Results 31 to 40 of about 20,098 (149)

Renal artery fibromuscular dysplasia in Pompe disease: A case report

Molecular Genetics and Metabolism Reports, 2018
Vascular involvement in Late Onset Pompe Disease, glycogen storage disease type II characterized by limb-girdle muscle and diaphragmatic weakness, is well documented.
Evangelia Pappa, Constantinos Papadopoulos, Philippe Grimbert, Pascal Laforêt, Guillaume Bassez   +4 more
doaj   +1 more source

The infantile-onset form of Pompe disease: an autopsy diagnosis

Autopsy and Case Reports, 2015
Pompe disease (PD) is a rare, inherited autosomal recessive metabolic disorder caused by the deficiency of the lysosomal acid alpha-glucosidase (GAA) enzyme described in 1932 by the Dutch pathologist Joannes Cassianus Pompe.
Otávio César Cruz dos Santos
doaj   +1 more source

Glycogen storage disease in a young cat with heart failure

Journal of Veterinary Internal Medicine, 2022
An 8‐month‐old domestic short‐haired female cat presented with acute tachypnea, poor growth, hypothermia, and lethargy. Thoracic radiography showed cardiomegaly with mild pleural effusion, and transthoracic echocardiography identified dilatation of both ...
Shigeki Tanaka, Ryohei Suzuki, Hidekazu Koyama, Noboru Machida, Akira Yabuki, Osamu Yamato   +5 more
doaj   +1 more source

Rare case of type II glycogen storage disease [PDF]

Research Result. MEDICINE AND PHARMACY SERIES, 2015
The article presents information about a rare case of Pompe disease. It is a glycogen storage disease. During the third screening of a pregnant woman, the ultrasonography of the fetus’s heart revealed the myocardial hypertrophy of the left ventricle perceived as posthypoxic. After delivery, the newborn underwent the ultrasound examination and molecular
Nagorniy, V. A., Trunova, R. B., Mukhina, T. S., Khabibullin, R. R., Tverskoi, A. V.   +4 more
openaire   +3 more sources

Functional assessment using short tests in a patient with Pompe disease receiving enzyme replacement therapy: case report

Case Reports, 2019
Introduction: Pompe disease is characterized by the deficiency of the acid alfa glucosidase enzyme, which leads to a glycogen accumu­lation mainly in cardiac and skeletal muscles.
Thomas Torres-Cuenca, Jorge Arturo Díaz-Ruíz, Fernando Ortiz-Corredor   +2 more
doaj   +1 more source

A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds.

PLoS ONE, 2013
Pompe disease is a recessively inherited and often fatal disorder caused by the deficiency of acid α-glucosidase, an enzyme encoded by the GAA gene and needed to break down glycogen in lysosomes.
Eija H Seppälä, Arnold J J Reuser, Hannes Lohi   +2 more
doaj   +1 more source

Late Onset Glycogen Storage Disease Type II: Pitfalls in the Diagnosis

European Neurology, 2011
<i>Background/Aims:</i> Glycogen storage disease type II (GSD-II) is a lysosomal disorder caused by acid α glucosidase (GAA) deficiency. The infantile form is easier to recognize compared with the milder adult form that may manifest as myopathy without specific clinical characteristics.
Papadimas, G.K., Spengos, K., Papadopoulos, C., Manta, P.   +3 more
openaire   +5 more sources

Late-onset Pompe Disease with Elevated Liver Transaminases: A Case Report

Journal of Mazandaran University of Medical Sciences, 2019
Pompe disease or type II glycogen storage disease is a rare autosomal hereditary disease. The prevalence of the disease is about 1 in 40,000 to 1 in 300,000 population. It usually occurs as a result of glycogen accretion following acid maltase deficiency.
Maryam Bagheri, Nasrin Bazgir, Sajjad salari   +2 more
doaj  

Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease Mutação homozigótica intrônica no gene GAA em três irmãos com doença de Pompe de início tardio

Arquivos de Neuro-Psiquiatria, 2010
Pompe's disease (PD) is a metabolic myopathy caused by the accumulation of lysosomal glycogen, secondary to acid α-glucosidase (GAA) enzyme deficiency. Childhood and late-onset forms are described, differing by the age of onset and symptoms. In this
Anderson Kuntz Grzesiuk, Sueli Mieko Oba Shinjo, Roseli da Silva, Marcela Machado, Marcial Francis Galera, Suely Kazue Nagahashi Marie   +5 more
doaj   +1 more source

Pregnancy Outcomes in Late Onset Pompe Disease

Life, 2020
There is limited data on pregnancy outcomes in Pompe Disease (PD) resulting from deficiency of the lysosomal enzyme acid alpha-glucosidase. Late-onset PD is characterized by progressive proximal muscle weakness and decline of respiratory function ...
Ozlem Goker-Alpan, Vellore G. Kasturi, Maninder K. Sohi, Renuka P. Limgala, Stephanie L. Austin, Tabitha Jennelle, Maryam Banikazemi, Priya S. Kishnani   +7 more
doaj   +1 more source