Cochlear implantation and audiological findings in a child with Zellweger spectrum disorder by Amit Walia, Amy Lynn Birath, Craig A. Buchman

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

Subjects: “…peroxisome biogenesis disorder…”
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Saudi patient with peroxisome biogenesis disorder with novel variant: a case report by Ahmed Awad AbuAlreesh, Rayah Mohamed Asiri, Abeer Awad AbuAlreesh, Zuhair Rahbeeni

Subjects: “…peroxisome biogenesis disorder…”
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LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders by Henry Gerd Klemp, Matthias Kettwig, Frank Streit, Jutta Gärtner, Hendrik Rosewich, Ralph Krätzner

Subjects: “…peroxisome biogenesis disorder…”
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Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review by Whiwon Lee, Gregory Costain, Susan Blaser, Susan Walker, Christian R. Marshall, Hernan Gonorazky, Michal Inbar-Feigenberg

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Stop Codon Context-Specific Induction of Translational Readthrough by Mirco Schilff, Yelena Sargsyan, Julia Hofhuis, Sven Thoms

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<i>PEX6</i> Mutation in a Child with Infantile Refsum Disease—A Case Report and Literature Review by 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

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Cholbam® and Zellweger spectrum disorders: treatment implementation and management by Janaina Nogueira Anderson, Zineb Ammous, Yasemen Eroglu, Erick Hernandez, James Heubi, Ryan Himes, Sirish Palle

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Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing by Yuan Tian, Linlin Zhang, Ying Li, Jinshuang Gao, Haiyang Yu, Yaqing Guo, Liting Jia

Subjects: “…peroxisome biogenesis disorder 14B…”
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Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers by Mousumi Bose, David D. Cuthbertson, Marsha A. Fraser, Jean-Baptiste Roullet, K. Michael Gibson, Dana R. Schules, Kelly M. Gawron, Melissa B. Gamble, Kathryn M. Sacra, Melisa J. Lopez, William B. Rizzo

Subjects: “…Peroxisome biogenesis disorder…”
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Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review by Mousumi Bose, Christine Yergeau, Yasmin D’Souza, David D. Cuthbertson, Melisa J. Lopez, Alyssa K. Smolen, Nancy E. Braverman

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Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios[S] by Katharina Herzog, Mia L. Pras-Raves, Martin A.T. Vervaart, Angela C.M. Luyf, Antoine H.C. van Kampen, Ronald J.A. Wanders, Hans R. Waterham, Frédéric M. Vaz

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AAV-mediated PEX1 gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder by Catherine Argyriou, Anna Polosa, Ji Yun Song, Samy Omri, Bradford Steele, Bruno Cécyre, Devin S. McDougald, Erminia Di Pietro, Jean-François Bouchard, Jean Bennett, Joseph G. Hacia, Pierre Lachapelle, Nancy E. Braverman

Subjects: “…peroxisome biogenesis disorder…”
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High Dose Versus Low Dose Syngeneic Hepatocyte Transplantation in <i>Pex1</i>-G844D NMRI Mouse Model is Safe but Does Not Achieve Long Term Engraftment by Tanguy Demaret, Jonathan Evraerts, Joachim Ravau, Martin Roumain, Giulio G. Muccioli, Mustapha Najimi, Etienne M. Sokal

Subjects: “…peroxisome biogenesis disorder…”
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A founder mutation in the <it>PEX6</it> gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population by Levesque Sebastien, Morin Charles, Guay Simon-Pierre, Villeneuve Josee, Marquis Pascale, Yik Wing, Jiralerspong Sarn, Bouchard Luigi, Steinberg Steven, Hacia Joseph G, Dewar Ken, Braverman Nancy E

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

Subjects: “…Peroxisome biogenesis disorders…”
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Peroxisomal Dysfunction in Neurological Diseases and Brain Aging by Ndidi-Ese Uzor, Ndidi-Ese Uzor, Louise D. McCullough, Louise D. McCullough, Louise D. McCullough, Andrey S. Tsvetkov, Andrey S. Tsvetkov, Andrey S. Tsvetkov

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Overwhelming sepsis in a neonate affected by Zellweger syndrome due to a compound heterozygosis in PEX 6 gene: a case report by Laura Lucaccioni, Beatrice Righi, Greta Miriam Cingolani, Licia Lugli, Elisa Della Casa, Francesco Torcetta, Lorenzo Iughetti, Alberto Berardi

Subjects: “…Peroxisome biogenesis disorders…”
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PEX6 Mutations in Peroxisomal Biogenesis Disorders by Matthew D. Benson, MD, Kimberly M. Papp, BSc, Geoffrey A. Casey, BSc(EE), BSc(MolBiol), Alina Radziwon, BSc, Chris D. St Laurent, BSc, Lance P. Doucette, PhD, Ian M. MacDonald, MD, CM

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Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns by Patricia L. Hall, Hong Li, Arthur F. Hagar, S. Caleb Jerris, Angela Wittenauer, William Wilcox

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