Headache: A Presentation of Pompe Disease; A Case Report
Pompe disease, also termed glycogen storage disease type II or acid maltase deficiency, caused by deficient activity of acid alpha-glucosidase (GAA), the glycogen degrading lysosomal enzyme.
Fariborz Rezaeitalab +3 more
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High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy [PDF]
Esther Poelman +7 more
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Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease [PDF]
Kristl G. Claeys +9 more
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FIVE-YEARS FOLLOW-UP OF THE RESPIRATORY AND MOTOR INVOLVEMENTS IN PATIENTS WITH LATE ONSET POMPE DISEASE (LOPD) ON IRREGULAR ENZYME REPLACEMENT THERAPY (ERT) [PDF]
Nuno Sousa
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Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China [PDF]
Huihui Zhao +8 more
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Role of Respiratory Rehabilitation in Pompe Disease: A Case Report
Cecilia Garrino Fernández +1 more
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The Virgin and Child with the Infant St. John the Baptist by Sandro Botticelli (1445-1510): does the child have Pompe Disease? [PDF]
Deivis de Campos
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PO-0043 Classic Infantile-onset Pompe Disease: A Study Of 8 Cases [PDF]
Hajer Aloulou +7 more
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Teaching Video Neuro Images : Bent spine syndrome as an early presentation of late-onset Pompe disease [PDF]
Francesca Magrinelli +2 more
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