FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4318014909> ?p ?o ?g. }

• W4318014909 endingPage "107525" @default.
• W4318014909 startingPage "107525" @default.
• W4318014909 abstract "Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired and leads to accumulation of poorly branched glycogen known as polyglucosan. GSD IV is characterized by a remarkable degree of phenotypic heterogeneity with presentations in utero, during infancy, early childhood, adolescence, or middle to late adulthood. The clinical continuum encompasses hepatic, cardiac, muscular, and neurologic manifestations that range in severity. The adult-onset form of GSD IV, referred to as adult polyglucosan body disease (APBD), is a neurodegenerative disease characterized by neurogenic bladder, spastic paraparesis, and peripheral neuropathy. There are currently no consensus guidelines for the diagnosis and management of these patients, resulting in high rates of misdiagnosis, delayed diagnosis, and lack of standardized clinical care. To address this, a group of experts from the United States developed a set of recommendations for the diagnosis and management of all clinical phenotypes of GSD IV, including APBD, to support clinicians and caregivers who provide long-term care for individuals with GSD IV. The educational resource includes practical steps to confirm a GSD IV diagnosis and best practices for medical management, including (a) imaging of the liver, heart, skeletal muscle, brain, and spine, (b) functional and neuromusculoskeletal assessments, (c) laboratory investigations, (d) liver and heart transplantation, and (e) long-term follow-up care. Remaining knowledge gaps are detailed to emphasize areas for improvement and future research." @default.
• W4318014909 created "2023-01-26" @default.
• W4318014909 creator A5001000588 @default.
• W4318014909 creator A5004357254 @default.
• W4318014909 creator A5024023103 @default.
• W4318014909 creator A5035021544 @default.
• W4318014909 creator A5037076379 @default.
• W4318014909 creator A5037775852 @default.
• W4318014909 creator A5042248700 @default.
• W4318014909 creator A5043343959 @default.
• W4318014909 creator A5061426453 @default.
• W4318014909 creator A5061713867 @default.
• W4318014909 creator A5062304510 @default.
• W4318014909 creator A5063569884 @default.
• W4318014909 creator A5065093217 @default.
• W4318014909 creator A5069549707 @default.
• W4318014909 creator A5069794092 @default.
• W4318014909 creator A5074550034 @default.
• W4318014909 creator A5075087907 @default.
• W4318014909 creator A5075718552 @default.
• W4318014909 creator A5090710628 @default.
• W4318014909 date "2023-03-01" @default.
• W4318014909 modified "2023-10-17" @default.
• W4318014909 title "Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource" @default.
• W4318014909 cites W1495776408 @default.
• W4318014909 cites W1516469677 @default.
• W4318014909 cites W1586896899 @default.
• W4318014909 cites W1831622715 @default.
• W4318014909 cites W1842032636 @default.
• W4318014909 cites W1952665708 @default.
• W4318014909 cites W1965435735 @default.
• W4318014909 cites W1965936554 @default.
• W4318014909 cites W1968066183 @default.
• W4318014909 cites W1972328777 @default.
• W4318014909 cites W1973471908 @default.
• W4318014909 cites W1974832184 @default.
• W4318014909 cites W1975155027 @default.
• W4318014909 cites W1975195571 @default.
• W4318014909 cites W1977732637 @default.
• W4318014909 cites W1978870504 @default.
• W4318014909 cites W1981172475 @default.
• W4318014909 cites W1982750012 @default.
• W4318014909 cites W1984214030 @default.
• W4318014909 cites W1985696268 @default.
• W4318014909 cites W1987065484 @default.
• W4318014909 cites W1989873562 @default.
• W4318014909 cites W1990728503 @default.
• W4318014909 cites W1993378347 @default.
• W4318014909 cites W1994664800 @default.
• W4318014909 cites W1997678162 @default.
• W4318014909 cites W2001267891 @default.
• W4318014909 cites W2004378979 @default.
• W4318014909 cites W2007800977 @default.
• W4318014909 cites W2009649695 @default.
• W4318014909 cites W2010786649 @default.
• W4318014909 cites W2015551636 @default.
• W4318014909 cites W2016045223 @default.
• W4318014909 cites W2018964373 @default.
• W4318014909 cites W2019805171 @default.
• W4318014909 cites W2024093754 @default.
• W4318014909 cites W2024695329 @default.
• W4318014909 cites W2025779108 @default.
• W4318014909 cites W2026515460 @default.
• W4318014909 cites W2027159701 @default.
• W4318014909 cites W2030956834 @default.
• W4318014909 cites W2031910811 @default.
• W4318014909 cites W2032048300 @default.
• W4318014909 cites W2033972778 @default.
• W4318014909 cites W2035756869 @default.
• W4318014909 cites W2035995009 @default.
• W4318014909 cites W2036693767 @default.
• W4318014909 cites W2039461643 @default.
• W4318014909 cites W2039557667 @default.
• W4318014909 cites W2040117730 @default.
• W4318014909 cites W2041669304 @default.
• W4318014909 cites W2041774328 @default.
• W4318014909 cites W2045821315 @default.
• W4318014909 cites W2046970946 @default.
• W4318014909 cites W2047662764 @default.
• W4318014909 cites W2047950457 @default.
• W4318014909 cites W2047985200 @default.
• W4318014909 cites W2053756947 @default.
• W4318014909 cites W2059371065 @default.
• W4318014909 cites W2059540151 @default.
• W4318014909 cites W2064957169 @default.
• W4318014909 cites W2069280572 @default.
• W4318014909 cites W2071456348 @default.
• W4318014909 cites W2071513395 @default.
• W4318014909 cites W2073849812 @default.
• W4318014909 cites W2074656459 @default.
• W4318014909 cites W2075918070 @default.
• W4318014909 cites W2077041592 @default.
• W4318014909 cites W2077572015 @default.
• W4318014909 cites W2081081067 @default.
• W4318014909 cites W2082545400 @default.
• W4318014909 cites W2084007756 @default.
• W4318014909 cites W2084677275 @default.
• W4318014909 cites W2086121558 @default.

• next