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Quoted phrase not found in phrase index: "Intellectual disability, X-linked 49"
Page 1
The clinical spectrum of X-linked adrenoleukodystrophy: from Addison's-only in men to middle-age neurologic manifestations in women.
Fadiga L, Melo M, Saraiva J, Paiva I. Fadiga L, et al. Hormones (Athens). 2022 Mar;21(1):33-40. doi: 10.1007/s42000-021-00325-y. Epub 2021 Oct 15. Hormones (Athens). 2022. PMID: 34652632 Review.
X-linked adrenoleukodystrophy (X-ALD) is caused by a mutation in the ABCD1 gene which encodes for a peroxisomal very long-chain fatty acid (VLCFA) transporter. ...Case 2 was a woman with progressive spastic gait disturbance that started at 49 years old. The d …
X-linked adrenoleukodystrophy (X-ALD) is caused by a mutation in the ABCD1 gene which encodes for a peroxisomal very long-chai …
Human chromosome fragility.
Lukusa T, Fryns JP. Lukusa T, et al. Biochim Biophys Acta. 2008 Jan;1779(1):3-16. doi: 10.1016/j.bbagrm.2007.10.005. Epub 2007 Dec 3. Biochim Biophys Acta. 2008. PMID: 18078840 Review.
Mental retardation in this syndrome is considered as resulting from the abolition of the FMR1 gene expression due to hypermethylation of the gene CpG islands adjacent to the expanded methylated trinucleotide repeat. FRAXE is associated with X-linked non-specific men …
Mental retardation in this syndrome is considered as resulting from the abolition of the FMR1 gene expression due to hypermethylation of the …
Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.
Duszyc K, Terczynska I, Hoffman-Zacharska D. Duszyc K, et al. J Appl Genet. 2015 Feb;56(1):49-56. doi: 10.1007/s13353-014-0243-8. Epub 2014 Sep 10. J Appl Genet. 2015. PMID: 25204757 Review.
Epilepsy in females with mental retardation (EFMR) is a rare early infantile epileptic encephalopathy (EIEE), phenotypically resembling Dravet syndrome (DS). It is characterised by a variable degree of intellectual deficits and epilepsy. EFMR is caused by heterozygous muta …
Epilepsy in females with mental retardation (EFMR) is a rare early infantile epileptic encephalopathy (EIEE), phenotypically resembling Drav …
Disease progression in women with X-linked adrenoleukodystrophy is slow.
Huffnagel IC, Dijkgraaf MGW, Janssens GE, van Weeghel M, van Geel BM, Poll-The BT, Kemp S, Engelen M. Huffnagel IC, et al. Orphanet J Rare Dis. 2019 Feb 7;14(1):30. doi: 10.1186/s13023-019-1008-6. Orphanet J Rare Dis. 2019. PMID: 30732635 Free PMC article.
BACKGROUND: Over 80% of women with X-linked adrenoleukodystrophy (ALD) develop spinal cord disease in adulthood for which treatment is supportive only. ...The purpose of this single centre cross-sectional follow-up study in women with ALD was to assess whether Expan …
BACKGROUND: Over 80% of women with X-linked adrenoleukodystrophy (ALD) develop spinal cord disease in adulthood for which trea …
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
Philips AK, Sirén A, Avela K, Somer M, Peippo M, Ahvenainen M, Doagu F, Arvio M, Kääriäinen H, Van Esch H, Froyen G, Haas SA, Hu H, Kalscheuer VM, Järvelä I. Philips AK, et al. Orphanet J Rare Dis. 2014 Apr 11;9:49. doi: 10.1186/1750-1172-9-49. Orphanet J Rare Dis. 2014. PMID: 24721225 Free PMC article.
BACKGROUND: X-linked intellectual disability (XLID) is a group of genetically heterogeneous disorders characterized by substantial impairment in cognitive abilities, social and behavioral adaptive skills. ...METHODS & OBJECTIVES: Enrichment of X-ch …
BACKGROUND: X-linked intellectual disability (XLID) is a group of genetically heterogeneous disorders characteri …
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
da Silva EM, Strufaldi MW, Andriolo RB, Silva LA. da Silva EM, et al. Cochrane Database Syst Rev. 2016 Feb 5;2(2):CD008185. doi: 10.1002/14651858.CD008185.pub4. Cochrane Database Syst Rev. 2016. PMID: 26845288 Free PMC article. Review.
BACKGROUND: Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans. ...The every-other-week idursulfase …
BACKGROUND: Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the …
Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study.
Muenzer J, Burton BK, Amartino HM, Harmatz PR, Gutiérrez-Solana LG, Ruiz-Garcia M, Wu Y, Merberg D, Alexanderian D, Jones SA. Muenzer J, et al. Orphanet J Rare Dis. 2023 Nov 16;18(1):357. doi: 10.1186/s13023-023-02805-3. Orphanet J Rare Dis. 2023. PMID: 37974184 Free PMC article.
BACKGROUND: Mucopolysaccharidosis (MPS) II is a rare, X-linked lysosomal storage disease. Approximately two-thirds of patients have central nervous system involvement with some demonstrating progressive cognitive impairment (neuronopathic disease). ...No clear subgr …
BACKGROUND: Mucopolysaccharidosis (MPS) II is a rare, X-linked lysosomal storage disease. Approximately two-thirds of patients …
Childhood cerebral adrenoleukodystrophy (CCALD) in France: epidemiology, natural history, and burden of disease - A population-based study.
Sevin C, Hatteb S, Clément A, Bignami F, Chillotti L, Bugnard F, Bénard S, Boespflug-Tanguy O. Sevin C, et al. Orphanet J Rare Dis. 2023 Aug 10;18(1):238. doi: 10.1186/s13023-023-02843-x. Orphanet J Rare Dis. 2023. PMID: 37563635 Free PMC article.
BACKGROUND: X-linked adrenoleukodystrophy (ALD) is a rare metabolic and neurodegenerative disorder belonging to the group of leukodystrophies, with an estimated incidence around 1:25 000 newborns worldwide, mostly among men. ...Mean annualized costs were almost twic …
BACKGROUND: X-linked adrenoleukodystrophy (ALD) is a rare metabolic and neurodegenerative disorder belonging to the group of l …
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
da Silva EM, Strufaldi MW, Andriolo RB, Silva LA. da Silva EM, et al. Cochrane Database Syst Rev. 2014 Jan 8;(1):CD008185. doi: 10.1002/14651858.CD008185.pub3. Cochrane Database Syst Rev. 2014. PMID: 24399699 Updated. Review.
BACKGROUND: Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans. ...The every-other-week idursulfase …
BACKGROUND: Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the …
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
da Silva EM, Strufaldi MW, Andriolo RB, Silva LA. da Silva EM, et al. Cochrane Database Syst Rev. 2011 Nov 9;(11):CD008185. doi: 10.1002/14651858.CD008185.pub2. Cochrane Database Syst Rev. 2011. PMID: 22071845 Updated. Review.
BACKGROUND: Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans. ...The every-other-week idursulfase …
BACKGROUND: Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the …
27 results