Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency

Ferdinandusse, Sacha, Denis, Simone, Hogenhout, Eveline M., Koster, Janet, van Roermund, Carlo W.T., IJlst, Lodewijk, Moser, Ann B., Wanders, Ronald J.A. +1 more·2007·Human Mutation
DOI 10.1002/humu.20535

Cited by (156)

Items 101–156 of 156

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  3. The Role of Changes in the Expression of Inflammation-Associated Genes in the Variants of Cerebral Small Vessel Disease
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  4. Peroxisomal Disorders in Children
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  5. ACOX1 gain‐of‐function variation in a 10‐years‐old patient responsive to immunomodulating therapy
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  6. Tandem mass spectrometry of serum cholestanoic (C27) acids – Typical concentration ranges and application to the study of peroxisomal biogenesis disorders
    Wujuan Zhang, Mónica Narváez-Rivas, Kenneth D.R. Setchell · 2024 · Journal of Mass Spectrometry and Advances in the Clinical Lab
  7. Developmental and Degenerative Cerebellar Pathologies in Peroxisomal β-Oxidation Deficiency
    Stephanie De Munter, Myriam I Baes · 2020 · Advances in experimental medicine and biology
  8. Pseudo-neonatal Adrenoleukodystrophy
    Cheshta Arora, Hansashree Padmanabha, Rita Christopher, Rohan Ramachandra Mahale, Maya Dattatrya Bhat, Gautham Arunachal, Ravi Shekhar, Pooja Mailankody, Pavagada Sivasankara Mathuranath · 2021 · Annals of Indian Academy of Neurology
  9. Peroxisomal Disorders
    Gerald V. Raymond, Paul A. Watkins, Steven J. Steinberg, J. Powers · 2009 · Springer eBooks
  10. Peroxisomal disorders with infantile seizures
    Jao‐Shwann Liang, Jyh‐Feng Lu · 2011 · Brain and Development
  11. Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders
    Ronald J. A. Wanders, Marc Engelen, Frédéric Maxime Vaz · 2022 · Springer eBooks
  12. Single Peroxisomal Enzyme and Transporter Deficiencies in Human Diseases and Mouse Models
    Markus Kunze, Johannes Berger · 2014 · Springer eBooks
  13. Peroxisomal Pathways, their Role in Neurodegenerative Disorders and Therapeutic Strategies
    Patrizia Risé, Rita Clara Paroni, A. Petroni · 2014 · Elsevier eBooks
  14. Flaxseed Reduces Cancer Risk by Altering Bioenergetic Pathways in Liver: Connecting SAM Biosynthesis to Cellular Energy
    William C. Weston, Karen H. Hales, Dale Buchanan Hales · 2023 · Metabolites
  15. Eyes See what the Mind Knows: Clues to Pattern Recognition in Single Enzyme Deficiency-Related Peroxisomal Disorders
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  16. Hepatic Acyl CoA Oxidase1 Inhibition Modifies Brain Lipids and Electrical Properties of Dentate Gyrus
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  17. Peroxisomal Disorders
    Bwee Tien Poll‐The, Ronald J. A. Wanders · 2014 · Springer eBooks
  18. Findings from the individualized management of a patient with Acyl-CoA Oxidase-1 (ACOX1) deficiency: A bedside-to-bench-to-bedside strategy
    Camille Moreau, Adrien Paquot, Gustavo Soto Ares, Anne‐Frédérique Dessein, Benoit P. Deprez, Terence B. Beghyn, Dries Dobbelaere · 2024 · Molecular Genetics and Metabolism
  19. Peroxisomal Disorders
    Ronald J. A. Wanders · 2013 · Elsevier eBooks
  20. Polyunsaturated fatty acid metabolism in the retinal pigment epithelium and its association with outer retinal disease
