Pompe disease
Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement
... the Pompe Disease Newborn Screening Working Group to discuss and develop the recommendations provided in all articles comprising the Newborn Screening, Diagnosis, and Treatment for Pompe ...
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The Role of Genetic Counseling in Pompe Disease After Patients Are Identified Through Newborn Screening
... with Pompe disease are obligate heterozygotes (carriers) for a pathogenic variant in GAA , although they may inherit different ...with Pompe disease has a child with another individual with ...
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Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program
... Core stability has not been trained previously in neuro- muscular disorders presenting with limb-girdle weakness. One possible reason may lie in the assumption that core stability exercises are not feasible for such ...
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A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
... of Pompe disease, reveglucosidase alfa is taken up by skeletal muscle cells with greater efficiency than rhGAA [15] and is more effective at reducing glyco- gen in skeletal muscle ...
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Post mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report
... or Pompe disease is a monogenic autosomal recessive disorder caused by a deficiency of α-1,4-glucosidase, an enzyme required for the degradation of lysosomal glycogen ...Johannes Pompe in 1932 [4]. ...
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The Incidence of Late Onset Pompe Disease in Subjects with Obstructive Sleep Apnea: A Cross Sectional Study
... Late-onset Pompe disease may be a contributing factor in these ...late-onset Pompe disease in a pop- ulation diagnosed with obstructive sleep ...late-onset Pompe disease in ...
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Analysis of voice quality in patients with late-onset Pompe disease
... Results: Dysphonia observed in patients with late-onset Pompe disease is mainly caused by dysfunction of vocal fold closure and weakness of vocal muscle. However, substantial speech nasality is caused by ...
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Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program
... Enzyme reactions at pH 3.8 and pH 7.0 were com- posed of 50 L of substrate solution, 10 L of deionized water, and 40 L of DBS extract. For enzyme reactions in the presence of inhibitor, the water was replaced by 10 ...
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Improved efficacy of a next-generation ERT in murine Pompe disease
... A major drawback of alglucosidase alfa is its poor targeting to skeletal muscles. The uptake of rhGAA into cells and its subsequent delivery to lysosomes are mediated by the cation-independent mannose-6-phos- phate ...
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Childhood Pompe disease: clinical spectrum and genotype in 31 patients
... of Pompe disease, we wished to gain knowledge of specific clinical characteristics and ...the Pompe Center in Rotterdam, the Netherlands, between 1975 and 2012, excluding those with the ...
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Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report
... Abstract: Pompe disease is a rare autosomal recessive hereditary disease caused by genetic defects of acid ...This disease could be divided into two forms: infantile and late-onset, which ...
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Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment
... for Pompe disease. Five had the rapidly progressive form of Pompe dis- ease, characterized by cardiac and motor involvement, and were treated soon after ...whose disease was diagnosed ...
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Public support for neonatal screening for Pompe disease, a broad-phenotype condition
... The rather high public support measured in the Nether- lands for neonatal screening for Pompe disease may be shared by citizens of other countries with a similar level of health care. Yet in other countries ...
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The humanistic burden of Pompe disease: are there still unmet needs? A systematic review
... Results: No publications on the humanistic burden of infantile-onset Pompe disease (IOPD) were identified. As such, of 17 publications included here, all are in patients with late-onset Pompe ...
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Newborn Screening for Pompe Disease: Synthesis of the Evidence and Development of Screening Recommendations
... for Pompe disease as “pilot study of screening recommended,” because of the clear benefit of alglucosidase alfa for children with infantile Pompe ...late-onset Pompe disease, and the ...
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Nephrotic Syndrome Complicating α-Glucosidase Replacement Therapy for Pompe Disease
... with Pompe disease who developed reversible nephrotic syndrome during prolonged, high-dose, experimental, enzyme replace- ment therapy with recombinant human acid ␣-glucosi- dase ...storage disease ...
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Clinical and Technological Dependence Characteristics on a Series of Brazilian Cases with Infantile Onset Pompe Disease in Enzyme Replacement Therapy
... Pompe disease (PD) is a rare inborn error of metabolism due to an abnormal acid alpha-glucosidase (GAA) activity that comprises glycogen breakdown mainly in the ...International Pompe Disease ...
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Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease
... the disease when treated with ST or ...and disease duration in the quality of life and costs regres- sion models, and by using wheelchair and ventilator use in the survival model, we tried to correct for ...
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Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy
... diagnosed Pompe patients currently start with enzyme replacement therapy, this study might have been the very last chance to collect data on the natural course of Pompe ...
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Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe disease
... infantile Pompe disease is characterized by the accumulation of glycogen-loaded lysosomes causing cel- lular hypertrophy, the disorganization and rarefaction of organelles, and cell dysfunction especially ...
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