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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1967 1
1968 1
1970 4
1972 1
1975 1
1981 1
1983 2
1984 1
1985 2
1987 2
1988 2
1989 2
1991 3
1992 2
1993 1
1994 4
1995 3
1996 2
1998 5
1999 8
2000 2
2001 2
2002 2
2003 4
2004 4
2005 5
2006 2
2007 4
2008 4
2009 4
2010 5
2011 5
2012 7
2013 7
2014 10
2015 13
2016 7
2017 6
2018 9
2019 10
2020 9
2021 7
2022 12
2023 10
2024 3

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176 results

Results by year

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Page 1
Classification criteria for autoinflammatory recurrent fevers.
Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, Anton J, Arostegui JI, Barron K, Ben-Cherit E, Brogan PA, Cantarini L, Ceccherini I, De Benedetti F, Dedeoglu F, Demirkaya E, Frenkel J, Goldbach-Mansky R, Gul A, Hentgen V, Hoffman H, Kallinich T, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Laxer RM, Livneh A, Obici L, Ozen S, Rowczenio D, Russo R, Shinar Y, Simon A, Toplak N, Touitou I, Uziel Y, van Gijn M, Foell D, Garassino C, Kastner D, Martini A, Sormani MP, Ruperto N; Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO). Gattorno M, et al. Ann Rheum Dis. 2019 Aug;78(8):1025-1032. doi: 10.1136/annrheumdis-2019-215048. Epub 2019 Apr 24. Ann Rheum Dis. 2019. PMID: 31018962 Review.
X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies.
Turk BR, Theda C, Fatemi A, Moser AB. Turk BR, et al. Int J Dev Neurosci. 2020 Feb;80(1):52-72. doi: 10.1002/jdn.10003. Epub 2020 Jan 26. Int J Dev Neurosci. 2020. PMID: 31909500 Free PMC article. Review.
Adrenoleukodystrophy (ALD) is a rare X-linked disease caused by a mutation of the peroxisomal ABCD1 gene. This review summarizes our current understanding of the pathogenic cell- and tissue-specific roles of lipid species in the context of experimental therapeutic s …
Adrenoleukodystrophy (ALD) is a rare X-linked disease caused by a mutation of the peroxisomal ABCD1 gene. This review summarizes our …
An update on the diagnosis and treatment of adrenoleukodystrophy.
Gujral J, Sethuram S. Gujral J, et al. Curr Opin Endocrinol Diabetes Obes. 2023 Feb 1;30(1):44-51. doi: 10.1097/MED.0000000000000782. Epub 2022 Nov 14. Curr Opin Endocrinol Diabetes Obes. 2023. PMID: 36373727 Review.
There remains a significant knowledge gap in our understanding and treatment of this disease. Novel therapies such as gene therapy and gene editing have shown promising results in animal models and are exciting potential treatment options for the future.Recently, th …
There remains a significant knowledge gap in our understanding and treatment of this disease. Novel therapies such as gene therapy …
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.
Engelen M, van Ballegoij WJC, Mallack EJ, Van Haren KP, Köhler W, Salsano E, van Trotsenburg ASP, Mochel F, Sevin C, Regelmann MO, Tritos NA, Halper A, Lachmann RH, Davison J, Raymond GV, Lund TC, Orchard PJ, Kuehl JS, Lindemans CA, Caruso P, Turk BR, Moser AB, Vaz FM, Ferdinandusse S, Kemp S, Fatemi A, Eichler FS, Huffnagel IC. Engelen M, et al. Neurology. 2022 Nov 22;99(21):940-951. doi: 10.1212/WNL.0000000000201374. Epub 2022 Sep 29. Neurology. 2022. PMID: 36175155 Free PMC article.
This knowledge gap should direct future research and illustrates once again that international collaboration among physicians, researchers, and patients is essential to improving care....
This knowledge gap should direct future research and illustrates once again that international collaboration among physicians, researchers, …
Glycine-based treatment ameliorates NAFLD by modulating fatty acid oxidation, glutathione synthesis, and the gut microbiome.
