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glycogen storage disease/peavalu

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ArtiklidKliinilistes uuringutesPatendid
4 tulemused

Sleep breathing disorders and nocturnal respiratory pattern in patients with glycogenosis type II.

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Patients affected by glycogenosis type II frequently present sleep disordered breathing. The presence of symptoms suggestive of sleep breathing disorders was investigated, by a questionnaire, in 10 patients, affected by adult or juvenile forms of glycogenosis type II. Diurnal respiratory function,

A complex craniovertebral junction malformation in a patient with late onset glycogenosis 2.

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Glycogenosis II (GSDII) is an autosomal recessive lysosomal storage disorder resulting from deficiency of acid alpha-glucosidase and subsequent lysosomal accumulation of glycogen in skeletal, cardiac and smooth muscles. The late-onset form is characterized by wide variability of the phenotypical

[Mechanical ventilation in neuromuscular diseases: do not start too early, but certainly not too late].

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Three patients had chronic respiratory disorders: a 42-year-old man with glycogenosis type II was tired, had headaches, poor pulmonary function values and, according to the arterial blood gas values, hypercapnia; a man aged 24 with Duchenne's muscular dystrophy had variable moderate dyspnoea with
OBJECTIVE Recombinant human granulocyte colony-stimulating factor (rhG-CSF) promoted healing of Crohn's disease (CD)-like intestinal lesions in chronic granulomatous disease and glycogen storage disease Ib, both characterized by defective neutrophil functions. We performed a prospective, open-label
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