Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100578
Abstract: Background Mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo A syndrome) is a chronic progressive neurodegenerative storage disorder caused by a deficiency of lysosomal sulfamidase. The clinical hallmarks are sleep disturbances, behavioral abnormalities and loss of cognitive,… read more here.
Keywords: mps iiia; mucopolysaccharidosis type; type iiia;
GP229 The use of the ketogenic diet in a metabolic patient with glycogen storage disease type IIIa
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2019-epa.288
Abstract: Background Glycogen Storage Disease (GSD) Type IIIa is a recessively inherited disorder caused by a deficiency in the debranching enzyme amylo-1,6-glucosidase. This deficiency allows for the accumulation of glycogen in the liver, heart and skeletal… read more here.
Keywords: glycogen storage; treatment; glycogen; type iiia ... See more keywords
How to Treat Peripheral Arteriovenous Malformations
Sign Up to like & getrecommendations! Published in 2020 at "Korean Journal of Radiology"
DOI: 10.3348/kjr.2020.0981
Abstract: Arteriovenous malformations (AVMs) are direct communications between primitive reticular networks of dysplastic vessels that have failed to mature into capillary vessels. Based on angiographic findings, peripheral AVMs can be classified into six types: type I,… read more here.
Keywords: arteriovenous malformations; type iiia; treat peripheral; type iiib ... See more keywords
Electroclinical and Multimodality Neuroimaging Characteristics and Predictors of Post-Surgical Outcome in Focal Cortical Dysplasia Type IIIa
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Bioengineering and Biotechnology"
DOI: 10.3389/fbioe.2021.810897
Abstract: Focal cortical dysplasia (FCD) type IIIa is an easily ignored cause of intractable temporal lobe epilepsy. This study aimed to analyze the clinical, electrophysiological, and imaging characteristics in FCD type IIIa and to search for… read more here.
Keywords: seizure; outcome; cortical dysplasia; type iiia ... See more keywords