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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 the …
Adrenoleukodystrophy (ALD) is a rare X-linked disease caused by a mutation of the peroxisomal ABCD1 gene. This review s …
Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.
Germain DP, Fouilhoux A, Decramer S, Tardieu M, Pillet P, Fila M, Rivera S, Deschênes G, Lacombe D. Germain DP, et al. Clin Genet. 2019 Aug;96(2):107-117. doi: 10.1111/cge.13546. Epub 2019 Jun 6. Clin Genet. 2019. PMID: 30941742 Free PMC article.
Fabry disease (FD), a rare X-linked disease, can be treated with bi-monthly infusion of enzyme replacement therapy (ERT) to replace deficient alpha-galactosidase A (AGAL-A). ...
Fabry disease (FD), a rare X-linked disease, can be treated with bi-monthly infusion of enzyme replacement th …
Fabry disease during the COVID-19 pandemic. Why and how treatment should be continued.
Politei J. Politei J. Mol Genet Metab. 2020 Aug;130(4):227-229. doi: 10.1016/j.ymgme.2020.06.002. Epub 2020 Jun 6. Mol Genet Metab. 2020. PMID: 32561366 Free PMC article.
Fabry disease is an X-linked disease due to a deficiency of the lysosomal enzyme alpha-galactosidase A. ...Sentence take-home message: Home-therapy, when possible, seems to be the most efficient way to maintain enzyme replacement therapy …
Fabry disease is an X-linked disease due to a deficiency of the lysosomal enzyme alpha-galactosidase A. ...Sente …
Immune complications and their management in inherited and acquired bleeding disorders.
Arruda VR, Lillicrap D, Herzog RW. Arruda VR, et al. Blood. 2022 Sep 8;140(10):1075-1085. doi: 10.1182/blood.2022016530. Blood. 2022. PMID: 35793465 Free PMC article.
In the latter case, antidrug antibodies (ADAs) may form against the clotting factor protein drugs used in replacement therapy, as is well documented in the treatment of the X-linked disease hemophilia. ...Choice of immune or alternative therapy …
In the latter case, antidrug antibodies (ADAs) may form against the clotting factor protein drugs used in replacement therapy, as is …
RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?
Veltel S, Wittinghofer A. Veltel S, et al. Expert Opin Ther Targets. 2009 Oct;13(10):1239-51. doi: 10.1517/14728220903225016. Expert Opin Ther Targets. 2009. PMID: 19702441 Review.
Retinitis pigmentosa is the most important hereditary eye disease and there is currently no cure available. Although mutations were found in more than 40 genes in patients with retinitis pigmentosa, only two genes have thus far been found to be responsible for one of the m …
Retinitis pigmentosa is the most important hereditary eye disease and there is currently no cure available. Although mutations were f …
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.
Taylor RL, Parry NRA, Barton SJ, Campbell C, Delaney CM, Ellingford JM, Hall G, Hardcastle C, Morarji J, Nichol EJ, Williams LC, Douzgou S, Clayton-Smith J, Ramsden SC, Sharma V, Biswas S, Lloyd IC, Ashworth JL, Black GC, Sergouniotis PI. Taylor RL, et al. Ophthalmology. 2017 Jul;124(7):985-991. doi: 10.1016/j.ophtha.2017.02.005. Epub 2017 Mar 22. Ophthalmology. 2017. PMID: 28341476
RESULTS: Overall, 78.8% of patients (n = 67) received a probable molecular diagnosis; 7.5% (n = 5) of these had autosomal dominant disease, 25.4% (n = 17) had X-linked disease, and 67.2% (n = 45) had autosomal recessive disease. ...Approaches si …
RESULTS: Overall, 78.8% of patients (n = 67) received a probable molecular diagnosis; 7.5% (n = 5) of these had autosomal dominant diseas …
Agalsidase alfa for the treatment of Fabry disease: new data on clinical efficacy and safety.
Beck M. Beck M. Expert Opin Biol Ther. 2009 Feb;9(2):255-61. doi: 10.1517/14712590802658428. Expert Opin Biol Ther. 2009. PMID: 19236256 Review.
BACKGROUND: Fabry disease is an X-linked disease caused by the deficiency of the lysosomal enzyme alpha-galactosidase A. ...It is able slow down progression of renal failure in patients with end-stage renal disease....
BACKGROUND: Fabry disease is an X-linked disease caused by the deficiency of the lysosomal enzyme alpha-galactos …
The fragile X syndrome: exploring its molecular basis and seeking a treatment.
Bardoni B, Davidovic L, Bensaid M, Khandjian EW. Bardoni B, et al. Expert Rev Mol Med. 2006 Apr 21;8(8):1-16. doi: 10.1017/S1462399406010751. Expert Rev Mol Med. 2006. PMID: 16626504 Review.
Fragile X syndrome (FXS) - the leading cause of inherited mental retardation - is an X-linked disease caused by loss of expression of the FMR1 (fragile X mental retardation 1) gene. ...In this review, we focus on recent insights into the functio …
Fragile X syndrome (FXS) - the leading cause of inherited mental retardation - is an X-linked disease caused by …
New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.
Le Tourneau T, Le Scouarnec S, Cueff C, Bernstein D, Aalberts JJJ, Lecointe S, Mérot J, Bernstein JA, Oomen T, Dina C, Karakachoff M, Desal H, Al Habash O, Delling FN, Capoulade R, Suurmeijer AJH, Milan D, Norris RA, Markwald R, Aikawa E, Slaugenhaupt SA, Jeunemaitre X, Hagège A, Roussel JC, Trochu JN, Levine RA, Kyndt F, Probst V, Le Marec H, Schott JJ. Le Tourneau T, et al. Eur Heart J. 2018 Apr 14;39(15):1269-1277. doi: 10.1093/eurheartj/ehx505. Eur Heart J. 2018. PMID: 29020406 Free PMC article.
We aimed to assess the phenotype of FLNA-MVD and its impact on prognosis. METHODS AND RESULTS: We investigated the disease in 246 subjects (72 mutated) from four FLNA-MVD families harbouring three different FLNA mutations. Phenotype was characterized by a comprehensive ech …
We aimed to assess the phenotype of FLNA-MVD and its impact on prognosis. METHODS AND RESULTS: We investigated the disease in 246 sub …
Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation.
Fink JK, Hedera P. Fink JK, et al. Semin Neurol. 1999;19(3):301-9. doi: 10.1055/s-2008-1040846. Semin Neurol. 1999. PMID: 12194386 Review.
To date, there are at least three genetic loci for X-linked HSP; at least three genetic loci for autosomal recessive HSP; and at least six genetic loci for autosomal dominant HSP. ...Mutation in this gene also causes the dysmyelinating disorder, Pelizeaus-Merzbacher …
To date, there are at least three genetic loci for X-linked HSP; at least three genetic loci for autosomal recessive HSP; and …
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