Long‐term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12272
Abstract: Despite a wide clinical spectrum, the adult form of Pompe disease is the most common one, and represents more than 90% of diagnosed patients in France. Since the marketing of enzyme replacement therapy (alglucosidase alfa,… read more here.
Keywords: replacement therapy; therapy alglucosidase; enzyme replacement; pompe ... See more keywords
Registro español de la enfermedad de Pompe: análisis de los primeros 49 pacientes con enfermedad de Pompe del adulto
Sign Up to like & getrecommendations! Published in 2020 at "Medicina Clinica"
DOI: 10.1016/j.medcli.2019.03.036
Abstract: Resumen Introduccion y objetivos La enfermedad de Pompe es una enfermedad rara con herencia autosomica recesiva por un deficit de maltasa acida. Este deficit produce un acumulo de glucogeno en los tejidos. Desde una perspectiva… read more here.
Keywords: los pacientes; registro; pompe; enfermedad pompe ... See more keywords
Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: A pilot study of reliability, longitudinal change and correlation with function
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DOI: 10.1016/j.ymgmr.2021.100785
Abstract: Background/objectives Late-onset Pompe disease (LOPD) is slowly progressive, making it difficult to assess clinical change and response to interventions. In this study, quantitative muscle ultrasonography (QMUS) and electrical impedance myography (EIM) were evaluated as potential… read more here.
Keywords: late onset; pompe; muscle; onset pompe ... See more keywords
Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays
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DOI: 10.1038/s41431-019-0348-y
Abstract: Analyses in our diagnostic DNA laboratory include genes involved in autosomal recessive (AR) lysosomal storage disorders such as glycogenosis type II (Pompe disease) and mucopolysaccharidosis type I (MPSI, Hurler disease). We encountered 4 cases with… read more here.
Keywords: pompe; disease; autosomal recessive; pompe disease ... See more keywords
Pseudo deficiency of acid α-glucosidase: a challenge in the newborn screening for Pompe diseases
Sign Up to like & getrecommendations! Published in 2017 at "Genetics and Molecular Research"
DOI: 10.4238/gmr16039844
Abstract: When a low activity of acid α-glucosidase (GAA) is found, particularly in newborn screening programs, to differentiate α-glucosidase pseudo deficiency from true Pompe disease is important and urgent, as the result generates parental stress and… read more here.
Keywords: acid glucosidase; pseudo deficiency; newborn screening; pompe ... See more keywords