Results 91 to 100 of about 2,160,111 (122)

Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations. [PDF]

JIMD Rep, 2012
Mignarri A, Vinciguerra C, Giorgio A, Ferdinandusse S, Waterham H, Wanders R, Bertini E, Dotti MT, Federico A.   +8 more
europepmc   +1 more source

Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities. [PDF]

Stem Cell Res Ther, 2015
Wang XM, Yik WY, Zhang P, Lu W, Huang N, Kim BR, Shibata D, Zitting M, Chow RH, Moser AB, Steinberg SJ, Hacia JG.   +11 more
europepmc   +1 more source

A brief history of the human liver peroxisome. [PDF]

Histochem Cell Biol
De Craemer D, Van den Branden C, Roels F.   +2 more
europepmc   +1 more source

Lipid ciliology: specialized ciliary membrane lipids in physiology and disease. [PDF]

Front Cell Dev Biol
Hasan A, Morita T, Hirosawa M, Kitamura N, Murakami R, Mikuni M, Kobayashi D, Itabashi T, Miyamoto T.   +8 more
europepmc   +1 more source

Unraveling PEX6: insights into very-long-chain fatty acid levels and peroxisome biogenesis disorders in pediatric populations. [PDF]

Ann Pediatr Endocrinol Metab
Ahangari N, Shirvan BB, Ashrafzadeh F, Karimiani EG, Hashemi N, Imannezhad S, Kalat HL, Ebrahimzadeh F, Akhondian J, Toosi MB.   +9 more
europepmc   +1 more source

Heimler Syndrome Caused by Novel <i>PEX6</i> Variants: Clinical and Genetic Characterization in a Saudi Cohort. [PDF]

Genes (Basel)
AlMoallem B.
europepmc   +1 more source

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

Appl Clin Genet
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
europepmc   +1 more source

Ocular Clues to Liver Disease: A Strategic Diagnostic Lens. [PDF]

Diseases
Dahshan M, Dahshan H, Basoglu A, Kadikoy H.   +3 more
europepmc   +1 more source

Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study. [PDF]

BMC Med Genomics
Khalilian S, Fathi M, Jamshidi S, Madannejad R, Sayad A, Ghafouri-Fard S, Miryounesi M.   +6 more
europepmc   +1 more source