pompe disease - Robuta Search

https://pompediseasenews.com/ Pompe Disease News Home | Pompe Disease News Mar 2, 2026 - Get the latest news on Pompe disease, its causes, symptoms, diagnosis, and treatments. Hear patient and caregiver voices from our growing Pompe community. pompe disease news https://pmc.ncbi.nlm.nih.gov/articles/PMC8659197/ Pharmacological Chaperone Therapy for Pompe Disease - PMC Pompe disease (PD), a lysosomal storage disease, is caused by mutations of the GAA gene, inducing deficiency in the acid alpha-glucosidase (GAA). This... pompe disease pharmacological chaperone therapy pmc https://mediaspace.msu.edu/media/Pompe+Disease/1_7nj4yl97 Pompe Disease - MSU MediaSpace pompe disease msu mediaspace https://pure.psu.edu/en/publications/newborn-screening-for-pompe-disease-pennsylvania-experience/ Newborn Screening for Pompe Disease: Pennsylvania Experience - Penn State newborn screening pompe disease pennsylvania experience state https://scholars.lib.ntu.edu.tw/entities/project/718ab3f7-25ae-4d23-b7da-fde4e1e69fcc Pompe Disease---Disease and Treatment Models pompe disease treatment models https://scholars.lib.ntu.edu.tw/entities/project/d0a4e67b-9536-4f63-a6ce-9dbe8ae9cff6 Pompe Disease: Disease and Treatment Models pompe disease treatment models https://scholars.lib.ntu.edu.tw/entities/publication/0b6fa75e-15fc-466d-b372-5b198e75df57 Neonatal Screening for Pompe Disease: A 2-Tier Screening Test neonatal screening pompe disease tier test https://pullforpompe.org/ Pull For Pompe – Join us to help conquer Pompe Disease join us to help pull for pompe conquer disease https://boris-portal.unibe.ch/entities/publication/1f5515d0-b9a5-4cb1-97fd-8eb0d37027da Huge aneurysm of the ascending aorta in a patient with adult-type Pompe's disease: histological... Adult-type Pompe's disease (glycogen storage disease type II) has rarely been shown to present with dilatative arteriopathy, suggesting potential smooth muscle... https://publikationen.uni-tuebingen.de/xmlui/handle/10900/119255?show=full Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and... due to https://pmc.ncbi.nlm.nih.gov/articles/PMC11699855/ Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative... Background: Late-onset Pompe disease (LOPD) is a rare, autosomal recessive metabolic disorder that is heterogeneous in disease presentation and progression.... https://eprints.ncl.ac.uk/70803 Enzyme replacement therapy in classical infantile Pompe disease: Results of a ten-month follow-up... https://pmc.ncbi.nlm.nih.gov/articles/PMC4241205/ Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A... Objective: To determine the frequency and impact of gastrointestinal symptoms, and bowel and urinary incontinence, as this is currently unknown in adults with... urge incontinence https://iris.cnr.it/handle/20.500.14243/477101 Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological... https://scholars.duke.edu/publication/1435950 Scholars@Duke publication: Obstructive sleep apnea in late-onset Pompe disease treated by enzyme... https://www.gov.uk/government/publications/cipaglucosidase-alfa-with-miglustat-in-the-treatment-of-late-onset-pompe-disease Cipaglucosidase alfa with miglustat in the treatment of late-onset Pompe disease - GOV.UK EAMS scientific opinion issued to Amicus Therapeutics UK Limited for cipaglucosidase alfa with miglustat in the treatment of adult patients with late-onset... https://file.scirp.org/Html/2-1450229_73542.htm Motor Development as a Potential Marker to Monitor Infantile Pompe Disease on Enzyme Replacement... After Enzyme Replacement Therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), survival of Infantile Pompe Disease (IPD) patients through the... https://www.mdpi.com/2409-515X/6/2/32 Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and... Pompe disease (PD) is screened by a two tier newborn screening (NBS) algorithm, the first tier of which is an enzymatic assay performed on newborn dried blood... https://pubmed.ncbi.nlm.nih.gov/39045638/ Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of... Late-onset Pompe disease (LOPD) is a rare genetic disorder caused by the deficiency of acid alpha-glucosidase leading to progressive cellular dysfunction owing... https://edoc.ub.uni-muenchen.de/34924/ Muscle spindle structure in a mouse model for Pompe disease in a mouse model muscle spindle structure