FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4221094910> ?p ?o ?g. }

• W4221094910 endingPage "21" @default.
• W4221094910 startingPage "4" @default.
• W4221094910 abstract "Gaucher disease (GD) is an autosomal recessive inherited lysosomal storage disease that often presents in early childhood and is associated with damage to multiple organ systems. Many challenges associated with GD diagnosis and management arise from the considerable heterogeneity of disease presentations and natural history. Phenotypic classification has traditionally been based on the absence (in type 1 GD) or presence (in types 2 and 3 GD) of neurological involvement of varying severity. However, patient management and prediction of prognosis may be best served by a dynamic, evolving definition of individual phenotype rather than by a rigid system of classification. Patients may experience considerable delays in diagnosis, which can potentially be reduced by effective screening programs; however, program implementation can involve ethical and practical challenges. Variation in the clinical course of GD and an uncertain prognosis also complicate decisions concerning treatment initiation, with differing stakeholder perspectives around efficacy and acceptable cost/benefit ratio. We review the challenges faced by physicians in the diagnosis and management of GD in pediatric patients. We also consider future directions and goals, including acceleration of accurate diagnosis, improvements in the understanding of disease heterogeneity (natural history, response to treatment, and prognosis), the need for new treatments to address unmet needs for all forms of GD, and refinement of the tools for monitoring disease progression and treatment efficacy, such as specific biomarkers." @default.
• W4221094910 created "2022-04-03" @default.
• W4221094910 creator A5000451058 @default.
• W4221094910 creator A5013293147 @default.
• W4221094910 creator A5016493076 @default.
• W4221094910 creator A5027630774 @default.
• W4221094910 creator A5032217427 @default.
• W4221094910 creator A5034366225 @default.
• W4221094910 creator A5037775852 @default.
• W4221094910 creator A5048478753 @default.
• W4221094910 creator A5052375217 @default.
• W4221094910 creator A5056155905 @default.
• W4221094910 creator A5061182342 @default.
• W4221094910 creator A5067876029 @default.
• W4221094910 creator A5089445814 @default.
• W4221094910 creator A5090710628 @default.
• W4221094910 date "2022-05-01" @default.
• W4221094910 modified "2023-10-18" @default.
• W4221094910 title "The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?" @default.
• W4221094910 cites W1485429489 @default.
• W4221094910 cites W1487712681 @default.
• W4221094910 cites W1593780294 @default.
• W4221094910 cites W1605954517 @default.
• W4221094910 cites W1883942983 @default.
• W4221094910 cites W1918265621 @default.
• W4221094910 cites W1918754252 @default.
• W4221094910 cites W1945664289 @default.
• W4221094910 cites W1965728904 @default.
• W4221094910 cites W1968362921 @default.
• W4221094910 cites W1973611842 @default.
• W4221094910 cites W1976520248 @default.
• W4221094910 cites W1978311157 @default.
• W4221094910 cites W1978441989 @default.
• W4221094910 cites W1985962207 @default.
• W4221094910 cites W1987406270 @default.
• W4221094910 cites W1988396936 @default.
• W4221094910 cites W1989812344 @default.
• W4221094910 cites W1990421239 @default.
• W4221094910 cites W1992301360 @default.
• W4221094910 cites W1992646508 @default.
• W4221094910 cites W1993029911 @default.
• W4221094910 cites W1996107840 @default.
• W4221094910 cites W1997831257 @default.
• W4221094910 cites W1999068632 @default.
• W4221094910 cites W1999882057 @default.
• W4221094910 cites W2003111390 @default.
• W4221094910 cites W2004475456 @default.
• W4221094910 cites W2006312022 @default.
• W4221094910 cites W2008642598 @default.
• W4221094910 cites W2012509196 @default.
• W4221094910 cites W2012836220 @default.
• W4221094910 cites W2014086654 @default.
• W4221094910 cites W2014241746 @default.
• W4221094910 cites W2015902351 @default.
• W4221094910 cites W2019749134 @default.
• W4221094910 cites W2021531902 @default.
• W4221094910 cites W2023811911 @default.
• W4221094910 cites W2028245787 @default.
• W4221094910 cites W2029938281 @default.
• W4221094910 cites W2031608061 @default.
• W4221094910 cites W2033586385 @default.
• W4221094910 cites W2034300416 @default.
• W4221094910 cites W2035280943 @default.
• W4221094910 cites W2035518500 @default.
• W4221094910 cites W2039093171 @default.
• W4221094910 cites W2043382845 @default.
• W4221094910 cites W2043629060 @default.
• W4221094910 cites W2047653786 @default.
• W4221094910 cites W2048635542 @default.
• W4221094910 cites W2052867808 @default.
• W4221094910 cites W2053349273 @default.
• W4221094910 cites W2057028178 @default.
• W4221094910 cites W2066168316 @default.
• W4221094910 cites W2070801058 @default.
• W4221094910 cites W2072714809 @default.
• W4221094910 cites W2078624247 @default.
• W4221094910 cites W2082478914 @default.
• W4221094910 cites W2082577333 @default.
• W4221094910 cites W2082720122 @default.
• W4221094910 cites W2087290508 @default.
• W4221094910 cites W2088089177 @default.
• W4221094910 cites W2094750660 @default.
• W4221094910 cites W2095081855 @default.
• W4221094910 cites W2096739914 @default.
• W4221094910 cites W2100601932 @default.
• W4221094910 cites W2104607370 @default.
• W4221094910 cites W2117631045 @default.
• W4221094910 cites W2124185054 @default.
• W4221094910 cites W2126461939 @default.
• W4221094910 cites W2126913426 @default.
• W4221094910 cites W2126946861 @default.
• W4221094910 cites W2131476886 @default.
• W4221094910 cites W2141981005 @default.
• W4221094910 cites W2148072738 @default.
• W4221094910 cites W2153890841 @default.
• W4221094910 cites W2161333801 @default.
• W4221094910 cites W2168077471 @default.
• W4221094910 cites W2168225099 @default.

• next