0000000000241903
AUTHOR
Joan Keutzer
showing 2 related works from this author
Methods for a prompt and reliable laboratory diagnosis of Pompe disease : report from an international consensus meeting
2008
Pompe disease is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). It presents at any age, with variable rates of progression ranging from a rapidly progressive course, often fatal by one-year of age, to a more slowly, but nevertheless relentlessly progressive course, resulting in significant morbidity and premature mortality. In infants, early initiation of enzyme replacement therapy is needed to gain the maximum therapeutic benefit, underscoring the need for early diagnosis. Several new methods for measuring GAA activity have been developed. The Pompe Disease Diagnostic Working Group met to review data gener…
Survival and developmental milestones among Pompe registry patients with classic infantile-onset Pompe disease with different timing of initiation of…
2014
s S62 strength in the arms (pulls self to stand: 72% vs 47%) and legs (bears weight on legs: 79% vs 66%). Results were similar when patients from Taiwan, who may have been identifi ed by newborn screening and not clinical diagnosis, were excluded. Earlier initiation of ERT in classic IOPD patients appears to improve the chances of survival and leads to better retention of muscle strength and improvement of symptoms in these young patients affected most severely by Pompe disease.