Matches in SemOpenAlex for { <https://semopenalex.org/work/W3164870346> ?p ?o ?g. }
- W3164870346 endingPage "5913" @default.
- W3164870346 startingPage "5913" @default.
- W3164870346 abstract "Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder leading to paralysis, muscle atrophy, and death. Significant advances in antisense oligonucleotide treatment and gene therapy have made it possible for SMA patients to benefit from improvements in many aspects of the once devastating natural history of the disease. How the depletion of survival motor neuron (SMN) protein, the product of the gene implicated in the disease, leads to the consequent pathogenic changes remains unresolved. Over the past few years, evidence toward a potential contribution of gastrointestinal, metabolic, and endocrine defects to disease phenotype has surfaced. These findings ranged from disrupted body composition, gastrointestinal tract, fatty acid, glucose, amino acid, and hormonal regulation. Together, these changes could have a meaningful clinical impact on disease traits. However, it is currently unclear whether these findings are secondary to widespread denervation or unique to the SMA phenotype. This review provides an in-depth account of metabolism-related research available to date, with a discussion of unique features compared to other motor neuron and related disorders." @default.
- W3164870346 created "2021-06-07" @default.
- W3164870346 creator A5003092015 @default.
- W3164870346 creator A5010621035 @default.
- W3164870346 creator A5074188397 @default.
- W3164870346 date "2021-05-31" @default.
- W3164870346 modified "2023-09-23" @default.
- W3164870346 title "Metabolic Dysfunction in Spinal Muscular Atrophy" @default.
- W3164870346 cites W1458217 @default.
- W3164870346 cites W1486198982 @default.
- W3164870346 cites W1492572323 @default.
- W3164870346 cites W1554872850 @default.
- W3164870346 cites W1573089314 @default.
- W3164870346 cites W1585186077 @default.
- W3164870346 cites W1594872287 @default.
- W3164870346 cites W180898647 @default.
- W3164870346 cites W182594245 @default.
- W3164870346 cites W1871235281 @default.
- W3164870346 cites W1875201314 @default.
- W3164870346 cites W1888529115 @default.
- W3164870346 cites W1904651018 @default.
- W3164870346 cites W1944638604 @default.
- W3164870346 cites W1963580438 @default.
- W3164870346 cites W1963913342 @default.
- W3164870346 cites W1964703381 @default.
- W3164870346 cites W1966568274 @default.
- W3164870346 cites W1967243333 @default.
- W3164870346 cites W1969487872 @default.
- W3164870346 cites W1969540504 @default.
- W3164870346 cites W1971077211 @default.
- W3164870346 cites W1971557811 @default.
- W3164870346 cites W1973293074 @default.
- W3164870346 cites W1973368869 @default.
- W3164870346 cites W1974864234 @default.
- W3164870346 cites W1975243277 @default.
- W3164870346 cites W1976200139 @default.
- W3164870346 cites W1980477780 @default.
- W3164870346 cites W1981982297 @default.
- W3164870346 cites W1988447677 @default.
- W3164870346 cites W1990393476 @default.
- W3164870346 cites W1992048100 @default.
- W3164870346 cites W1992108578 @default.
- W3164870346 cites W1995715478 @default.
- W3164870346 cites W1997711942 @default.
- W3164870346 cites W1999550376 @default.
- W3164870346 cites W1999683717 @default.
- W3164870346 cites W2000725203 @default.
- W3164870346 cites W2002631725 @default.
- W3164870346 cites W2004800351 @default.
- W3164870346 cites W2007344521 @default.
- W3164870346 cites W2010911753 @default.
- W3164870346 cites W2013142508 @default.
- W3164870346 cites W2015026135 @default.
- W3164870346 cites W2017265308 @default.
- W3164870346 cites W2019638822 @default.
- W3164870346 cites W2019758516 @default.
- W3164870346 cites W2020424086 @default.
- W3164870346 cites W2020876447 @default.
- W3164870346 cites W2020897081 @default.
- W3164870346 cites W2020999287 @default.
- W3164870346 cites W2021444514 @default.
- W3164870346 cites W2022758258 @default.
- W3164870346 cites W2024108088 @default.
- W3164870346 cites W2025049761 @default.
- W3164870346 cites W2027027613 @default.
- W3164870346 cites W2027999800 @default.
- W3164870346 cites W2028071047 @default.
- W3164870346 cites W2029591368 @default.
- W3164870346 cites W2029906820 @default.
- W3164870346 cites W2032708696 @default.
- W3164870346 cites W2032714982 @default.
- W3164870346 cites W2033009944 @default.
- W3164870346 cites W2033608839 @default.
- W3164870346 cites W2033889956 @default.
- W3164870346 cites W2034784666 @default.
- W3164870346 cites W2041381596 @default.
- W3164870346 cites W2047345323 @default.
- W3164870346 cites W2047492318 @default.
- W3164870346 cites W2050504901 @default.
- W3164870346 cites W2051342855 @default.
- W3164870346 cites W2053122118 @default.
- W3164870346 cites W2054380003 @default.
- W3164870346 cites W2056337859 @default.
- W3164870346 cites W2058662184 @default.
- W3164870346 cites W2061419143 @default.
- W3164870346 cites W2061561821 @default.
- W3164870346 cites W2062982750 @default.
- W3164870346 cites W2063672448 @default.
- W3164870346 cites W2066474144 @default.
- W3164870346 cites W2066719933 @default.
- W3164870346 cites W2068076855 @default.
- W3164870346 cites W2069443367 @default.
- W3164870346 cites W2069781617 @default.
- W3164870346 cites W2070385315 @default.
- W3164870346 cites W2070461993 @default.
- W3164870346 cites W2071346782 @default.
- W3164870346 cites W2071470362 @default.
- W3164870346 cites W2071591138 @default.