Rom O, Liu Y, Liu Z, Zhao Y, Wu J, Ghrayeb A, Villacorta L, Fan Y, Chang L, Wang L, Liu C, Yang D, Song J, Rech JC, Guo Y, Wang H, Zhao G, Liang W, Koike Y, Lu H, Koike T, Hayek T, Pennathur S, Xi C, Wen B, Sun D, Garcia-Barrio MT, Aviram M, Gottlieb E, Mor I, Liu W, Zhang J, Chen YE. Rom O, et al. Sci Transl Med. 2020 Dec 2;12(572):eaaz2841. doi: 10.1126/scitranslmed.aaz2841. Sci Transl Med. 2020. PMID: 33268508 Free PMC article.
Nonalcoholic fatty liver disease (NAFLD) including nonalcoholic steatohepatitis (NASH) has reached epidemic proportions with no pharmacological therapy approved. Lower circulating glycine is consistently reported in patients with NAFLD, but the causes for reduced glycine, …
Nonalcoholic fatty liver disease (NAFLD) including nonalcoholic steatohepatitis (NASH) has reached epidemic proportions with no pharmacologi …
The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist.
Romano M, Arici ZS, Piskin D, Alehashemi S, Aletaha D, Barron KS, Benseler S, Berard R, Broderick L, Dedeoglu F, Diebold M, Durrant KL, Ferguson P, Foell D, Hausmann J, Jones OY, Kastner DL, Lachmann HJ, Laxer RM, Rivera D, Ruperto N, Simon A, Twilt M, Frenkel J, Hoffman H, de Jesus AA, Kuemmerle-Deschner JB, Ozen S, Gattorno M, Goldbach-Mansky R, Demirkaya E. Romano M, et al. Ann Rheum Dis. 2022 Jul;81(7):907-921. doi: 10.1136/annrheumdis-2021-221801. Epub 2022 May 27. Ann Rheum Dis. 2022. PMID: 35623638
Consensus methodology was used to formulate and vote on statements to guide optimal patient care. RESULTS: The task force devised five overarching principles, 14 statements related to diagnosis, 10 on therapy, and nine focused on long-term monitoring that were evide …
Consensus methodology was used to formulate and vote on statements to guide optimal patient care. RESULTS: The task force devised fiv …
Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy.
Gupta AO, Raymond G, Pierpont EI, Kemp S, McIvor RS, Rayannavar A, Miller B, Lund TC, Orchard PJ. Gupta AO, et al. Expert Opin Biol Ther. 2022 Sep;22(9):1151-1162. doi: 10.1080/14712598.2022.2124857. Epub 2022 Sep 19. Expert Opin Biol Ther. 2022. PMID: 36107226 Review.
A focused literature review was performed using the terms 'hematopoietic stem cell transplantation,' 'gene therapy' and 'adrenoleukodystrophy' to include relevant literature, especially comparing the experience with gene therapy and HSCT outcomes. We review the hist …
A focused literature review was performed using the terms 'hematopoietic stem cell transplantation,' 'gene therapy' and 'adrenoleukod …
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M. Braverman NE, et al. Mol Genet Metab. 2016 Mar;117(3):313-21. doi: 10.1016/j.ymgme.2015.12.009. Epub 2015 Dec 23. Mol Genet Metab. 2016. PMID: 26750748 Free PMC article. Review.
Peroxisome biogenesis disorders in the Zellweger spectrum (PBD-ZSD) are a heterogeneous group of genetic disorders caused by mutations in PEX genes responsible for normal peroxisome assembly and functions. As a result of impaired peroxisomal activities, indiv …
Peroxisome biogenesis disorders in the Zellweger spectrum (PBD-ZSD) are a heterogeneous group of genetic disorders caused by m …
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
Engelen M, Kemp S, de Visser M, van Geel BM, Wanders RJ, Aubourg P, Poll-The BT. Engelen M, et al. Orphanet J Rare Dis. 2012 Aug 13;7:51. doi: 10.1186/1750-1172-7-51. Orphanet J Rare Dis. 2012. PMID: 22889154 Free PMC article.
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids (VL …
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene t …
176 results