نتایج جستجو برای: infantile pompe disease
تعداد نتایج: 1498901 فیلتر نتایج به سال:
Ventilatory aspects in adults with Pompe disease have a major impact on clinical course and quality of live. Treatment with non-invasive ventilation is state of the art for these patients. However, it is well known that the onset of ventilatory symptoms does not strictly correlate with the degree of proximal skeletal muscle involvement. Early signs and symptoms indicating ventilatory insuffi ci...
4. Cook AL, Kishnani PS, Carboni MP, Kanter RJ, Chen YT, Ansong AK, et al. Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease. Genet Med. 2006;8:313–7. 5. Ansong AK, Li JS, Nozik-Grayck E, Ing R, Kravitz RM, Idriss SF, et al. Electrocardiographic response to enzyme replacement therapy for Pompe dise...
The introduction of enzyme replacement therapy and the resultant stabilisation or improvement in mobility and respiratory muscle function afforded to patients with late-onset Pompe may lead to an increased number of Pompe patients prepared to accept the challenges of parenthood. In this case report, we describe our anaesthetic management of two patients with Pompe disease for a caesarean section.
Pregnancy in Pompe disease is still a rare event. Only few reports have been published. Physiological changes of pregnancy may be aggravated by Pompe disease or vice versa. Both may pose a risk for the mother and the unborn child. This talk outlines physiological changes of the cardiovascular, respiratory and hormonal system during pregnancy and delineates the impact on a 36-year-old Pompe pati...
s S46 patients will be captured. More investigation into the willingness of these clinics to participate in the CNDR is required. Some evidence exists that incorporation of Pompe disease into the registry might help to facilitate improved relationships between the genetic, metabolic, and specialty neuromuscular clinics across Canada, which may have important impacts beyond the Pompe disease aud...
Pompe disease is a rare autosomal recessive muscle lysosomal glycogenosis, characterised by limb-girdle muscle weakness and frequent respiratory involvement. The French Pompe registry was created in 2004 with the initial aim of studying the natural history of French patients with adult Pompe disease. Since the marketing in 2006 of enzyme replacement therapy (alglucosidase alfa, Myozyme(®)), the...
CONTEXT Bone fragility and low bone mass have been reported in small case series of patients with Pompe disease with severely reduced muscle strength or immobilization. OBJECTIVE Our objective was to determine the prevalence of morphometric vertebral fractures and to evaluate bone mass in adults with late-onset Pompe disease. DESIGN We conducted a multicenter cross-sectional observational s...
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