Global ETD Search

1	Analysis of Parental Perception of Swallowing and Voice in Infants and Children with Pompe Disease Cecchi, Alana 04 August 2011 (has links) No description available. Surgery Pompe disease Glycogen storage disease type II Acid maltase deficiency Oropharyngeal dysfunction Voice disorders
2	Successful Treatment of Respiratory Insufficiency Due to Adult Acid Maltase Deficiency With Noninvasive Positive Pressure Ventilation Puruckherr, Michael, Pooyan, Payam, Girish, Mirle R., Byrd, Ryland P., Roy, Thomas M. 01 July 2004 (has links) Acid maltase deficiency (AMD) is a rare autosomal recessive genetic disorder that results in an accumulation of glycogen in the lysosomal storage vacuoles. It is classified as a glycogen storage disease (type II) and is also known as Pompe's disease. The prognosis of the patient with AMD is poor and the main cause of death is respiratory failure. We report a female patient whose respiratory insufficiency was documented to occur most severely during rapid eye movement sleep and who benefited clinically from the institution of nocturnal noninvasive bilevel positive airway pressure. aα-G Acid α-1 4 glucosidase ABG arterial blood gas analysis AMD acid maltase deficiency BiPAP bilevel positive airway pressure CPK serum creatine kinase EMG electromyography NIPPV PFT pulmonary function tests PSG polysomnography REM rapid eye movement Internal Medicine