Now showing items 11-20 of 68762
Pompe disease: Clinical perspectives
(Dove Medical, 2017)
Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. It has also been called acid maltase deficiency and glycogen storage ...
Autoimmune pulmonary proteinosis in a Chilean teenager, a rare aetiology of interstitial lung disease
Interstitial lung disease (ILD) is rare and encompasses a heterogeneous group of diseases, and is even rarer in children than in adults. ILDs compromise more than 100 different entities, including pulmonary alveolar ...
Chronic motor neuron disease possibly related to intoxication with organochlorine insecticides
(Munksgaard Int Publ Ltd, 1993-01-01)
We report on two patients with a history of chronic exposure to organochlorine insecticides who developed clinical and electromyographic signs and symptoms of chronic motor neuron disease. Measurements of aldrin, lindane ...
Infertility of autoimmune origin in a stallion.
Transición epidemiológica: la otra cara de la moneda
(Sociedad Médica de Santiago, 2006)
Chagas Disease and the London Declaration on Neglected Tropical Diseases
(Public Library of Science, 2014-10)