Laura Elizabeth Case

Journal article Mol Genet Metab · November 2012 Featured Publication Glycogen storage disorder type III (GSD III) is a rare autosomal recessive disorder resulting from a deficiency of glycogen debranching enzyme, critical in cytosolic glycogen degradation. GSD IIIa, the most common form of GSD III, primarily affects the liv ... Full text Open Access Link to item Cite

The emerging phenotype of long-term survivors with infantile Pompe disease.

Journal article Genet Med · September 2012 Featured Publication PURPOSE: Enzyme replacement therapy with alglucosidase alfa for infantile Pompe disease has improved survival creating new management challenges. We describe an emerging phenotype in a retrospective review of long-term survivors. METHODS: Inclusion criteri ... Full text Open Access Link to item Cite

The impact of antibodies in late-onset Pompe disease: a case series and literature review.

Journal article Mol Genet Metab · July 2012 Featured Publication Pompe disease (glycogen storage disease type II, GSD II) is an autosomal recessive disease caused by a deficiency of acid α-glucosidase (GAA), leading to lysosomal glycogen accumulation in various tissues, most notably cardiac, skeletal and smooth muscle. ... Full text Link to item Cite

Early cognitive development in children with infantile Pompe disease.

Journal article Mol Genet Metab · March 2012 Featured Publication This report describes the cognitive development of 17 children with infantile Pompe disease who participated in a 52-week clinical trial of enzyme replacement therapy (ERT) via biweekly infusion of Myozyme® (alglucosidase alfa). Subjects were six months of ... Full text Open Access Link to item Cite

Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations.

Journal article Am J Med Genet C Semin Med Genet · February 15, 2012 Featured Publication Enzyme replacement therapy (ERT) with alglucosidase alpha, approved by the FDA in 2006, has expanded possibilities for individuals with Pompe disease (glycogen storage disease type II, GSDII, or acid maltase deficiency). Children with infantile Pompe disea ... Full text Link to item Cite

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.

Journal article Genet Med · January 2012 Featured Publication PURPOSE: Infantile Pompe disease resulting from a deficiency of lysosomal acid α-glucosidase (GAA) requires enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA). Cross-reactive immunologic material negative (CRIM-negative) Pompe patients dev ... Full text Link to item Cite

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

Journal article Mol Genet Metab · December 2011 Featured Publication Pompe disease is a rare, autosomal recessive, progressively debilitating, and often fatal neuromuscular disorder. While scoliosis is common in many other neuromuscular disorders, there is little information on its prevalence and impact in Pompe disease. To ... Full text Link to item Cite

Pompe disease: design, methodology, and early findings from the Pompe Registry.

Journal article Mol Genet Metab · May 2011 Featured Publication Pompe disease is an autosomal recessive, progressive, debilitating, and often fatal neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase (GAA). It is characterized by the accumulation of glycogen in muscle tissue that leads to progre ... Full text Link to item Cite

Oropharyngeal dysphagia in infants and children with infantile Pompe disease.

Journal article Dysphagia · December 2010 Featured Publication Pompe disease is a rare genetic progressive neuromuscular disorder. The most severe form, infantile Pompe disease, has historically resulted in early mortality, most commonly due to cardiorespiratory failure. Treatment with enzyme replacement therapy (ERT) ... Full text Open Access Link to item Cite

Glycogen storage disease type III diagnosis and management guidelines.

Journal article Genet Med · July 2010 Featured Publication PURPOSE: Glycogen storage disease type III is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. It is caused by deficient activity of glycogen debranching enzyme, which is a key enzyme in glycogen degra ... Full text Link to item Cite

Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care.

Journal article Lancet Neurol · February 2010 Featured Publication Optimum management of Duchenne muscular dystrophy (DMD) requires a multidisciplinary approach that focuses on anticipatory and preventive measures as well as active interventions to address the primary and secondary aspects of the disorder. Implementing co ... Full text Link to item Cite

Lifeline. An interview of Kate Bushby.

Journal article Lancet Neurol · January 2010 Featured Publication Full text Link to item Cite

Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.

Journal article Mol Genet Metab · December 2008 Featured Publication Benefits of enzyme replacement therapy with Myozyme (alglucosidase alfa), anecdotally reported in late-onset Pompe disease, range from motor and pulmonary improvement in less severely affected patients, to stabilization with minimal improvement in those wi ... Full text Link to item Cite

Fractures in children with Pompe disease: a potential long-term complication.

Journal article Pediatr Radiol · May 2007 Featured Publication BACKGROUND: Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Classic infantile-onset disease, characterized by cardiome ... Full text Link to item Cite

Physical therapy management of Pompe disease.

Journal article Genet Med · May 2006 Featured Publication Pompe disease (Glycogen storage disease type II, GSDII, or acid maltase deficiency) is an autosomal recessive disorder characterized by deficiency of acid alpha-glucosidase resulting in intra-lysosomal accumulation of glycogen and leading to progressive mu ... Full text Link to item Cite

Pompe disease diagnosis and management guideline.

Journal article Genet Med · May 2006 Featured Publication Full text Link to item Cite

The effects of aerobic exercise on endurance, strength, function and self-perception in adolescents with spastic cerebral palsy: a report of three case studies.

Journal article Pediatr Phys Ther · 2005 Featured Publication PURPOSE: The purpose of this study was to investigate changes in endurance, strength, function, and self-perception before, during, and after aerobic exercise intervention in three ambulatory adolescents with spastic cerebral palsy. METHODS: Three individu ... Full text Link to item Cite

Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.

Journal article Genet Med · 2001 Featured Publication PURPOSE: Infantile glycogen storage disease type II (GSD-II) is a fatal genetic muscle disorder caused by deficiency of acid alpha-glucosidase (GAA). The purpose of this study was to investigate the safety and efficacy of recombinant human GAA (rhGAA) enzy ... Link to item Cite