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Quoted phrase not found in phrase index: "Intellectual disability, X-linked 61"
Page 1
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 …
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.
van Geest FS, Groeneweg S, van den Akker ELT, Bacos I, Barca D, van den Berg SAA, Bertini E, Brunner D, Brunetti-Pierri N, Cappa M, Cappuccio G, Chatterjee K, Chesover AD, Christian P, Coutant R, Craiu D, Crock P, Dewey C, Dica A, Dimitri P, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi LR, George B, Hackenberg A, Heinrich B, Huynh T, Kłosowska A, Lawson-Yuen A, Linder-Lucht M, Lyons G, Monti Lora F, Moran C, Müller KE, Paone L, Paul PG, Polak M, Porta F, Reinauer C, de Rijke YB, Seckold R, Menevşe TS, Simm P, Simon A, Spada M, Stoupa A, Szeifert L, Tonduti D, van Toor H, Turan S, Vanderniet J, de Waart M, van der Wal R, van der Walt A, van Wermeskerken AM, Wierzba J, Zibordi F, Zung A, Peeters RP, Visser WE. van Geest FS, et al. J Clin Endocrinol Metab. 2022 Feb 17;107(3):e1136-e1147. doi: 10.1210/clinem/dgab750. J Clin Endocrinol Metab. 2022. PMID: 34679181 Free PMC article.
CONTEXT: Patients with mutations in thyroid hormone transporter MCT8 have developmental delay and chronic thyrotoxicosis associated with being underweight and having cardiovascular dysfunction. OBJECTIVE: Our previous trial showed improvement of key clinical and bio …
CONTEXT: Patients with mutations in thyroid hormone transporter MCT8 have developmental delay and chronic thyrotoxicosis associated with bei …
Non-random maternal X-chromosome inactivation associated with PHACES.
Levin JH, Kaler SG. Levin JH, et al. Clin Genet. 2007 Oct;72(4):345-50. doi: 10.1111/j.1399-0004.2007.00851.x. Clin Genet. 2007. PMID: 17850631
We documented consistently skewed X-inactivation (80%/20% in two independent analyses) in the unaffected mother and consistently random X-inactivation (47:53 and 61:39 in independent analyses) in the proband. These findings are consistent with favorably skewed X-ina …
We documented consistently skewed X-inactivation (80%/20% in two independent analyses) in the unaffected mother and consistently random …
Multifaceted Approach for Quantification and Enzymatic Activity of Iduronate-2-Sulfatase to Support Developing Gene Therapy for Hunter Syndrome.
Franchi PM, Kulagina N, Ilinskaya A, Hoffpauir B, Qian MG, Sugimoto H. Franchi PM, et al. AAPS J. 2023 Jun 20;25(4):61. doi: 10.1208/s12248-023-00821-6. AAPS J. 2023. PMID: 37340133
Mucopolysaccharidosis type II, commonly called Hunter syndrome, is a rare X-linked recessive disease caused by the deficiency of the lysosomal enzyme iduronate-2-sulphatase (I2S). ...
Mucopolysaccharidosis type II, commonly called Hunter syndrome, is a rare X-linked recessive disease caused by the deficiency …
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.
Groeneweg S, Peeters RP, Moran C, Stoupa A, Auriol F, Tonduti D, Dica A, Paone L, Rozenkova K, Malikova J, van der Walt A, de Coo IFM, McGowan A, Lyons G, Aarsen FK, Barca D, van Beynum IM, van der Knoop MM, Jansen J, Manshande M, Lunsing RJ, Nowak S, den Uil CA, Zillikens MC, Visser FE, Vrijmoeth P, de Wit MCY, Wolf NI, Zandstra A, Ambegaonkar G, Singh Y, de Rijke YB, Medici M, Bertini ES, Depoorter S, Lebl J, Cappa M, De Meirleir L, Krude H, Craiu D, Zibordi F, Oliver Petit I, Polak M, Chatterjee K, Visser TJ, Visser WE. Groeneweg S, et al. Lancet Diabetes Endocrinol. 2019 Sep;7(9):695-706. doi: 10.1016/S2213-8587(19)30155-X. Epub 2019 Jul 31. Lancet Diabetes Endocrinol. 2019. PMID: 31377265 Free PMC article. Clinical Trial.
