{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T15:39:16Z","timestamp":1782142756477,"version":"3.54.5"},"reference-count":150,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2022,6,10]],"date-time":"2022-06-10T00:00:00Z","timestamp":1654819200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Travere Therapeutics Inc."}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Zellweger spectrum disorder (ZSD) is a rare, debilitating genetic disorder of peroxisome biogenesis that affects multiple organ systems and presents with broad clinical heterogeneity. Although severe, intermediate, and mild forms of ZSD have been described, these designations are often arbitrary, presenting difficulty in understanding individual prognosis and treatment effectiveness. The purpose of this study is to conduct a scoping review and meta-analysis of existing literature and a medical chart review to determine if characterization of clinical findings can predict severity in ZSD. Our PubMed search for articles describing severity, clinical findings, and survival in ZSD resulted in 107 studies (representing 307 patients) that were included in the review and meta-analysis. We also collected and analyzed these same parameters from medical records of 136 ZSD individuals from our natural history study. Common clinical findings that were significantly different across severity categories included seizures, hypotonia, reduced mobility, feeding difficulties, renal cysts, adrenal insufficiency, hearing and vision loss, and a shortened lifespan. Our primary data analysis also revealed significant differences across severity categories in failure to thrive, gastroesophageal reflux, bone fractures, global developmental delay, verbal communication difficulties, and cardiac abnormalities. Univariable multinomial logistic modeling analysis of clinical findings and very long chain fatty acid (VLCFA) hexacosanoic acid (C26:0) levels showed that the number of clinical findings present among seizures, abnormal EEG, renal cysts, and cardiac abnormalities, as well as plasma C26:0 fatty acid levels could differentiate severity categories. We report the largest characterization of clinical findings in relation to overall disease severity in ZSD. This information will be useful in determining appropriate outcomes for specific subjects in clinical trials for ZSD.<\/jats:p>","DOI":"10.3390\/cells11121891","type":"journal-article","created":{"date-parts":[[2022,6,10]],"date-time":"2022-06-10T10:25:12Z","timestamp":1654856712000},"page":"1891","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0913-7738","authenticated-orcid":false,"given":"Mousumi","family":"Bose","sequence":"first","affiliation":[{"name":"Department of Nutrition and Food Studies, College of Education and Human Services, Montclair State University, Montclair, NJ 07043, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3013-0765","authenticated-orcid":false,"given":"Christine","family":"Yergeau","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, McGill University, Montreal, QC H4A 3J1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8195-7407","authenticated-orcid":false,"given":"Yasmin","family":"D\u2019Souza","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, McGill University, Montreal, QC H4A 3J1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3785-9834","authenticated-orcid":false,"given":"David D.","family":"Cuthbertson","sequence":"additional","affiliation":[{"name":"Health Informatics Institute, College of Medicine, University of South Florida, 3650 Spectrum Blvd., Tampa, FL 33612, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melisa J.","family":"Lopez","sequence":"additional","affiliation":[{"name":"Department of Nutrition and Food Studies, College of Education and Human Services, Montclair State University, Montclair, NJ 07043, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alyssa K.","family":"Smolen","sequence":"additional","affiliation":[{"name":"Department of Nutrition and Food Studies, College of Education and Human Services, Montclair State University, Montclair, NJ 07043, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1621-5164","authenticated-orcid":false,"given":"Nancy E.","family":"Braverman","sequence":"additional","affiliation":[{"name":"Departments of Human Genetics and Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,6,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1146\/annurev.biochem.74.082803.133329","article-title":"Biochemistry of Mammalian Peroxisomes Revisited","volume":"75","author":"Wanders","year":"2006","journal-title":"Annu. Rev. Biochem."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1733","DOI":"10.1016\/j.bbamcr.2006.09.010","article-title":"Peroxisome Biogenesis Disorders","volume":"1763","author":"Steinberg","year":"2006","journal-title":"Biochim. Biophys. Acta (BBA)-Mol. Cell Res."},{"key":"ref_3","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J., Gripp, K.W., Mirzaa, G.M., and Amemiya, A. (1993). Rhizomelic Chondrodysplasia Punctata Type 1. GeneReviews\u00ae, University of Washington."},{"key":"ref_4","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J., Gripp, K.W., Mirzaa, G.M., and Amemiya, A. (1993). Zellweger Spectrum Disorder. GeneReviews\u00ae, University of Washington."},{"key":"ref_5","unstructured":"Scriver, C.R. (2001). The Metabolic & Molecular Bases of Inherited Disease, McGraw-Hill. [8th ed.]."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1111\/j.1754-4505.2012.00248.x","article-title":"Medical-Dental Findings and Management of a Child with Infantile Refsum Disease: A Case Report: Infantile Refsum Disease-Dental Management","volume":"32","author":"Acharya","year":"2012","journal-title":"Spec. Care Dent."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"332","DOI":"10.4103\/sja.SJA_699_17","article-title":"Renal Oxalate Stones in Children with Zellweger Spectrum Disorders","volume":"12","author":"Alhazmi","year":"2018","journal-title":"Saudi J. Anaesth."