Vogt-Koyanagi-Harada disease – A diagnostic pitfall for neurologists
Sign Up to like & getrecommendations! Published in 2022 at "eNeurologicalSci"
DOI: 10.1016/j.ensci.2021.100390
Abstract: Highlights • VKH is an idiopathic autoimmune disease presenting with uveomeningeal syndrome.• Granulomatous uveitis and serious retinal detachments are the most common findings of VKH.• VKH can masquerade as IIH by presenting with severe headache… read more here.
Keywords: disease diagnostic; diagnostic pitfall; koyanagi harada; vogt koyanagi ... See more keywords
von Willebrand Disease: Diagnostic Strategies and Treatment Options.
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric clinics of North America"
DOI: 10.1016/j.pcl.2018.02.004
Abstract: von Willebrand disease (VWD) is one of the most common inherited bleeding disorders. Since its first description in 1926, the diagnosis and management of VWD has significantly improved due to increasing scientific knowledge of the… read more here.
Keywords: disease diagnostic; treatment options; diagnostic strategies; von willebrand ... See more keywords
Type 3 Gaucher disease, diagnostic in adulthood
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2017.07.002
Abstract: El-Beshlawy reported in the issue of the Journal the largest experience to date of patients with type 3 Gaucher disease (GD3) treated by imiglucerase and enrolled in an International Registry [1]. They confirmed both a… read more here.
Keywords: diagnostic adulthood; gaucher disease; disease diagnostic; type gaucher ... See more keywords
The Progression of Celiac Disease, Diagnostic Modalities, and Treatment Options.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of investigative medicine high impact case reports"
DOI: 10.1177/23247096211053702
Abstract: Celiac disease (CD) is an autoimmune disorder that affects genetically predisposed individuals who are sensitive to gluten and related proteins. It affects children and adults with increasing prevalence in the older age groups. Both adaptive… read more here.
Keywords: progression celiac; disease diagnostic; treatment; disease ... See more keywords
Metabolic Fingerprinting of Fabry Disease: Diagnostic and Prognostic Aspects
Sign Up to like & getrecommendations! Published in 2022 at "Metabolites"
DOI: 10.3390/metabo12080703
Abstract: Fabry disease (FD) is an X-linked lysosomal disease due to a deficiency in the activity of the lysosomal-galactosidase A (GalA), a key enzyme in the glycosphingolipid degradation pathway. FD is a complex disease with a… read more here.
Keywords: fingerprinting fabry; disease; metabolic fingerprinting; disease diagnostic ... See more keywords