Results 61 to 70 of about 8,964,539 (118)

Targeted brain metabolomics in a 7 month-old GBE1-deficient adult polyglucosan body disease mouse model

Targeted metabolomic profiles (protein-normalized relative abundances of brain metabolites) were obtained in an adult polyglucosan body disease mouse model and littermate controls.
Nitschke, F (via Mendeley Data)
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P158: The diagnostic odyssey: A review of two patients with adult polyglucosan body disease

Genetics in Medicine Open, 2023
Anusha Ebrahim, Daniel Benavides, Camilo Toro, Colleen Wahl, William Gahl   +4 more
doaj   +1 more source

Periodontal disease and pre-eclampsia: a systematic review [PDF]

, 2010
Systematic review on periodontal disease as a risk factor for pre ...
Kunnen, A., Frank Abbas, Pampus, M.G. van,, Jan G. Aarnoudse, van Doormaal, J.J., van Pampus, Maria, Abbas, F., Aarnoudse, J.G., van Pampus, M.G., van Doormaal, Jasper J., Jasper J. Van Doormaal, Marijke M. Faas, Kunnen, Alina, Alina Kunnen, Kunnen, A.,, Maria G. Van Pampus, Faas, M.M.,, Abbas, F.,, Aarnoudse, J.G.,, Abbas, Frank, Doormaal, J.J. van.,, Faas, M.M., Faas, Marijke M., Aarnoudse, Jan G.   +23 more
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The Structural Analysis of Soluble Muscle Glycogen and Insoluble Polyglucosan

, 2018
The improper function of either glycogen synthase (GS) or glycogen branching enzyme (GBE) is directly correlated to the several glycogen storage disorders such as Lafora disease (LD, OMIM #254780) and Adult polyglucosan body disorder (APBD, OMIM #263570).
Pan, Xiao Shan
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O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV*

Genetics in Medicine Open, 2023
Rebecca Koch, Claudia Soler-Alfonso, Bridget Kiely, Akihiro Asai, Ariana Smith, Deeksha Bali, Peter Kang, Andrew Landstrom, H. Orhan Akman, T. Andrew Burrow, Jennifer Orthmann-Murphy, Deberah Goldman, Surekha Pendyal, Areeg El-Gharbawy, Stephanie Austin, Laura Case, Raphael Schiffmann, Michio Hirano, Priya Kishnani   +18 more
doaj   +1 more source

Mapping of Purkinje Neuron Loss and Polyglucosan Body Accumulation in Hereditary Cerebellar Degeneration in Scottish Terriers

, 2011
A hereditary cerebellar degenerative disorder has emerged in Scottish Terriers. The aims of this study were to describe and quantify polyglucosan body accumulation and quantify Purkinje neurons in the cerebellum of affected and control dogs.
A. de Lahunta, K. E. Linder, N. J. Olby, G. Urkasemsin, J. S. Bell   +4 more
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Early-life risk factors for adult chronic disease: follow-up of a cohort born during 1964-1978 in an urban slum of Lahore, Pakistan. [PDF]

, 2008
Evidence suggests that risk of chronic diseases may be programmed during the foetal and early life of the infant. With high rates of low birthweight coupled with a rapid nutritional transition, low-income countries are facing an epidemic of chronic ...
Moore, Sophie E, Ashraf, Rifat N, Hanson, Lars A, Jalil, Fehmida, Prentice, Andrew M, Butt, Nadeem S, Zaman, Shakila   +6 more
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Identification of Therapeutic Targets in a Glycogen Storage Disease Type IV Mouse Model

, 2018
Adult polyglucosan body disease (APBD) is a neurological, adult-onset variant of glycogen storage disease type IV caused by mutations in the glycogen branching enzyme gene.
Chown, Erin
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Socioeconomic position in childhood and adult cardiovascular risk factors, vascular structure, and function: cardiovascular risk in Young Finns study [PDF]

, 2005
Objective: To examine the association of childhood socioeconomic position (SEP) with adult cardiovascular risk factors, vascular structure, and vascular function in a contemporary population of young adults. Design: Population based prospective cohort
Keltikangas-Järvinen, L., Kivimäki, M, Ferrie, J E, Keltikangas-Järvinen, L, Raitakari, O.T., Raitakari, O T, Elovainio, M., Viikari, J.S.A., Vahtera, J, Elovainio, M, Juonala, M., Viikari, J S A, Vahtera, J., Leino, M, Pulkki-Råback, L., Smith, Davey G, Davey Smith, G., Ferrie, J.E., Juonala, M, Leino, M., Pulkki-Råback, L, Kivimäki, M.   +21 more
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Update on polyglucosan storage diseases

, 2019
An abnormal structural form of glycogen (with less branching points or amylopectin-like polysaccharide) called polyglucosan (PG) may accumulate in various tissues such as striated and smooth muscles, brain, nerve, liver and skin, and cause a group of ...
Cenacchi G., Angelini C., Fanin M., Costa R., Marozzo R., Papa V., Pegoraro V.   +6 more
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