Results 151 to 160 of about 4,895 (172)

Obstructive Sleep Apnea Syndrome in Acid Maltase Deficiency

Chest, 1994
A patient with adult acid maltase deficiency (AMD) developed severe obstructive sleep apnea (OSA) and respiratory insufficiency. Weaning failure was followed by diffuse pneumonia and death. At autopsy, profound muscle replacement by fibrofatty tissue was noted in the tongue and diaphragm, while the accessory and nonrespiratory muscles were variably ...
M L, Margolis, P, Howlett, R, Goldberg, A, Eftychiadis, S, Levine   +4 more
openaire   +2 more sources

Juvenile acid maltase deficiency presenting as paravertebral pseudotumour

European Journal of Pediatrics, 1988
In addition to the infantile lethal form of glycogen storage disease with cardiomyopathy (GSD Type IIa, Pompe disease) 1,4 glucosidase or acid maltase deficiency has been reported in a few children and adults (GSD Type IIb or IIc) erroneously thought to have muscular dystrophies.
T C, Iancu, A, Lerner, H, Shiloh, N, Bashan, S, Moses   +4 more
openaire   +2 more sources

Adult acid maltase deficiency

2004
Abstract Type II glycogenosis (glycogen storage disease[GSD-II]) is an autosomal recessive lysosomal storage disorder caused by partial or complete deficiency of acid-glucosidase activity (GAA), or acid maltase. This enzyme defect results in the accumulation of lysosomal glycogen in many tissues, with cardiac and skeletal muscle affected
openaire   +1 more source

The spectrum and diagnosis of acid maltase deficiency

Neurology, 1973
A G, Engel, M R, Gomez, M E, Seybold, E H, Lambert   +3 more
openaire   +2 more sources

[Respiratory failure due to acid maltase deficiency].

Revue des maladies respiratoires, 2012
Acid maltase deficiency (AMD) is a metabolic myopathy which may be revealed at adulthood by respiratory muscle weakness, resulting in reduced vital capacity, alveolar hypoventilation and sleep apnoea. We observed two men, 39 and 42 years old respectively, suffering from asthenia and exertional dyspnoea for several months.
T, Perez, E, Marié, A, Lacour, C A, Maurage, B, Wallaert   +4 more
openaire   +1 more source

Adult-Onset Acid Maltase Deficiency

Chest, 1977
Noah I. Lightman, Robert T. Schooley
openaire   +1 more source

Adult onset acid maltase deficiency

Journal of the Neurological Sciences, 1985
M. Swash, M.S. Schwartz, M.C.P. Apps
openaire   +1 more source

Late-onset acid maltase deficiency

Journal of the Neurological Sciences, 1981
Sara Shanske, Salvatore Dimauro
openaire   +1 more source

A Patient with Dyspnea and Acid Maltase Deficiency

Respiratory Care, 1999
Salim Kathawalla, Muzaffar Ahmad
openaire   +1 more source

[Acid maltase deficiency].

Ryoikibetsu shokogun shirizu, 2002
T, Miyamoto, S, Tsujino
openaire   +1 more source