FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3021566002> ?p ?o ?g. }

• W3021566002 endingPage "593" @default.
• W3021566002 startingPage "577" @default.
• W3021566002 abstract "Abstract Adrenoleukodystrophy (ALD) is a rare X-linked disorder of peroxisomal oxidation due to mutations in ABCD1. It is a progressive condition with a variable clinical spectrum that includes primary adrenal insufficiency, myelopathy, and cerebral ALD. Adrenal insufficiency affects over 80% of ALD patients. Cerebral ALD affects one-third of boys under the age of 12 and progresses to total disability and death without treatment. Hematopoietic stem cell transplantation (HSCT) remains the only disease-modifying therapy if completed in the early stages of cerebral ALD, but it does not affect the course of adrenal insufficiency. It has significant associated morbidity and mortality. A recent gene therapy clinical trial for ALD reported short-term MRI and neurological outcomes comparable to historical patients treated with HSCT without the associated adverse side effects. In addition, over a dozen states have started newborn screening (NBS) for ALD, with the number of states expecting to double in 2020. Genetic testing of NBS-positive neonates has identified novel variants of unknown significance, providing further opportunity for genetic characterization but also uncertainty in the monitoring and therapy of subclinical and/or mild adrenal insufficiency or cerebral involvement. As more individuals with ALD are identified at birth, it remains uncertain if availability of matched donors, transplant (and, potentially, gene therapy) centers, and specialists may affect the timely treatment of these individuals. As these promising gene therapy trials and NBS transform the clinical management and outcomes of ALD, there will be an increasing need for the endocrine management of presymptomatic and subclinical adrenal insufficiency. (Endocrine Reviews 41: 1 – 17, 2020)" @default.
• W3021566002 created "2020-05-13" @default.
• W3021566002 creator A5021543363 @default.
• W3021566002 creator A5036919823 @default.
• W3021566002 creator A5056346259 @default.
• W3021566002 creator A5069809093 @default.
• W3021566002 creator A5078650087 @default.
• W3021566002 creator A5090892417 @default.
• W3021566002 date "2020-05-04" @default.
• W3021566002 modified "2023-10-13" @default.
• W3021566002 title "The Changing Face of Adrenoleukodystrophy" @default.
• W3021566002 cites W1964076730 @default.
• W3021566002 cites W1967220181 @default.
• W3021566002 cites W1973343526 @default.
• W3021566002 cites W1974733334 @default.
• W3021566002 cites W1975965968 @default.
• W3021566002 cites W1980888760 @default.
• W3021566002 cites W1985172112 @default.
• W3021566002 cites W1994377277 @default.
• W3021566002 cites W1996053568 @default.
• W3021566002 cites W1999829596 @default.
• W3021566002 cites W2019633271 @default.
• W3021566002 cites W2026764365 @default.
• W3021566002 cites W2035587976 @default.
• W3021566002 cites W2037167329 @default.
• W3021566002 cites W2040036069 @default.
• W3021566002 cites W2040981313 @default.
• W3021566002 cites W2042672259 @default.
• W3021566002 cites W2051841728 @default.
• W3021566002 cites W2059381410 @default.
• W3021566002 cites W2071713047 @default.
• W3021566002 cites W2076153637 @default.
• W3021566002 cites W2082110047 @default.
• W3021566002 cites W2085925322 @default.
• W3021566002 cites W2089319449 @default.
• W3021566002 cites W2105468919 @default.
• W3021566002 cites W2107786477 @default.
• W3021566002 cites W2109846359 @default.
• W3021566002 cites W2110525047 @default.
• W3021566002 cites W2112446544 @default.
• W3021566002 cites W2112746302 @default.
• W3021566002 cites W2115298771 @default.
• W3021566002 cites W2115478920 @default.
• W3021566002 cites W2116026368 @default.
• W3021566002 cites W2116073351 @default.
• W3021566002 cites W2129583958 @default.
• W3021566002 cites W2130815938 @default.
• W3021566002 cites W2134676206 @default.
• W3021566002 cites W2141570423 @default.
• W3021566002 cites W2143824765 @default.
• W3021566002 cites W2147261346 @default.
• W3021566002 cites W2150643970 @default.
• W3021566002 cites W2151567647 @default.
• W3021566002 cites W2154923434 @default.
• W3021566002 cites W2156185712 @default.
• W3021566002 cites W2165825213 @default.
• W3021566002 cites W2166822513 @default.
• W3021566002 cites W2168472266 @default.
• W3021566002 cites W2170284722 @default.
• W3021566002 cites W2170533808 @default.
• W3021566002 cites W2266617406 @default.
• W3021566002 cites W2292932642 @default.
• W3021566002 cites W2320665909 @default.
• W3021566002 cites W2323613689 @default.
• W3021566002 cites W2438153122 @default.
• W3021566002 cites W2466367464 @default.
• W3021566002 cites W2518229080 @default.
• W3021566002 cites W2557181747 @default.
• W3021566002 cites W2594566409 @default.
• W3021566002 cites W2599797927 @default.
• W3021566002 cites W2764213443 @default.
• W3021566002 cites W2771247031 @default.
• W3021566002 cites W2782968073 @default.
• W3021566002 cites W2792804319 @default.
• W3021566002 cites W2804993664 @default.
• W3021566002 cites W2893932486 @default.
• W3021566002 cites W2894807422 @default.
• W3021566002 cites W2895395864 @default.
• W3021566002 cites W2897332606 @default.
• W3021566002 cites W2916744594 @default.
• W3021566002 cites W2935904135 @default.
• W3021566002 cites W2945182189 @default.
• W3021566002 cites W2969783143 @default.
• W3021566002 cites W2981137429 @default.
• W3021566002 cites W3003384135 @default.
• W3021566002 cites W4253936898 @default.
• W3021566002 cites W4321429479 @default.
• W3021566002 cites W4362225796 @default.
• W3021566002 doi "https://doi.org/10.1210/endrev/bnaa013" @default.
• W3021566002 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7286618" @default.
• W3021566002 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32364223" @default.
• W3021566002 hasPublicationYear "2020" @default.
• W3021566002 type Work @default.
• W3021566002 sameAs 3021566002 @default.
• W3021566002 citedByCount "32" @default.
• W3021566002 countsByYear W30215660022020 @default.
• W3021566002 countsByYear W30215660022021 @default.
• W3021566002 countsByYear W30215660022022 @default.

• next