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805 results

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Page 1
[Peroxisomal disorders].
Stradomska TJ. Stradomska TJ. Postepy Biochem. 2018 Dec 29;64(4):359-367. doi: 10.18388/pb.2018_150. Postepy Biochem. 2018. PMID: 30656921 Free article. Review. Polish.
The disturbance of the peroxisome structure due to mutations in different PEX and non-PEX genes coding functional peroxisomal proteins is the pathogenic basis of the peroxisomal disorders. ...Peroxisomal disorders present a broad spectrum of clinical symptoms from the neon …
The disturbance of the peroxisome structure due to mutations in different PEX and non-PEX genes coding functional peroxisomal protein …
Peroxisomal leukodystrophy.
Engelen M. Engelen M. Handb Clin Neurol. 2024;204:139-145. doi: 10.1016/B978-0-323-99209-1.00021-1. Handb Clin Neurol. 2024. PMID: 39322376 Review.
Peroxisomal disorders associated with leukodystrophy are discussed in more detail, specifically X-linked adrenoleukodystrophy, Zellweger spectrum disorders, D-bifunctional protein deficiency, Acyl-CoA oxidase 1 deficiency, and Alpha-Methylacyl-CoA Racemase (AMACR) d …
Peroxisomal disorders associated with leukodystrophy are discussed in more detail, specifically X-linked adrenoleukodystrophy, …
Rett syndrome: a neurological disorder with metabolic components.
Kyle SM, Vashi N, Justice MJ. Kyle SM, et al. Open Biol. 2018 Feb;8(2):170216. doi: 10.1098/rsob.170216. Open Biol. 2018. PMID: 29445033 Free PMC article. Review.
Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator. ...
Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2), …
Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.
Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C. Vilvarajan S, et al. Genes (Basel). 2023 Aug 11;14(8):1607. doi: 10.3390/genes14081607. Genes (Basel). 2023. PMID: 37628658 Free PMC article. Review.
We aim to improve awareness and understanding of Rett syndrome amongst pediatricians, pediatric subspecialists and allied health professionals to enable early diagnosis and a streamlined enrolment approach for future clinical trials. Rett syndrome, a complex X-linked …
We aim to improve awareness and understanding of Rett syndrome amongst pediatricians, pediatric subspecialists and allied health professiona …
X-linked adrenoleukodystrophy: pathogenesis and treatment.
Engelen M, Kemp S, Poll-The BT. Engelen M, et al. Curr Neurol Neurosci Rep. 2014 Oct;14(10):486. doi: 10.1007/s11910-014-0486-0. Curr Neurol Neurosci Rep. 2014. PMID: 25115486 Review.
X-linked adrenoleukodystrophy (X-ALD) is a puzzling inborn error of metabolism with a strikingly heterogeneous clinical spectrum. ...
X-linked adrenoleukodystrophy (X-ALD) is a puzzling inborn error of metabolism with a strikingly heterogeneous clinical spectr …
X-chromosome inactivation: implications in human disease.
Pereira G, Dória S. Pereira G, et al. J Genet. 2021;100:63. J Genet. 2021. PMID: 34553695 Free article. Review.
In this mini review, we discuss the known mechanisms associated with XCI, when and how does it initiate, spreads and maintain, as well as the mechanisms that allow some genes to escape from it. We address the skewed XCI, condition in which the process are not fully randomi …
In this mini review, we discuss the known mechanisms associated with XCI, when and how does it initiate, spreads and maintain, as well as th …
X-Linked Epilepsies: A Narrative Review.
Bernardo P, Cuccurullo C, Rubino M, De Vita G, Terrone G, Bilo L, Coppola A. Bernardo P, et al. Int J Mol Sci. 2024 Apr 8;25(7):4110. doi: 10.3390/ijms25074110. Int J Mol Sci. 2024. PMID: 38612920 Free PMC article. Review.
X-linked epilepsies are a heterogeneous group of epileptic conditions, which often overlap with X-linked intellectual disability. To date, various X-linked genes responsible for epilepsy syndromes and/or developmental …
X-linked epilepsies are a heterogeneous group of epileptic conditions, which often overlap with X-linked inte …
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM. Pearson TS, et al. Mov Disord. 2019 May;34(5):625-636. doi: 10.1002/mds.27655. Epub 2019 Mar 26. Mov Disord. 2019. PMID: 30913345 Review.
The Changing Face of Adrenoleukodystrophy.
Zhu J, Eichler F, Biffi A, Duncan CN, Williams DA, Majzoub JA. Zhu J, et al. Endocr Rev. 2020 Aug 1;41(4):577-93. doi: 10.1210/endrev/bnaa013. Endocr Rev. 2020. PMID: 32364223 Free PMC article. Review.
Adrenoleukodystrophy (ALD) is a rare X-linked disorder of peroxisomal oxidation due to mutations in ABCD1. It is a progressive condition with a variable clinical spectrum that includes primary adrenal insufficiency, myelopathy, and cerebral ALD. ...Cerebral ALD affe …
Adrenoleukodystrophy (ALD) is a rare X-linked disorder of peroxisomal oxidation due to mutations in ABCD1. It is a progressive …
X-linked mental retardation.
Neri G, Chiurazzi P. Neri G, et al. Adv Genet. 1999;41:55-94. doi: 10.1016/s0065-2660(08)60151-0. Adv Genet. 1999. PMID: 10494617 Review. No abstract available.
805 results