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Trofinetide: a pioneering treatment for Rett syndrome.
Parent H, Ferranti A, Niswender C. Parent H, et al. Trends Pharmacol Sci. 2023 Oct;44(10):740-741. doi: 10.1016/j.tips.2023.06.008. Epub 2023 Jul 16. Trends Pharmacol Sci. 2023. PMID: 37460385
[Image: see text] MECHANISM OF ACTION: Rett syndrome is a neurodevelopmental disease caused by mutations in the X-linked Methyl CpG Binding Protein 2 (MECP2) gene, affecting primarily females. ...IGF-1 has also been reported to be an essential component of synaptic …
[Image: see text] MECHANISM OF ACTION: Rett syndrome is a neurodevelopmental disease caused by mutations in the X-linked Methy …
MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.
Mallack EJ, Turk BR, Yan H, Price C, Demetres M, Moser AB, Becker C, Hollandsworth K, Adang L, Vanderver A, Van Haren K, Ruzhnikov M, Kurtzberg J, Maegawa G, Orchard PJ, Lund TC, Raymond GV, Regelmann M, Orsini JJ, Seeger E, Kemp S, Eichler F, Fatemi A. Mallack EJ, et al. J Inherit Metab Dis. 2021 May;44(3):728-739. doi: 10.1002/jimd.12356. Epub 2021 Jan 9. J Inherit Metab Dis. 2021. PMID: 33373467 Free PMC article.
BACKGROUND: Among boys with X-Linked adrenoleukodystrophy, a subset will develop childhood cerebral adrenoleukodystrophy (CCALD). ...Conventional MRI was most frequently reported, comprised most often of T2-weighted and contrast-enhanced T1-weighted MRI. The expert …
BACKGROUND: Among boys with X-Linked adrenoleukodystrophy, a subset will develop childhood cerebral adrenoleukodystrophy (CCAL …
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR. Agrawal N, et al. Eur J Med Genet. 2022 Mar;65(3):104447. doi: 10.1016/j.ejmg.2022.104447. Epub 2022 Feb 8. Eur J Med Genet. 2022. PMID: 35144014
MPS II is an X linked recessive lysosomal storage disorder with multi-system involvement and marked molecular heterogeneity. ...Positive family history was present in 31% (41/130) of patients. Developmental delay and intellectual disability were the ma …
MPS II is an X linked recessive lysosomal storage disorder with multi-system involvement and marked molecular heterogeneity. . …
Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme.
Bessey A, Chilcott JB, Leaviss J, Sutton A. Bessey A, et al. Orphanet J Rare Dis. 2018 Oct 11;13(1):179. doi: 10.1186/s13023-018-0921-4. Orphanet J Rare Dis. 2018. PMID: 30309370 Free PMC article.
BACKGROUND: A decision tree model was built to estimate the economic impact of introducing screening for X-linked adrenoleukodystrophy (X-ALD) into an existing tandem mass spectrometry based newborn screening programme. ...If results for girls are returned an additi …
BACKGROUND: A decision tree model was built to estimate the economic impact of introducing screening for X-linked adrenoleukod …
Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition.
Thomas LA, Lewis S, Massie J, Kirk EP, Archibald AD, Barlow-Stewart K, Boardman FK, Halliday J, McClaren B, Delatycki MB. Thomas LA, et al. Eur J Med Genet. 2020 Dec;63(12):104075. doi: 10.1016/j.ejmg.2020.104075. Epub 2020 Sep 30. Eur J Med Genet. 2020. PMID: 33007447
Reproductive genetic carrier screening identifies couples with an increased chance of having children with autosomal and X-linked recessive conditions. Initially only offered for single conditions to people with a high priori risk, carrier screening is becoming incr …
Reproductive genetic carrier screening identifies couples with an increased chance of having children with autosomal and X-linked …
Attitudes toward presymptomatic testing and prenatal diagnosis for adrenoleukodystrophy among affected families.
Costakos D, Abramson RK, Edwards JG, Rizzo WB, Best RG. Costakos D, et al. Am J Med Genet. 1991 Dec 1;41(3):295-300. doi: 10.1002/ajmg.1320410307. Am J Med Genet. 1991. PMID: 1789282
One hundred and thirty-six individuals with a family history of X-linked adrenoleukodystrophy (ALD) or adrenomyeloneuropathy (AMN) were given a questionnaire surveying their sociodemographic characteristics, knowledge of X-linked inheritance, and attit …
One hundred and thirty-six individuals with a family history of X-linked adrenoleukodystrophy (ALD) or adrenomyeloneuropathy ( …
Prenatal diagnosis of X-linked mental retardation with fragile (X) using fetoscopy and fetal blood sampling.
Webb T, Gosden CM, Rodeck CH, Hamill MA, Eason PE. Webb T, et al. Prenat Diagn. 1983 Apr-Jun;3(2):131-7. doi: 10.1002/pd.1970030210. Prenat Diagn. 1983. PMID: 6622392
Pure fetal blood, (uncontaminated with maternal blood), was obtained from two male fetuses at risk for X-linked mental retardation with fragile(X) at Xq27-28 by direct vision fetoscopy and fetal blood sampling. Both were shown to have this fragile site on the X chro …
Pure fetal blood, (uncontaminated with maternal blood), was obtained from two male fetuses at risk for X-linked mental retarda …
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.
Poirier K, Lacombe D, Gilbert-Dussardier B, Raynaud M, Desportes V, de Brouwer AP, Moraine C, Fryns JP, Ropers HH, Beldjord C, Chelly J, Bienvenu T. Poirier K, et al. Neurogenetics. 2006 Mar;7(1):39-46. doi: 10.1007/s10048-005-0014-0. Epub 2005 Oct 19. Neurogenetics. 2006. PMID: 16235064
Mutations in the human ARX gene have been shown to cause nonsyndromic X-linked mental retardation (MRX) as well as syndromic forms such as X-linked lissencephaly with abnormal genitalia (XLAG), Partington syndrome and X-linked infantile s …
Mutations in the human ARX gene have been shown to cause nonsyndromic X-linked mental retardation (MRX) as well as syndromic f …
Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.
de Vries BB, van den Ouweland AM, Mohkamsing S, Duivenvoorden HJ, Mol E, Gelsema K, van Rijn M, Halley DJ, Sandkuijl LA, Oostra BA, Tibben A, Niermeijer MF. de Vries BB, et al. Am J Hum Genet. 1997 Sep;61(3):660-7. doi: 10.1086/515496. Am J Hum Genet. 1997. PMID: 9326332 Free PMC article.
The fragile X syndrome is an X-linked mental retardation disorder caused by an expanded CGG repeat in the first exon of the fragile X mental retardation (FMR1) gene. Its frequency, X-linked inheritance, and consequences for relatives all prompt for dia …
The fragile X syndrome is an X-linked mental retardation disorder caused by an expanded CGG repeat in the first exon of the fr …