Zobrazeno 1 - 10
of 254
pro vyhledávání: '"Infantile Refsum disease"'
Autor:
Mark Hsu, Amith Subhash
Publikováno v:
Case Reports in Gastroenterology, Vol 17, Iss 1, Pp 168-171 (2023)
Zellweger spectrum disorders (ZSDs) are known to present with variable hepatic manifestations ranging from benign hepatosplenomegaly and elevated liver enzymes to advanced liver cirrhosis with hepatocellular carcinoma. However, the progression of liv
Externí odkaz:
https://doaj.org/article/b003202650324d7db3f15f518f1b8e9a
Autor:
Ana-Maria Slanina, Adorata-Elena Coman, Dana-Teodora Anton-Păduraru, Elena Popa, Carmen-Liliana Barbacariu, Otilia Novac, Antoneta Dacia Petroaie, Agnes-Iacinta Bacușcă, Mihaela Manole, Adriana Cosmescu
Publikováno v:
Children, Vol 10, Iss 3, p 530 (2023)
The aim of this paper is to describe the temporal progression and clinical picture of a 2-year-old child with infantile Refsum disease, as well as the diagnostic procedures performed; this case presented multiple hematologic, metabolic, and developme
Externí odkaz:
https://doaj.org/article/3471cd996a434de19c2dc0b2db9de57e
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Zellweger spectrum disorder (ZSD) is a heterogeneous group of autosomal recessive disorders characterized by a defect in peroxisome formation and attributable to mutations in the PEX gene family. Patients with ZSD have profound neurologic impairments
Externí odkaz:
https://doaj.org/article/40084a5df719478fa910029daeb36395
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Publikováno v:
Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatrics, Vol 9 (2021)
Zellweger spectrum disorder (ZSD) is a heterogeneous group of autosomal recessive disorders characterized by a defect in peroxisome formation and attributable to mutations in the PEX gene family. Patients with ZSD have profound neurologic impairments
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b186a75d8dfa9c469a0774f60e00a1f0
http://europepmc.org/articles/PMC8424192
http://europepmc.org/articles/PMC8424192
Publikováno v:
Case Reports in Ophthalmological Medicine
Case Reports in Ophthalmological Medicine, Vol 2021 (2021)
Case Reports in Ophthalmological Medicine, Vol 2021 (2021)
Infantile Refsum disease is a rare peroxisomal biogenesis disorder characterized by impaired alpha-oxidation and accumulation of phytanic acid in the tissues. Patients often present with fundus changes resembling retinitis pigmentosa, developmental d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ca1b53cbb33c74efc4f19e3b043e64
http://europepmc.org/articles/PMC8520494
http://europepmc.org/articles/PMC8520494
Publikováno v:
Ultrastructural pathology. 44(1)
Background: Although the role of electron microscopy is diminishing in several areas of adult pathology, it remains an essential tool for the study of pediatric liver biopsies.Methods: Clinical charts, histologic slides and EM materials of native liv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59b901c384e08c7b1ca715abdb381308
https://pubmed.ncbi.nlm.nih.gov/31900039
https://pubmed.ncbi.nlm.nih.gov/31900039
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
Akademický článek
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