BACKGROUND: Deficiency of the thyroid hormone transporter monocarboxylate transporter 8 (MCT8) causes severe intellectual and motor disability and high serum tri-iodothyronine (T(3)) concentrations (Allan-Herndon-Dudley syndrome). ...Of these 45 patients, five did n …
BACKGROUND: Deficiency of the thyroid hormone transporter monocarboxylate transporter 8 (MCT8) causes severe intellectual and motor …
Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy.
Loes DJ, Fatemi A, Melhem ER, Gupte N, Bezman L, Moser HW, Raymond GV. Loes DJ, et al. Neurology. 2003 Aug 12;61(3):369-74. doi: 10.1212/01.wnl.0000079050.91337.83. Neurology. 2003. PMID: 12913200
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) has variants with widely different outcomes, hampering clinical counseling and evaluation of therapies. ...
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) has variants with widely different outcomes, hampering clinical couns …
A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.
Schanen NC, Dahle EJ, Capozzoli F, Holm VA, Zoghbi HY, Francke U. Schanen NC, et al. Am J Hum Genet. 1997 Sep;61(3):634-41. doi: 10.1086/515525. Am J Hum Genet. 1997. PMID: 9326329 Free PMC article.
The exclusive occurrence of classic RTT in females led to the hypothesis that it is X-linked and may be lethal in males. In an X-linked dominant disorder, unaffected obligate-carrier females would be expected to show nonrandom or skewed inactivation of …
The exclusive occurrence of classic RTT in females led to the hypothesis that it is X-linked and may be lethal in males. In an …
Adrenal steroids in adrenomyeloneuropathy. Dehydroepiandrosterone sulfate, androstenedione and 17alpha-hydroxyprogesterone.
Wichers-Rother M, Grigull A, Sokolowski P, Stoffel-Wagner B, Köhler W. Wichers-Rother M, et al. J Neurol. 2005 Dec;252(12):1525-9. doi: 10.1007/s00415-005-0908-7. J Neurol. 2005. PMID: 16362829
Adrenoleukodystrophy (ALD) and its adult variant adrenomyeloneuropathy (AMN) are X-linked diseases associated with a deficiency in the peroxisomal degradation of saturated very long chain fatty acids (VLCFA) resulting in an accumulation of VLCFA in the central and p …
Adrenoleukodystrophy (ALD) and its adult variant adrenomyeloneuropathy (AMN) are X-linked diseases associated with a deficienc …
A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.
Chung YK, Sohn YB, Sohn JM, Lee J, Chang MS, Kwun Y, Kim CH, Lee JY, Yook YJ, Ko AR, Jin DK. Chung YK, et al. Glycoconj J. 2014 May;31(4):309-15. doi: 10.1007/s10719-014-9523-0. Epub 2014 Apr 30. Glycoconj J. 2014. PMID: 24781369
Mucopolysaccharidosis II (MPS II, Hunter syndrome; OMIM 309900) is an X-linked lysosomal storage disease caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS), leading to accumulation of glycosaminoglycans (GAGs). ...However, the cellular uptake activity …
Mucopolysaccharidosis II (MPS II, Hunter syndrome; OMIM 309900) is an X-linked lysosomal storage disease caused by a deficienc …
Use of propofol anesthesia during outpatient radiographic imaging studies in patients with Lesch-Nyhan syndrome.
Williams KS, Hankerson JG, Ernst M, Zametkin A. Williams KS, et al. J Clin Anesth. 1997 Feb;9(1):61-5. doi: 10.1016/S0952-8180(96)00177-8. J Clin Anesth. 1997. PMID: 9051548 Free article. Clinical Trial.
Lesch-Nyhan syndrome is a rare, x-linked, recessive disorder of purine metabolism resulting in hyperuricemia, spasticity, choreoathetosis, dystonia, self-injurious behavior, and aggression, without significant cognitive impairment. ...
Lesch-Nyhan syndrome is a rare, x-linked, recessive disorder of purine metabolism resulting in hyperuricemia, spasticity, chor …