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Zellweger Syndrome: A Case Report [PDF]

Journal of Nepal Medical Association
Zellweger syndrome is an autosomal recessive disease within the spectrum of peroxisome biogenesis disorder manifesting in the neonatal period with profound dysfunction of the central nervous system, liver and kidney.
Prajwala Yogi, Chunauti Bahik, Rahul Yadav, Puja Bhattarai, Rakshya Pandey, Sunil Raja Manandar   +5 more
doaj   +4 more sources

Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients [PDF]

Orphanet Journal of Rare Diseases, 2023
Background The peroxisome is a ubiquitous single membrane-enclosed organelle with an important metabolic role. Peroxisomal disorders represent a class of medical conditions caused by deficiencies in peroxisome function and are segmented into enzyme-and ...
Zhixing Zhu, Georgi Z. Genchev, Yanmin Wang, Wei Ji, Xiaofen Zhang, Hui Lu, Sira Sriswasdi, Guoli Tian   +7 more
doaj   +2 more sources

Uncombable hair in a case of Zellweger syndrome – A new association [PDF]

Indian Dermatology Online Journal, 2023
Zellweger syndrome (ZS) is a rare autosomal recessive, peroxisomal biogenesis disorder (PBD) that occurs due to a mutation in any of the thirteen peroxin (PEX) genes.
Yatham Jahnavi, R G Sharada, Afthab Jameela Wahab   +2 more
doaj   +2 more sources

Prenatal diagnosis of zellweger syndrome by fetal MRI: a case report [PDF]

Radiology Case Reports, 2021
Zellweger Syndrome (ZS) is a rare peroxisomal disorder also referred to as cerebrohepatorenal syndrome. ZS is an autosomal recessive disease often manifesting in the neonatal period with profound dysfunction of the central nervous system, liver and ...
Joana Diaz, MD, MPH, Larry Matsumoto, MD, Jennifer Kucera Neville, MD, MS   +2 more
doaj   +2 more sources

Safety and tolerance of the ketogenic diet in patients with Zellweger Syndrome [PDF]

Epilepsy & Behavior Reports
Zellweger Syndrome is a peroxisomal disorder that can lead to elevation of long chain fatty acids and epilepsy, which can be drug resistant. The treatment of drug resistant epilepsy can include the ketogenic diet in appropriately chosen patients ...
Borst Stephanie, Ciliberto Michael, Thati Ganganna Sreenath   +2 more
doaj   +2 more sources

Overwhelming sepsis in a neonate affected by Zellweger syndrome due to a compound heterozygosis in PEX 6 gene: a case report [PDF]

BMC Medical Genetics, 2020
Background Peroxisome biogenesis disorders (PBDs) are a group of metabolic diseases caused by dysfunction of peroxisomes. Different forms of PBDs are described; the most severe one is the Zellweger syndrome (ZS).
Laura Lucaccioni, Beatrice Righi, Greta Miriam Cingolani, Licia Lugli, Elisa Della Casa, Francesco Torcetta, Lorenzo Iughetti, Alberto Berardi   +7 more
doaj   +2 more sources

Novel mutation causing Zellweger syndrome. [PDF]

BMJ Case Rep, 2023
Genetic conditions have varied presentations, and one of them is the association with multiple malformation syndrome (MMS), which has a high mortality rate in the immediate postnatal period. Here, we describe a neonate born with multiple anomalies—wide anterior and posterior fontanelle, metopic suture, flat nasal bridge, hypertelorism, low set ...
Adiyapatham S, Murugesan A.
europepmc   +3 more sources

Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family [PDF]

The Application of Clinical Genetics
Ingrid Tatyana Bernal-Bonilla,1 Juan Sebastian Arias-Florez,1 Sandra Ximena Ramirez,2 Bibiana Alejandra Bayona-Gomez,3 Lina Castro-Castillo,3 Valeria Correa-Martinez,4 Yasmín Sanchez-Gomez,5 Natalia Santiago-Tovar,6 Cristian Camilo Gaviria-Sabogal,6 Nora
Bernal-Bonilla IT, Arias-Florez JS, Ramirez SX, Bayona-Gomez BA, Castro-Castillo L, Correa-Martinez V, Sanchez-Gomez Y, Santiago-Tovar N, Gaviria-Sabogal CC, Contreras Bravo NC, Cabrera R, Morel A, Fonseca-Mendoza DJ, Restrepo CM   +13 more
doaj   +2 more sources

The Nitric Oxide Donor, S-Nitrosoglutathione, Rescues Peroxisome Number and Activity Defects in PEX1G843D Mild Zellweger Syndrome Fibroblasts [PDF]

Frontiers in Cell and Developmental Biology, 2021
Peroxisome biogenesis disorders (PBDs) are a group of metabolic developmental diseases caused by mutations in one or more genes encoding peroxisomal proteins.
Yidi Liu, Ceileigh M. Weaver, Yarina Sen, Gary Eitzen, Andrew J. Simmonds, Lilliana Linchieh, Olivier Lurette, Etienne Hebert-Chatelain, Richard A. Rachubinski, Francesca Di Cara   +9 more
doaj   +2 more sources

Child neurology: Zellweger syndrome. [PDF]

Neurology, 2013
Zellweger syndrome (ZS) is a severe manifestation of disease within the spectrum of peroxisome biogenesis disorders that includes neonatal adrenoleukodystrophy, infantile Refsum disease, and rhizomelic chondroplasia punctata. Patients with ZS present in the neonatal period with a characteristic phenotype of distinctive facial stigmata, pronounced ...
Lee PR, Raymond GV.
europepmc   +4 more sources