    Naga Pradeep Rayana, Navdeep Gogna, Mark P. Krebs, Gayle B. Collin, Jürgen Κ. Naggert, Patsy M. Nishina · 2026 · Mammalian Genome
  21. Diesel and biodiesels induce hepatic palmitoyl‐coa oxidase enzymatic activity through different molecular mechanisms in rats
    Guillaume Pelletier, Marc D. Rigden, Raymond W.M. Poon · 2012 · Journal of Biochemical and Molecular Toxicology
  22. Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders
    Ronald J. A. Wanders, Patrick R. Aubourg, Bwee Tien Poll‐The · 2016 · Springer eBooks
  23. Masitinib plus gemcitabine for personalized treatment of PDAC patients with overexpression of ACOX1
    Elżbieta Nowara, Joanna Huszno · 2016 · Expert Review of Precision Medicine and Drug Development
  24. A Floppy Infant with Facial Dysmorphism
    Praneeth Kumar, Gayatri Nerakh, Priyanka Katam, Tejo Pratap Oleti, Sunil V Pawar · 2021 · NeoReviews
  25. Peroxisomal Disorders
    Ronald J. A. Wanders, Femke C. C. Klouwer, Marc Engelen, Hans R. Waterham · 2022 · Springer eBooks
  26. Primary adrenal insufficiency caused by pseudo-neonatal adrenoleukodystrophy associated with biallelic ACOX1 mutations
    Didem Helvacıoğlu, Aylin Tugba Canbaz, Aysel Tekmenuray‐Unal, Yasin Ada, Özge Yapıcı, Emine Genc, Sebile Kılavuz, Büşra Gürpınar Tosun, Burcu Öztürk Hişmi, Tülay Güran · 2025 · European Journal of Endocrinology
  27. Enzymes, Metabolic Pathways, Flux Control Analysis, and the Enzymology of Specific Groups of Inherited Metabolic Diseases
    Ronald J. A. Wanders, Ben J. H. M. Poorthuis, Richard J. Rodenburg · 2009 · Springer eBooks
  28. Mechanisms of Toxicity in Fatty Acid Oxidation Disorders
    J. Daniel Sharer · 2009
  29. Peroxisomal Diseases
    Ronald J. A. Wanders · 2014 · Encyclopedia of the Neurological Sciences
  30. Activités cytotoxiques et pro-oxydantes d'acides gras à très longue chaîne sur des oligodendrocytes murins sauvages et déficients en Abcd1 et Acox1 : application à la physiopathologie de l'X-ALD et de la P-NALD
    Mauhamad Baarine · 2010 · theses.fr (ABES)
  31. Development of non-esterified fatty acid (NEFA) electrochemical biosensor for energy metabolism studies
    Anisah Tariq Hussain · 2014
  32. Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies
    Ronald J. A. Wanders · 2009
  33. Enzyme Diagnostics in a Changing World of Exome Sequencing and Newborn Screening as Exemplified for Peroxisomal, Mitochondrial, and Lysosomal Disorders
    Ronald J. A. Wanders, Ben J. H. M. Poorthuis, Richard J. Rodenburg · 2016 · Springer eBooks
  34. etabolisme mitochondrial et peroxysomal des acides gras et sur l'inammation
    Riad El Kebbaj · 2014
  35. Пероксисомні біогенні порушення в спектрі синдрому Цельвегера: діагностика, моніторинг і лікування відповідно до рекомендацій глобальної фундації пероксисомних захворювань
    М.О. Gonchar, Г.Р. Муратов, О.Л. Логвінова, Е М Пушкарь, Е П Помазуновская, Елена Владимировна Омельченко, Наталія Валеріївна Шульга, I.M. Galdinа, A.S. Zubko, Н В Стребуль · 2018 · CHILD`S HEALTH
  36. Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies
    Ronald J. A. Wanders, Hans R. Waterham · 2021
  37. La sindrome di Zellweger: un lavoro di squadra
    Ilaria Acquaviva, Elisabetta Cesaroni, Sabrina Siliquini, Francesco Sessa, Carla Marini · 2021 · Medico e Bambino - Pagine Elettroniche
  38. Peroxisomal Diseases ☆
    Ronald J. A. Wanders · 2017 · Elsevier eBooks
  39. Peroxisomal Disorders
    Ronald J. A. Wanders, Hans R. Waterham · 2021 · Elsevier eBooks
