muscle disease with new therapeutic perspectives A.T. van der Ploeg M onitoring of pulmonary function and timely initiation of noninvasive ventilation should be a focus in supportive care for patients with muscular disorders. In the current issue of the European Respiratory Journal, PELLEGRINI et al. [1] focus on this aspect in patients with late-onset Pompe disease (glycogenosis type II, acid maltase deficiency) [1]. In Pompe disease, correct monitoring of pulmonary function and initiation of supportive care is even more relevant since new therapeutic developments are under-way. The first reports on the effects of enzyme therapy for this disease are promising [2–4]. Pompe disease is an autosomal, recessive, metabolic myopath
Juan Francisco Cabello,1 Deborah Marsden21Genetics and Metabolic Disease Laboratory, Nutrition and F...
Pompe disease, also known as Glycogen Storage Dis-ease type II (GSD II), is a rare autosomal recessi...
5noRespiratory failure is an unavoidable or very frequent event in the natural history of some neuro...
SummaryPompe disease is a single disease continuum that includes variable neuromuscular symptoms and...
Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myop...
Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myop...
Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder ...
Pompe disease, also known as glycogen storage disease type II, is an autosomal recessive disorder ca...
© The Author(s) 2011. This article is published with open access at Springerlink.com Introduction: P...
Pompe disease (PD) is an autosomal recessive lysosomal storage disorder (LSD) due to mutations which...
The world of metabolic myopathies has been dramatically modified by the advent of enzyme replacement...
Late-onset Pompe disease (LOPD) is characterized by progressive muscle weakness, respiratory muscle ...
Pompe disease (PD) is a metabolic myopathy caused by the deficiency of the lysosomal hydrolase acid ...
Pompe disease is a progressive metabolic myopathy. It is caused by a deficiency of the enzyme acid α...
Pompe's disease is an autosomal recessive myopathy. The characteristic lysosomal storage of glycogen...
Juan Francisco Cabello,1 Deborah Marsden21Genetics and Metabolic Disease Laboratory, Nutrition and F...
Pompe disease, also known as Glycogen Storage Dis-ease type II (GSD II), is a rare autosomal recessi...
5noRespiratory failure is an unavoidable or very frequent event in the natural history of some neuro...
SummaryPompe disease is a single disease continuum that includes variable neuromuscular symptoms and...
Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myop...
Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myop...
Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder ...
Pompe disease, also known as glycogen storage disease type II, is an autosomal recessive disorder ca...
© The Author(s) 2011. This article is published with open access at Springerlink.com Introduction: P...
Pompe disease (PD) is an autosomal recessive lysosomal storage disorder (LSD) due to mutations which...
The world of metabolic myopathies has been dramatically modified by the advent of enzyme replacement...
Late-onset Pompe disease (LOPD) is characterized by progressive muscle weakness, respiratory muscle ...
Pompe disease (PD) is a metabolic myopathy caused by the deficiency of the lysosomal hydrolase acid ...
Pompe disease is a progressive metabolic myopathy. It is caused by a deficiency of the enzyme acid α...
Pompe's disease is an autosomal recessive myopathy. The characteristic lysosomal storage of glycogen...
Juan Francisco Cabello,1 Deborah Marsden21Genetics and Metabolic Disease Laboratory, Nutrition and F...
Pompe disease, also known as Glycogen Storage Dis-ease type II (GSD II), is a rare autosomal recessi...
5noRespiratory failure is an unavoidable or very frequent event in the natural history of some neuro...