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1981 1
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Page 1
History of gene therapy.
Wirth T, Parker N, Ylä-Herttuala S. Wirth T, et al. Gene. 2013 Aug 10;525(2):162-9. doi: 10.1016/j.gene.2013.03.137. Epub 2013 Apr 23. Gene. 2013. PMID: 23618815 Review.
Examples for these are the positive recommendation for a gene therapy product (Glybera) by the EMA for approval in the European Union and the positive trials for the treatment of ADA deficiency, SCID-X1 and adrenoleukodystrophy. Nevertheless, our knowledge continues to gro …
Examples for these are the positive recommendation for a gene therapy product (Glybera) by the EMA for approval in the European Union and th …
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. ...A subset of male patients, however, develops a fatal cerebral demyelinating disease, cerebral adrenoleukodystrophy. Female patients a …
X-linked adrenoleukodystrophy (X-ALD) is a puzzling inborn error of metabolism with a strikingly heterogeneous clinical spectrum. ... …
Gene therapy for neurological disorders: challenges and recent advancements.
Pena SA, Iyengar R, Eshraghi RS, Bencie N, Mittal J, Aljohani A, Mittal R, Eshraghi AA. Pena SA, et al. J Drug Target. 2020 Feb;28(2):111-128. doi: 10.1080/1061186X.2019.1630415. Epub 2019 Jul 11. J Drug Target. 2020. PMID: 31195838 Review.
These advanced techniques have profound applications in treating highly prevalent neurological diseases and neurodevelopmental disorders including Parkinson's disease, Alzheimer's disease and autism spectrum disorder, as well as rarer diseases such as amyotrophic lateral sclerosi …
These advanced techniques have profound applications in treating highly prevalent neurological diseases and neurodevelopmental disorders inc …
Adulthood leukodystrophies.
Köhler W, Curiel J, Vanderver A. Köhler W, et al. Nat Rev Neurol. 2018 Feb;14(2):94-105. doi: 10.1038/nrneurol.2017.175. Epub 2018 Jan 5. Nat Rev Neurol. 2018. PMID: 29302065 Review.
In addition, we provide detailed clinical information on selected adult-onset leukodystrophies, including X-linked adrenoleukodystrophy, metachromatic leukodystrophy, cerebrotendinous xanthomatosis, hereditary diffuse leukoencephalopathy with axonal spheroids, autosomal do …
In addition, we provide detailed clinical information on selected adult-onset leukodystrophies, including X-linked adrenoleukodystrophy
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. ...
Adrenoleukodystrophy (ALD) is a rare X-linked disease caused by a mutation of the peroxisomal ABCD1 gene. ...
Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy.
Gupta AO, Raymond G, Pierpont EI, Kemp S, McIvor RS, Rayannavar A, Miller B, Lund TC, Orchard PJ. Gupta AO, et al. Expert Opin Biol Ther. 2022 Sep;22(9):1151-1162. doi: 10.1080/14712598.2022.2124857. Epub 2022 Sep 19. Expert Opin Biol Ther. 2022. PMID: 36107226 Review.
INTRODUCTION: Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with an incidence of 1 in 14-17,000 male births, caused by pathogenic variants within the ABCD1 gene. ...A focused literature review was performed using the terms 'hematopoietic stem cell transpla …
INTRODUCTION: Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with an incidence of 1 in 14-17,000 male births, caused …
An update on the diagnosis and treatment of adrenoleukodystrophy.
Gujral J, Sethuram S. Gujral J, et al. Curr Opin Endocrinol Diabetes Obes. 2023 Feb 1;30(1):44-51. doi: 10.1097/MED.0000000000000782. Epub 2022 Nov 14. Curr Opin Endocrinol Diabetes Obes. 2023. PMID: 36373727 Review.
PURPOSE OF REVIEW: The present review summarizes recent advances in the diagnosis and management of patients with X-linked adrenoleukodystrophy (ALD). RECENT FINDINGS: Although ALD screening has been on the list of Recommended Uniform Screening Panel since 2016, only 30 st …
PURPOSE OF REVIEW: The present review summarizes recent advances in the diagnosis and management of patients with X-linked adrenoleukodys
The physiological functions of human peroxisomes.
Wanders RJA, Baes M, Ribeiro D, Ferdinandusse S, Waterham HR. Wanders RJA, et al. Physiol Rev. 2023 Jan 1;103(1):957-1024. doi: 10.1152/physrev.00051.2021. Epub 2022 Aug 11. Physiol Rev. 2023. PMID: 35951481 Free article. Review.
Among others these include the Zellweger spectrum disorders, X-linked adrenoleukodystrophy, and Refsum disease. To fulfill their role in metabolism, peroxisomes require continued interaction with other subcellular organelles including lipid droplets, lysosomes, the endopla …
Among others these include the Zellweger spectrum disorders, X-linked adrenoleukodystrophy, and Refsum disease. To fulfill their role …
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
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. ...
Adrenoleukodystrophy (ALD) is a rare X-linked disorder of peroxisomal oxidation due to mutations in ABCD1. ...
424 results