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Quoted phrase not found in phrase index: "Intellectual disability, X-linked 88"
Page 1
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
Eichler F, Duncan C, Musolino PL, Orchard PJ, De Oliveira S, Thrasher AJ, Armant M, Dansereau C, Lund TC, Miller WP, Raymond GV, Sankar R, Shah AJ, Sevin C, Gaspar HB, Gissen P, Amartino H, Bratkovic D, Smith NJC, Paker AM, Shamir E, O'Meara T, Davidson D, Aubourg P, Williams DA. Eichler F, et al. N Engl J Med. 2017 Oct 26;377(17):1630-1638. doi: 10.1056/NEJMoa1700554. Epub 2017 Oct 4. N Engl J Med. 2017. PMID: 28976817 Free PMC article. Clinical Trial.
BACKGROUND: In X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of function of the ALD protein. ...No treatment-related death or graft-versus-host disease had been reported; 15 of the 17 patients (88%) were alive and free of major functional …
BACKGROUND: In X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of function of the ALD protein. ...No treatment- …
X-linked intellectual disability: Phenotypic expression in carrier females.
Ziats CA, Schwartz CE, Gecz J, Shaw M, Field MJ, Stevenson RE, Neri G. Ziats CA, et al. Clin Genet. 2020 Mar;97(3):418-425. doi: 10.1111/cge.13667. Epub 2019 Nov 24. Clin Genet. 2020. PMID: 31705537
To better understand the landscape of female phenotypic expression in X-linked intellectual disability (XLID), we surveyed the literature for female carriers of XLID gene alterations (n = 1098) and combined this with experience evaluating XLID kindreds …
To better understand the landscape of female phenotypic expression in X-linked intellectual disability (XLID), w …
Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.
Cutri-French C, Armstrong D, Saby J, Gorman C, Lane J, Fu C, Peters SU, Percy A, Neul JL, Marsh ED. Cutri-French C, et al. Ann Neurol. 2020 Aug;88(2):396-406. doi: 10.1002/ana.25797. Epub 2020 Jun 29. Ann Neurol. 2020. PMID: 32472944 Free PMC article. Clinical Trial.
Clinical features including clinical severity, regression, and seizures were cross-sectionally compared between diagnoses to test the hypothesis that these are 4 distinct disorders. ...These results will aid in the development of disease-specific severity scales, pr …
Clinical features including clinical severity, regression, and seizures were cross-sectionally compared between diagnoses to t …
A model-based approach to assess the exposure-response relationship of Lorenzo's oil in adrenoleukodystrophy.
Ahmed MA, Kartha RV, Brundage RC, Cloyd J, Basu C, Carlin BP, Jones RO, Moser AB, Fatemi A, Raymond GV. Ahmed MA, et al. Br J Clin Pharmacol. 2016 Jun;81(6):1058-66. doi: 10.1111/bcp.12897. Epub 2016 Apr 3. Br J Clin Pharmacol. 2016. PMID: 26836218 Free PMC article. Clinical Trial.
AIMS: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder, most commonly affecting boys, associated with increased very long chain fatty acids (C26:0) in all tissues, causing cerebral demyelination and adrenocortical insufficiency. ...METHODS: Non-linear …
AIMS: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder, most commonly affecting boys, associated with increased …
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron AL, Mugneret F, Le Meur N, Goldenberg A, Guerrot AM, Chambon P, Satre V, Coutton C, Jouk PS, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard ML, Addor MC, Lebon S, Martinet D, Alessandri JL, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet AC, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L. El Chehadeh S, et al. Clin Genet. 2017 Apr;91(4):576-588. doi: 10.1111/cge.12898. Epub 2017 Feb 16. Clin Genet. 2017. PMID: 27761913
One patient was adopted and among the other 19 patients, seven (37%) had inherited their duplication from their mother, including three mildly (XCI: 70/30, 63/37, 100/0 in blood and random in saliva), one moderately (XCI: random) and three severely (XCI: uninformati …
One patient was adopted and among the other 19 patients, seven (37%) had inherited their duplication from their mother, including three mild …