Results 21 to 30 of about 2,160,111 (122)

Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools [PDF]

Genetics in Medicine, 2019
Eva Vasiljevic, Zhan Ye, Burcu Darst
exaly   +2 more sources

Christoph Zellweger 1990 -1999 [PDF]

, 1999
The artists first personal catalog presented images of three main bodies of work made between 1990 and 1999. Introductory text: ROWE; Michael (1999); Interview: CASTRO-CALDAS; Manuel (1999).
Zellweger, Christoph
core   +6 more sources

Comparison of Caregiver-Reported Dietary Intake Methods in Zellweger Spectrum Disorder [PDF]

Nutrients
Mousumi Bose, Adrian Kerrihard
exaly   +2 more sources

Cochlear implantation and audiological findings in a child with Zellweger spectrum disorder

Otolaryngology Case Reports, 2023
Peroxisome Biogenesis Disorders in the Zellweger Spectrum (PBD-ZSD) are autosomal recessive disorders characterized by defects in functional peroxisomes.
Amit Walia, Amy Lynn Birath, Craig A. Buchman   +2 more
doaj   +1 more source

Cholbam® and Zellweger spectrum disorders: treatment implementation and management

Orphanet Journal of Rare Diseases, 2021
Background Zellweger spectrum disorders (ZSDs) are a rare, heterogenous group of autosomal recessively inherited disorders characterized by reduced peroxisomes numbers, impaired peroxisomal formation, and/or defective peroxisomal functioning.
Janaina Nogueira Anderson, Zineb Ammous, Yasemen Eroglu, Erick Hernandez, James Heubi, Ryan Himes, Sirish Palle   +6 more
doaj   +1 more source

Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect

Frontiers in Cell and Developmental Biology, 2021
Peroxisome biogenesis disorders within the Zellweger spectrum (PBD-ZSDs) are most frequently associated with the c.2528G>A (p.G843D) mutation in the PEX1 gene (PEX1-G843D), which results in impaired import of peroxisomal matrix proteins and ...
Femke C. C. Klouwer, Femke C. C. Klouwer, Kim D. Falkenberg, Rob Ofman, Janet Koster, Démi van Gent, Sacha Ferdinandusse, Ronald J. A. Wanders, Hans R. Waterham   +8 more
doaj   +1 more source

Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

Orphanet Journal of Rare Diseases, 2022
Background Pathogenic variants in PEX-genes can affect peroxisome assembly and function and cause Zellweger spectrum disorders (ZSDs), characterized by variable phenotypes in terms of disease severity, age of onset and clinical presentations.
Paola Borgia, Simona Baldassari, Nicoletta Pedemonte, Ebba Alkhunaizi, Gianluca D’Onofrio, Domenico Tortora, Elisa Calì, Paolo Scudieri, Ganna Balagura, Ilaria Musante, Maria Cristina Diana, Marina Pedemonte, Maria Stella Vari, Michele Iacomino, Antonella Riva, Roberto Chimenz, Giuseppe D. Mangano, Mohammad Hasan Mohammadi, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Ghayoor Karimiani, Andrea Accogli, Maria Cristina Schiaffino, Mohamad Maghnie, Miguel Angel Soler, Karl Echiverri, Charles K. Abrams, Pasquale Striano, Sara Fortuna, Reza Maroofian, Henry Houlden, Federico Zara, Chiara Fiorillo, Vincenzo Salpietro   +34 more
doaj   +1 more source

Facial motion perception in autism spectrum disorder and neurotypical controls [PDF]

, 2015
This thesis was submitted for the degree of Doctor of Philosophy and was awarded by Brunel University LondonFacial motion provides an abundance of information necessary for mediating social communication.
Girges, Christine
core   +7 more sources

LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders

Metabolites, 2021
Peroxisomes are central hubs for cell metabolism and their dysfunction is linked to devastating human disorders, such as peroxisomal biogenesis disorders and single peroxisomal enzyme/protein deficiencies.
Henry Gerd Klemp, Matthias Kettwig, Frank Streit, Jutta Gärtner, Hendrik Rosewich, Ralph Krätzner   +5 more
doaj   +1 more source

Gender ratio in a clinical population sample, age of diagnosis and duration of assessment in children and adults with autism spectrum disorder. [PDF]

, 2016
This article reports on gender ratio, age of diagnosis and the duration of assessment procedures in autism spectrum disorder diagnosis in a national study which included all types of clinical services for children and adults. Findings are reported from a
Rutherford, Marion, McKenzie, K., Johnson, T, McCartney, Deborah, Johnson, Tess, Catchpole, C., OHare, A., Forsyth, Kirsty, Murray, A., O'Hare, Anne, Johnson, T., Murray, A, Catchpole, Ciara, McClure, Iain, McClure, I, Murray, Aja Louise, McKenzie, K, McKenzie, Karen, Catchpole, C, McClure, I.   +19 more
core   +1 more source