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Pompe disease is a rare autosomal recessive hereditary disease caused by genetic defects of acid maltase. This disease could be… Expand OBJECTIVE
To evaluate whether B-cell depletion before enzyme replacement therapy (ERT) initiation can block acid alpha… Expand This work aimed to assess seminal α‐1,4‐glucosidase activity in infertile oligoasthenozoospermic men associated with and without… Expand Patients with glycogen storage disease type II (GSDII, Pompe disease) suffer from progressive muscle weakness due to acid… Expand Abstract. Friedreich ataxia is an autosomal recessive neurodegenerative disorder associated with a GAA repeat expansion in the… Expand We examined whether N‐hydroxyethyl‐1‐deoxynojirimycin (miglitol), a new human anti‐diabetic drug with effects to inhibit α‐1,6… Expand A genetic locus from Staphylococcus xylosus involved in maltose-maltotriose utilization has been characterized. The chromosomal… Expand The function of accessory sex glands in 29 tobacco smokers, 25 tobacco chewers and 30 non-users of tobacco was investigated by… Expand Abstract A diagnosis of infantile Pompe's disease (glycogenosis type II) was made by muscle biopsy on a 6-month-old infant boy… Expand A DEX gene from Saccharomyces diastaticus (strain BRG536 alpha DEX1) has been cloned in the hybrid vector pJDB207. The gene is… Expand