Results 111 to 120 of about 2,160,111 (122)

Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype

Molecular Genetics and Metabolism, 2021
Gregory Enns, Ryan Himes, Sirish Palle   +2 more
exaly  

Infant Presenting With Developmental Regression and Infantile Spasms Diagnosed as Zellweger Spectrum Disorder

Journal of Neonatology, 2022
Umamaheswari Balakrishnan, Prakash Amboiram, Kusumita Chhabra   +2 more
exaly  

A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder

American Journal of Medical Genetics, Part A, 2023
Carolina I Galarreta, Christina G Tise
exaly  

Late-Onset Zellweger Spectrum Disorder Caused by PEX6 Mutations Mimicking X-Linked Adrenoleukodystrophy

Pediatric Neurology, 2014
Saadet Mercimek-Mahmutoglu, Christel Tran, Stacy Hewson   +2 more
exaly  

Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease)

Ultrastructural Pathology, 2018
Hiroyuki Shimada, Shoji Yano, Mikako Warren   +2 more
exaly  

Chinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia

Parkinsonism and Related Disorders, 2019
Xiang Lin, Wan-Jin Chen, Wang Ning
exaly  

Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder

Journal of Inherited Metabolic Disease, 2019
Marc Engelen, Bwee Tien Poll-The, Joanne Verheij   +2 more
exaly  

A longitudinal study of retinopathy in the PEX1-Gly844Asp mouse model for mild Zellweger Spectrum Disorder

Experimental Eye Research, 2019
Anna Polosa, Jean-François Bouchard, Catherine Argyriou   +2 more
exaly  

Eye movement abnormalities in a patient with Zellweger spectrum disorder

Neurological Sciences, 2016
Alessandra Rufa, Mario di Giovanni, F Rosini   +2 more
exaly  

Contrast Enhancement of Brainstem Tracts in Zellweger Spectrum Disorder: Evidence of Inflammatory Demyelination?

Neuropediatrics, 2011
exaly