Results 81 to 90 of about 3,882 (211)

Conduction disorders as an early marker of cardiac glycogenosis (PRKAG2 syndrome)

Рациональная фармакотерапия в кардиологии
The article presents a clinical case of familial PRKAG2-cardiomyopathy, illustrating diagnostic challenges and the importance of molecular genetic verification.
O. V. Kulikova, R. P. Myasnikov, A. V. Kiseleva, E. V. Gagarina, D. A. Nefedova, A. A. Bukaeva, A. A. Zharikova, E. A. Mershina, A. N. Meshkov, O. M. Drapkina   +9 more
doaj   +1 more source

Pulmonary interstitial glycogenosis within a discrete pulmonary lesion mimicking congenital pulmonary airway malformation

Journal of Pediatric Surgery Case Reports, 2015
Interstitial lung diseases (ILD) are a heterogeneous group of pulmonary disorders that are relatively rare in the pediatric population. These diseases are characterized by impaired gas exchange and typically manifest with diffuse infiltrates on ...
Robert L. Ricca, Adam B. Goldin, Gail H. Deutsch, Kimberly J. Riehle   +3 more
doaj   +1 more source

PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis

Annals of Pediatric Cardiology, 2015
Mutations in PRKAG2 gene that regulates the γ2 subunit of the adenosine monophosphate (AMP) dependent protein kinase have been associated with the development of atrioventricular (AV) accessory pathways, cardiac hypertrophy, and conduction system ...
Varun Aggarwal, Nancy Dobrolet, Steven Fishberger, Jenny Zablah, Parul Jayakar, Zineb Ammous   +5 more
doaj   +1 more source

Biochemical Genetics of Glycogenosis Type II in Brahman Cattle

, 1993
Glycogenosis type II is an inherited lysosomal storage disorder caused by acid α-glucosidase deficiency. The disorder is inbred in Brahman cattle, and the incidence of carriers in Australian herds averages 15%.
Drinkwater, R.D., Hermans, M.M.P., Hetzel, D.J.S., Harrison, B., Kroos, M.A., Wisselaar, H.A., Aspden, W., Oostra, B.A., Visser, W.J., Reuser, A.J.J.   +9 more
core   +1 more source

ePosters Virtual

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Glicogenose hereditária em bovinos Brahman no Brasil Inherited glycogenosis in Brahman cattle in Brazil

Pesquisa Veterinária Brasileira, 2005
Relata-se uma enfermidade hereditária em bovinos caracterizada por acúmulo lisossomal de glicogênio em diversos órgãos. A doença foi diagnosticada em um rebanho da raça Brahman, no município de Porto Lucena, Rio Grande do Sul, Brasil. Os animais afetados,
P Zlotowski, L Nakazato, V Dutra, S.S Barros, E.J Gimeno, M Göcks, E.M Colodel, D Driemeier   +7 more
doaj   +1 more source

Hemangioma of the semimembranosus muscle in a patient with late-onset glycogenosis II

, 2013
This a case report of a patient affected by glycogenosis who was found to suffer a Hemangioma of the semimembranosus ...
Valentina Vielmi, Massimiliano Filosto, Alice Todeschini, PADOVANI, Alessandro, Claudio Seddio, Maria Sofia Cotelli   +5 more
core   +1 more source

LIVER TRANSPLANTATION IN CHILDREN WITH GLYCOGEN STORAGE DISEASES: RISK ASSESSMENT AND NECESSITY OF THIS PROCEDURE

Вестник трансплантологии и искусственных органов, 2013
Glycogen storage diseases I, III and IV types are congenital disorders, which are commonly associated with severe liver diseases. Liver transplantation has been proposed as a treatment of choise for these disorders.
S. V. Gautier, O. M. Tsirulnikova, D. S. Mnatsakanyan, I. M. Ilyinsky, N. P. Mozheiko   +4 more
doaj   +1 more source

Multidisciplinary neurological and pneumological management of patients with glycogenosis type II

, 2010
Glycogenosis type II is a progressive, multisystemic and often disabling disorder that affects patients' quality of life and survival. Traditionally, three clinical forms of the disease have been classified based on age of symptoms onset: classic ...
Vitacca M., Filosto M.
core  

Isolated glycogen storage disease of the heart

Российский кардиологический журнал, 2019
Isolated glycogen storage disease of the heart (PRKAG2 syndrome) is a form of glycogenosis, which is characterized by left ventricular hypertrophy, similar to the phenotype of hypertrophic cardiomyopathy, associated with pre-excitation of the ventricles ...
S. M. Komissarova, N. M. Rineiskaya, N. N. Chakova, S. S. Niyazova, L. I. Plashchinskaya   +4 more
doaj   +1 more source