Retin Cases Brief Rep 2020 Jan 28
INTERMEDIATE UVEITIS WITH RETINAL DETACHMENT IN A PATIENT WITH POMPE DISEASE.
Thomas AS, Grewal DS, Toth CA
To describe the ocular findings in a patient with glycogen storage disease II (Pompe disease). ...
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Source: PubMed
Cardiol Young 2020 Jan 27
Infantile-onset pompe disease: a tale of two cases.
Tolani D, Bansal N, Sehgal S
Pompe disease is a type-II glycogen storage disease, and clinical manifestations include hypertrophic cardiomyopathy and generalised muscular hypotoni ...
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Source: PubMed
Am. J. Med. Genet. A 2020 Jan 18
Airway abnormalities in very early treated infantile-onset Pompe disease: A large-scale survey by flexible bronchoscopy.
Yang CF, Niu DM, Tai SK, Wang TH, Su HT, Huang LY, Soong WJ
Early enzyme replacement therapy (ERT) improve long-term outcomes in patients with infantile-onset Pompe disease (IOPD). Our cohort of patients with I ...
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Source: PubMed
Orphanet J Rare Dis
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Bevilacqua JA, Guecaimburu Ehuletche MDR, Perna A, Dubrovsky A, Franca MC, Vargas S, Hegde M, Claeys KG, Straub V, Daba N, Faria R, Periquet M, Sparks S, Thibault N, Araujo R
Limb-girdle muscular dystrophy (LGMD) is a group of neuromuscular disorders of heterogeneous genetic etiology with more than 30 directly related genes ...
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Source: PubMed
Biochim Biophys Acta Mol Basis Dis
Glycogen storage in a zebrafish Pompe disease model is reduced by 3-BrPA treatment.
Bragato C, Carra S, Blasevich F, Salerno F, Brix A, Bassi A, Beltrame M, Cotelli F, Maggi L, Mantegazza R, Mora M
Pompe disease (PD) is an autosomal recessive muscular disorder caused by deficiency of the glycogen hydrolytic enzyme acid a-glucosidase (GAA). The en ...
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Source: PubMed
