Results 191 to 200 of about 8,804 (200)
Some of the next articles are maybe not open access.

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

Human Mutation, 2008
Robert J Pomponio   +2 more
exaly  

Development of a disease-specific disability instrument for Pompe disease

Developmental Neurorehabilitation, 2003
Stephen M Haley, Pengsheng Ni
exaly  

IN-UTERO DETECTION OF POMPE'S DISEASE

The Lancet, 1970
R P, Cox   +4 more
openaire   +2 more sources

Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology

Molecular Therapy, 2017
Bruno Bembi   +2 more
exaly  

Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2012
Sarah P Young   +2 more
exaly  

The prevalence and impact of scoliosis in Pompe disease: Lessons learned from the Pompe Registry

Molecular Genetics and Metabolism, 2011
Mark Roberts   +2 more
exaly  

Pompe Disease

2009
Markus Braun-Falco   +199 more
openaire   +1 more source

PRENATAL DETECTION OF POMPE'S DISEASE

The Lancet, 1970
H L, Nadler, R H, Bigley, G, Hug
openaire   +2 more sources

Case report: Pompe disease

Acta Cardiologica
Shuyi, Hu   +3 more
openaire   +2 more sources

Pompe Disease

2012
Reuser, Arnold, van der Ploeg, Ans
openaire   +1 more source

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