Childhood Pompe disease: clinical spectrum and genotype in 31 patients.

Autor: van Capelle CI; Pompe Center and Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Room Sb-1629, P.O. BOX 2060, 3000 CB, Rotterdam, The Netherlands., van der Meijden JC; Pompe Center and Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Room Sb-1629, P.O. BOX 2060, 3000 CB, Rotterdam, The Netherlands., van den Hout JM; Pompe Center and Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Room Sb-1629, P.O. BOX 2060, 3000 CB, Rotterdam, The Netherlands., Jaeken J; Centre for Metabolic Disease, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium., Baethmann M; Department of Pediatrics, Hospital 'Dritter Orden', Munich, Germany., Voit T; NIHR Biomedical Research Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, UK., Kroos MA; Pompe Center and Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Room Sb-1629, P.O. BOX 2060, 3000 CB, Rotterdam, The Netherlands., Derks TG; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Rubio-Gozalbo ME; Department of Pediatrics and Laboratory Genetic Metabolic Diseases, Maastricht University Medical Center, Maastricht, The Netherlands., Willemsen MA; Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands., Lachmann RH; Charles Dent Metabolic Unit at University College London Hospitals, London, UK., Mengel E; Villa Metabolica, Centre for Pediatric and Adolescent Medicine, Mainz, Germany., Michelakakis H; Department of Enzymology and Cellular Function, Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece., de Jongste JC; Department of Pediatrics, Division of Pediatric Respiratory Medicine, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Reuser AJ; Pompe Center and Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Room Sb-1629, P.O. BOX 2060, 3000 CB, Rotterdam, The Netherlands., van der Ploeg AT; Pompe Center and Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Room Sb-1629, P.O. BOX 2060, 3000 CB, Rotterdam, The Netherlands. a.vanderploeg@erasmusmc.nl.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2016 May 18; Vol. 11 (1), pp. 65. Date of Electronic Publication: 2016 May 18.

Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome.

Autor: Ebbink BJ; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center - Sophia Children's Hospital, P.O. Box 2060, 3000 CB, Rotterdam, The Netherlands., Brands MM; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center - Sophia Children's Hospital, P.O. Box 2060, 3000 CB, Rotterdam, The Netherlands., van den Hout JM; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center - Sophia Children's Hospital, P.O. Box 2060, 3000 CB, Rotterdam, The Netherlands.; Department of Pediatric Neurology, Erasmus University Medical Center - Sophia Children's Hospital, Rotterdam, The Netherlands., Lequin MH; Department of Radiology, Erasmus University Medical Center, Rotterdam, The Netherlands., Coebergh van den Braak RR; Department of Pediatrics, Erasmus University Medical Center - Sophia Children's Hospital, Rotterdam, The Netherlands., van de Weitgraven RL; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center - Sophia Children's Hospital, P.O. Box 2060, 3000 CB, Rotterdam, The Netherlands., Plug I; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center - Sophia Children's Hospital, P.O. Box 2060, 3000 CB, Rotterdam, The Netherlands., Aarsen FK; Department of Pediatric Neurology, Erasmus University Medical Center - Sophia Children's Hospital, Rotterdam, The Netherlands., van der Ploeg AT; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center - Sophia Children's Hospital, P.O. Box 2060, 3000 CB, Rotterdam, The Netherlands. a.vanderploeg@erasmusmc.nl.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2016 Mar; Vol. 39 (2), pp. 285-92. Date of Electronic Publication: 2015 Oct 08.

Development of a rapid simultaneous assay of two urinary tetrasaccharide metabolites using differential ion mobility and tandem mass spectrometry and its application to patients with glycogen storage disease (type Ib and II).

Autor: Ren, Jianwei¹ (AUTHOR), Ma, Yufang¹ (AUTHOR), Ma, Mingsheng² (AUTHOR), Ding, Juan² (AUTHOR), Jiang, Jingjing² (AUTHOR), Zheng, Xin¹ (AUTHOR) zhengxin1@pumch.cn, Han, Xiaohong¹ (AUTHOR) hanxiaohong@pumch.cn

Publikováno v: Analytical & Bioanalytical Chemistry. Nov2023, Vol. 415 Issue 27, p6863-6871. 9p.

Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy.

Autor: Spiridigliozzi GA, Heller JH, Kishnani PS, Van der Ploeg AT, Ebbink BJ, Aarsen FK, van Gelder CM, Van den Hout JM

Publikováno v: Neurology [Neurology] 2013 Mar 19; Vol. 80 (12), pp. 1173.

Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy.

Autor: van Gelder CM; Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, PO Box 2060, 3000 CB Rotterdam, the Netherlands., van Capelle CI, Ebbink BJ, Moor-van Nugteren I, van den Hout JM, Hakkesteegt MM, van Doorn PA, de Coo IF, Reuser AJ, de Gier HH, van der Ploeg AT

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2012 May; Vol. 35 (3), pp. 505-11. Date of Electronic Publication: 2011 Oct 19.