré Hospital, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Garches, France.; INSERM U 1179, Université Versailles Saint Quentin en Yvelines, Paris-Saclay, France., Wahbi K; APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Paris-Descartes, Sorbonne Paris Cité University, Paris, France.; Sorbonne Paris Cité, Université Paris Descartes, Paris, France.; INSERM Unit 970, Paris Cardiovascular Research Centre (PARCC), Paris, France., Labrune P; APHP, Université Paris-Saclay, Hôpital Antoine Béclère, Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Service de Pédiatrie, 92141 Clamart cedex, France.; INSERM U1195, Université Paris-Saclay, Le Kremlin Bicêtre, France., Petit F; Department of Genetics, APHP, Université Paris Saclay, Hôpital Antoine Béclère, Clamart, France., Ronzitti G; Généthon, Evry, France.; Université Paris-Saclay, Univ Evry, INSERM, Généthon, Integrare Research Unit UMR_S951, Evry, France., O'Brien A; Généthon, Evry, France.; Service de Médecine Génique, Département de Médecine, Centre Hospitalier de l'Université de Montréal (CHUM), Montréal, Quebec, Canada.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 May; Vol. 44 (3), pp. 521-533. Date of Electronic Publication: 2021 Jan 03.