Výsledky vyhledávání - "Acyl-CoA Oxidase/deficiency"

A microglial cell model for acyl-CoA oxidase 1 deficiency

Autor: Mustapha Cherkaoui-Malki, Michel Jadot, Stéphane Savary, Quentin Raas, Yannick Hamon, Catherine Gondcaille, Valerio Leoni, Claudio Caccia, Franck Ménétrier, Doriane Trompier, Boubker Nasser, Gérard Lizard, Pierre Andreoletti, Fatima-Ezzahra Saih

Publikováno v: Biochimica Et Biophysica Acta-Molecular and Cell Biology of Lipids
Biochimica Et Biophysica Acta-Molecular and Cell Biology of Lipids, 2019, 1864 (4), pp.567-576. ⟨10.1016/j.bbalip.2018.10.005⟩
Biochimica et Biophysica Acta Molecular and Cell Biology of Lipids
Biochimica et Biophysica Acta Molecular and Cell Biology of Lipids, Elsevier, 2019, 1864 (4), pp.567-576. ⟨10.1016/j.bbalip.2018.10.005⟩
Biochimica et Biophysica Acta Molecular and Cell Biology of Lipids, 2019, 1864 (4), pp.567-576. ⟨10.1016/j.bbalip.2018.10.005⟩

Acyl-CoA oxidase 1 (ACOX1) deficiency is a rare and severe peroxisomal leukodystrophy associated with a very long-chain fatty acid (VLCFA) β–oxidation defect. This neurodegenerative disease lacks relevant cell models to further decipher the pathom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de6f3ecebeab89d9110a18d1ae1e300d
https://hal.archives-ouvertes.fr/hal-02359450

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Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines

Autor: Melissa P. Wasserstein, Gerald V. Raymond, David Kronn, Darius J. Adams, Joan E. Pellegrino, Richard W. Erbe, Chin-To Fong, A. Iglesias, Mark A. Morrissey, Beth Vogel, P. Parton, Joseph J. Orsini, Natasha Shur, S. E. Bradley, Michele Caggana, P. Levy, Carlos A. Saavedra-Matiz, Kristin D'Aco

Publikováno v: Molecular Genetics and Metabolism. 114:599-603

Purpose To describe a diagnostic protocol, surveillance and treatment guidelines, genetic counseling considerations and long-term follow-up data elements developed in preparation for X-linked adrenoleukodystrophy (X-ALD) newborn screening in New York

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ed6412d24f5d7b5d10ac44a8858eb39
https://doi.org/10.1016/j.ymgme.2015.02.002

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Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders

Autor: Bwee Tien Poll-The, Jutta Gärtner

Publikováno v: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 1822(9):1421-1429

Peroxisomal disorders are an important group of neurometabolic diseases. The clinical presentation is varied in terms of age of onset severity, and different neurological symptoms. The clinical course spans from death in infancy, rapid functional dec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::089eacc270ca9a220adc445cf4997eb5
https://doi.org/10.1016/j.bbadis.2012.03.011

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Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy

Autor: Mary D. King, M. A. Kurian, Stephanie Ryan, Ron J. A. Wanders, G. T. N. Besley

Publikováno v: Journal of inherited metabolic disease, 27(1), 105-108. Springer Netherlands

We report a rare case of straight-chain acyl-CoA oxidase deficiency (McKusick 264470) presenting with dysmorphism, neurodevelopmental regression and leukodystrophy.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29e12b1ddd660d819c229653a0f17a1f
https://pure.amc.nl/en/publications/straightchain-acylcoa-oxidase-deficiency-presenting-with-dysmorphia-neurodevelopmental-autistictype-regression-and-a-selective-pattern-of-leukodystrophy(d2bbefcc-2160-45fc-96c5-4f42c81e119e).html

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Peroxisomal acyl CoA oxidase deficiency

Autor: Mizue Iai, Shoichi Chida, Yuzo Tanabe, Zhongyi Zhang, Naomi Kondo, Yasuyuki Suzuki, Atsushi Kamei, Nobuyuki Shimozawa, Yasuhiko Takemoto, Seiji Yamaguchi

Publikováno v: The Journal of pediatrics. 140(1)

Three Japanese patients with peroxisomal acyl coenzyme A oxidase deficiency who manifested psychomotor retardation and regression during the late infantile period showed characteristic patterns of demyelination in the ponto- medullary corticospinal t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cdc8b6e8706bb19b7a3080293876999
https://pubmed.ncbi.nlm.nih.gov/11815777

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