caa a22 4500 467932840 CHVBK 20180406152948.0 cr unu---uuuuu 170328e20061201xx s 000 0 eng 10.1007/s10545-006-0427-4 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0427-4 Sudden deterioration in nonclassical infantile-onset Pompe disease responding to alglucosidase alfa infusion therapy: A case report [Elektronische Daten] [S. Pascual-Pascual, P. Rubio, L. Albajara, M. Gutierrez, A. Chabas, F. Alvarado] Summary: A patient with atypical infantile Pompe disease suffered acute respiratory insufficiency at the age of 8 years which resulted in complete immobilization and dependence on assisted ventilation. Shortly after initiation of enzyme replacement therapy, she regained her mobility and, after 20 months of treatment, she now leads an almost normal life with limited restrictions. SSIEM and Springer, 2006 Pascual-Pascual S. Department of Paediatric Neurology, University Hospital La Paz, Paseo Castellana, 261, 28046, Madrid, Spain aut Rubio P. Department of Paediatrics, University Hospital La Paz, Madrid, Spain aut Albajara L. Department of Paediatrics, University Hospital La Paz, Madrid, Spain aut Gutierrez M. Department of Pathology, University Hospital La Paz, Madrid, Spain aut Chabas A. Institute of Clinical Biochemistry, Hospital Clinic, Barcelona, Spain aut Alvarado F. Department of Paediatric Intensive Care, University Hospital La Paz, Madrid, Spain aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/6(2006-12-01), 763-763 0141-8955 29:6<763 2006 29 10545 https://doi.org/10.1007/s10545-006-0427-4 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0427-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Pascual-Pascual S. Department of Paediatric Neurology, University Hospital La Paz, Paseo Castellana, 261, 28046, Madrid, Spain aut NATIONALLICENCE 700 1- Rubio P. Department of Paediatrics, University Hospital La Paz, Madrid, Spain aut NATIONALLICENCE 700 1- Albajara L. Department of Paediatrics, University Hospital La Paz, Madrid, Spain aut NATIONALLICENCE 700 1- Gutierrez M. Department of Pathology, University Hospital La Paz, Madrid, Spain aut NATIONALLICENCE 700 1- Chabas A. Institute of Clinical Biochemistry, Hospital Clinic, Barcelona, Spain aut NATIONALLICENCE 700 1- Alvarado F. Department of Paediatric Intensive Care, University Hospital La Paz, Madrid, Spain aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/6(2006-12-01), 763-763 0141-8955 29:6<763 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer