Zobrazeno 1 - 10
of 358
pro vyhledávání: '"Neonatal adrenoleukodystrophy"'
Autor:
James E. Heubi, Warren P. Bishop
Publikováno v:
Case Reports in Gastroenterology, Vol 12, Iss 3, Pp 661-670 (2018)
Zellweger spectrum disorders (ZSDs) are a subgroup of peroxisomal biogenesis disorders with a generalized defect in peroxisome function. Liver disease in ZSDs has been associated with the lack of peroxisomal β-oxidation of C27-bile acid intermediate
Externí odkaz:
https://doaj.org/article/c13b0a77434d49bebbd2d6d80b0b8d38
Autor:
Mazen Al-Essa, Gursev S. Dhaunsi
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 32:733-738
Background Neonatal adrenoleukodystrophy (n-ALD) and X-linked ALD (X-ALD) patients present with demyelination, poor growth and progressive mental retardation. Growth factors are known to play a vital role in the development of children. Objective To
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36c5e2a76db2868f889dd1d5769e52e6
https://doi.org/10.1515/jpem-2018-0540
https://doi.org/10.1515/jpem-2018-0540
Autor:
Rohan Mahale, Maya Bhat, Ravi Shekhar, Cheshta Arora, Pavagada S. Mathuranath, Pooja Mailankody, Gautham Arunachal, Hansashree Padmanabha, Rita Christopher
Publikováno v:
Annals of Indian Academy of Neurology. 25:275
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b738ced42b519f97fda9b7c4544e02df
https://doi.org/10.4103/aian.aian_486_21
https://doi.org/10.4103/aian.aian_486_21
Publikováno v:
Ultrastructural Pathology. 42:220-227
Zellweger spectrum disorders (ZSD) are rare autosomal recessive inherited metabolic disorders and include severe (Zellweger syndrome) and milder phenotypes [neonatal adrenoleukodystrophy and infantile Refsum disease (IRD)]. ZSD are characterized by i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::746ea077a53d0f3df9579878d75135c5
https://doi.org/10.1080/01913123.2018.1440272
https://doi.org/10.1080/01913123.2018.1440272
Kniha
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Susan Walker, Whiwon Lee, Hernan Gonorazky, Gregory Costain, Susan Blaser, Christian R. Marshall, Michal Inbar-Feigenberg
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100664-(2020)
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100664-(2020)
Defects in PEX3 are associated with a severe neonatal-lethal form of Zellweger spectrum disorder. We report two moderately affected siblings whose clinical and biochemical phenotypes expand the reported spectrum of PEX3-related disease. Genome sequen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eff868b408cbe50a6e8fe8fed340763
https://doi.org/10.1016/j.ymgmr.2020.100664
https://doi.org/10.1016/j.ymgmr.2020.100664
Publikováno v:
Translational Science of Rare Diseases
Peroxisome biogenesis disorders (PBD) are a group of conditions caused by a partial or generalized defect in peroxisome biogenesis. They encompass two phenotypic groups: 1. the Zellweger spectrum disorders (ZSD) including severe, intermediate and mil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e23d7937a80bdb189b92ebb962155aac
http://europepmc.org/articles/PMC5678237
http://europepmc.org/articles/PMC5678237
Autor:
Najmabadi H, Ahangari F, Tabarestani S, P. Karimzadeh, Farokhashtiani T, Ahmadabadi F, Fadaee M
Publikováno v:
Research in Pediatrics & Neonatology. 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f18ae337b9523b66ec7ad5acfff8dee1
https://doi.org/10.31031/rpn.2018.01.000524
https://doi.org/10.31031/rpn.2018.01.000524
Autor:
Phyllis L. Faust, Nancy Braverman, Gerald V. Raymond, Ann B. Moser, Joseph G. Hacia, Amanda M. Lauer, Jean Bennett, Paul A. Watkins, Donald J. Zack, Shandi Hiebler, Nivedita Chowdhury, Anita Liu, Tomohiro Masuda, Steven J. Steinberg, Ning Huang
Publikováno v:
Molecular Genetics and Metabolism. 111:522-532
Zellweger spectrum disorder (ZSD) is a disease continuum that results from inherited defects in PEX genes essential for normal peroxisome assembly. These autosomal recessive disorders impact brain development and also cause postnatal liver, adrenal,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff63ec4a06d421b7018855f714246f35
https://doi.org/10.1016/j.ymgme.2014.01.008
https://doi.org/10.1016/j.ymgme.2014.01.008
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.