Results 81 to 90 of about 4,281 (208)

Glycogenosis: when a metabolic disease explains cases of suspected child abuse and medical malpractice

, 2012
Introduction: The death of a child without previous clinical symptoms or post-mortem macroscopic findings opens up different perspectives, such as child neglect and abuse, medical malpractice or Sudden Infant Death Syndrome.
S. Andreola, A. Battistini, R. Zoia, G. Gentile, L. Marasciuolo   +4 more
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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

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

Interstitial lung disease in infancy and early childhood: Clinical approach

Pediatric Pulmonology, Volume 60, Issue S1, Page S24-S26, March 2025.
Andrew Bush
wiley   +1 more source

A clinical case of glycogen disease type III in a child

Якутский медицинский журнал
Glycogenosis type III (Cori disease) is one of the most common glycogen storage diseases in the world. The disease is associated with a disorder of carbohydrate metabolism: glycogen metabolism, leading to disruption of its synthesis or breakdown and is ...
V. B. Egorova, T. E. Burtseva, Ya. A. Munkhalova, N. N. Innokentyeva, M. V. Khandy, M. A. Sharina   +5 more
doaj   +1 more source

ePosters Virtual

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

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

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.
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