  40. Peroxisomal Acyl-Coa Oxidase Deficiency
    Georges Khattar, Saif Abu-Baker, Omar Mourad, Racha Abi Melhem, Abdallah El Bizri, Loai Dahabra, Ahmad Abou Yassine · 2023 · Springer eBooks
  41. Peroxisomal Biomarkers
    Frédéric Maxime Vaz, Ronald J. A. Wanders · 2024 · Springer eBooks
  42. The key role of gas chromatography-mass spectrometry and molecular genetic analysis methods in the diagnosis of peroxisomal disorders in children
    I.S. Mamedov, O. A. Perevesentsev, Alexey I. Krapivkin · 2024 · Laboratory Service
  43. Ocular Manifestations of Peroxisomal Disorders
    Lesley A Everett, Mark Edward Pennesi · 2025 · Oxford University Press eBooks
  44. ACOX1 gain-of-function post-mortem neuropathology is distinct from ACOX1 loss-of-function: case report and literature review
    Zita M L Hubler, Kaleigh F. Roberts, Nima Sharifai, Julia E. Sim, Sophia A Hung, Grace E Robvais, Alan Pestronk, Robert E. Schmidt, Sonika M Dahiya, Robert C. Bucelli · 2025 · Free Neuropathology
  45. Additional file 1 of A de novo heterozygous variant in ACOX1 gene cause Mitchell syndrome: the first case in China and literature review
    Mengxiao Shen, Qian Chen, Gao, Yanyan, Yan, Hongyu, Feng, Shuo, Ji, Xinna, Xue Zhang · 2023 · Figshare
  46. Meta-analyses of genome-wide association studies identify novel loci influencing Japanese white matter hyperintensities
    Yuya Asanomi, Risa Mitsumori, Akiko Yamakawa, Takashi Morizono, Daichi Shigemizu, Shumpei Niida, Takashi Sakurai, Kouichi Ozaki · 2026 · Journal of Human Genetics
  47. Peroxisome dysfunction alters metabolism of photoreceptor outer segments in human retinal pigment epithelium
    Constantin Mouzaaber, Carly B. Feldman, Suzette M Huguenin, John Y.S. Han, Erin Trombly, Qitao Zhang, Aja M. Rieger, Hamed Hojjat, Brandon C. Huynh, Ehsan Misaghi et al. · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
  48. Altérations mitochondriales et processus inflammatoire dans la déficience en acyl- Coenzyme A oxydase 1 peroxysomale
    Hammam I. El Hajj · 2012 · theses.fr (ABES)
  49. Base moléculaire des effets de l'huile d'argan sur le métabolisme mitochondrial et peroxysomal des acides gras et sur l'inflammation
    Riad El Kebbaj · 2012
  50. Inactivation génique des transporteurs ABC peroxysomaux ABCD1 et ABCD2 dans les cellules microgliales BV-2 : étude de la physiopathogenèse de l’adrénoleucodystrophie liée à l’X.
    Quentin Raas · 2018 · theses.fr (ABES)
  51. Metabolomic/Lipidomic investigations in equine atypical myopathy and in vitro screening of non-pharmaceutical compounds
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  52. Étude des propriétés antioxydante et anti-inflammatoire de l’huile d’argan dans la dérégulation du métabolisme peroxysomal
    Soukaina Essadek · 2023 · theses.fr (ABES)
  53. Peroxisomal Lipid Metabolism as a Therapeutic Target in Leukemia
    Ekaterina Parfenova, Spagnuolo Pj · 2026 · Molecular Nutrition & Food Research
  54. Effects of Different Monomeric Bile Acids in the Diet on the Growth and Lipid Metabolism of Juvenile Pacific White Shrimp
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  55. ACOX1 downregulation contributes to macrophage M1 polarization and neutrophilic airway inflammation in asthma
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  56. The impact of zeaxanthin and lycopene on fatty acid beta-oxidation in isolated peroxisomes from frozen livers of obese rats
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