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1002\/(SICI)1096-8628(20000117)90:2<110::AID-AJMG4>3.0.CO;2-#","article-title":"Infantile Refsum Disease in Four Amish Sibs","volume":"90","author":"Bader","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1186\/s13023-014-0133-5","article-title":"High Prevalence of Primary Adrenal Insufficiency in Zellweger Spectrum Disorders","volume":"9","author":"Berendse","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"100694","DOI":"10.1016\/j.ymgmr.2020.100694","article-title":"Zellweger Spectrum Disorder: A Cross-Sectional Study of Symptom Prevalence Using Input from Family Caregivers","volume":"25","author":"Bose","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_11","first-page":"2082","article-title":"Infantile Refsum Disease: Case Report","volume":"24","author":"Choksi","year":"2003","journal-title":"Am. J. Neuroradiol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1002\/humu.20062","article-title":"Identification of the Molecular Defect in Patients with Peroxisomal Mosaicism Using a Novel Method Involving Culturing of Cells at 40 \u00b0C: Implications for Other Inborn Errors of Metabolism","volume":"24","author":"Gootjes","year":"2004","journal-title":"Hum. Mutat."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1111\/scd.12003","article-title":"Oral Manifestations and Dental Management of a Child with Zellweger Syndrome","volume":"34","author":"Lertsirivorakul","year":"2014","journal-title":"Spec. Care Dent."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1016\/j.pedneo.2016.08.011","article-title":"Biochemical and Clinical Profiles of 52 Tunisian Patients Affected by Zellweger Syndrome","volume":"58","author":"Nasrallah","year":"2017","journal-title":"Pediatrics Neonatol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.ejmg.2005.07.003","article-title":"Sensorineural Deafness, Enamel Abnormalities and Nail Abnormalities: A Case Report of Heimler Syndrome in Identical Twin Girls","volume":"49","author":"Ong","year":"2006","journal-title":"Eur. J. Med. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1002\/ajmg.a.20664","article-title":"Peroxisome Biogenesis Disorders with Prolonged Survival: Phenotypic Expression in a Cohort of 31 Patients","volume":"126A","author":"Gootjes","year":"2004","journal-title":"Am. J. Med. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.ymgme.2015.11.009","article-title":"Low Bone Mineral Density Is a Common Feature of Zellweger Spectrum Disorders","volume":"117","author":"Rush","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/BF01958955","article-title":"Clinical Recognition of Patients Affected by a Peroxisomal Disorder: A Retrospective Study in 40 Patients","volume":"151","author":"Theil","year":"1992","journal-title":"Eur. J. Pediatrics"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1016\/j.ymgme.2006.03.004","article-title":"High Incidence of Hyperoxaluria in Generalized Peroxisomal Disorders","volume":"88","author":"Groothoff","year":"2006","journal-title":"Mol. Genet. Metab."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/s10545-017-0113-8","article-title":"Coagulopathy in Zellweger Spectrum Disorders: A Role for Vitamin K","volume":"41","author":"Zeynelabidin","year":"2018","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.ymgme.2015.12.009","article-title":"Peroxisome Biogenesis Disorders in the Zellweger Spectrum: An Overview of Current Diagnosis, Clinical Manifestations, and Treatment Guidelines","volume":"117","author":"Braverman","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1086\/321265","article-title":"Disorders of Peroxisome Biogenesis due to Mutations in PEX1: Phenotypes and PEX1 Protein Levels","volume":"69","author":"Walter","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"e58","DOI":"10.1136\/jmg.2005.033324","article-title":"Genetic and Clinical Aspects of Zellweger Spectrum Patients with PEX1 Mutations","volume":"42","author":"Rosewich","year":"2005","journal-title":"J. Med. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1203\/00006450-200206000-00008","article-title":"PEX1 Mutations in Complementation Group 1 of Zellweger Spectrum Patients Correlate with Severity of Disease","volume":"51","author":"Preuss","year":"2002","journal-title":"Pediatric Res."},{"key":"ref_25","first-page":"54","article-title":"Peroxisomes and Peroxisomal Disorders","volume":"25","author":"Zellweger","year":"1988","journal-title":"Ala. J. Med. Sci."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/j.ejmg.2016.09.004","article-title":"Severe Early Onset Retinitis Pigmentosa in a Moroccan Patient with Heimler Syndrome due to Novel Homozygous Mutation of PEX1 Gene","volume":"59","author":"Ratbi","year":"2016","journal-title":"Eur. J. Med. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1007\/s10545-017-0064-0","article-title":"Evaluation of C26:0-Lysophosphatidylcholine and C26:0-Carnitine as Diagnostic Markers for Zellweger Spectrum Disorders","volume":"40","author":"Klouwer","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1002\/ajmg.1320230404","article-title":"Neonatal Adrenoleukodystrophy: New Cases, Biochemical Studies, and Differentiation from Zellweger and Related Peroxisomal Polydystrophy Syndromes","volume":"23","author":"Kelley","year":"1986","journal-title":"Am. J. Med. Genet."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<502::AID-AJMG14>3.0.CO;2-T","article-title":"Peroxisomal Disorders: Clinical and Biochemical Studies in 15 Children and Prenatal Diagnosis in 7 Families","volume":"85","author":"Steinberg","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"100459","DOI":"10.1016\/j.ymgmr.2019.100459","article-title":"Emotional Experience in Parents of Children with Zellweger Spectrum Disorders: A Qualitative Study","volume":"19","author":"Bose","year":"2019","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1007\/s10545-005-0593-9","article-title":"Orthotopic Liver Transplantation from a Living-Related Donor in an Infant with a Peroxisome Biogenesis Defect of the Infantile Refsum Disease Type","volume":"28","author":"Maldergem","year":"2005","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"e20153102","DOI":"10.1542\/peds.2015-3102","article-title":"Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease","volume":"137","author":"Matsunami","year":"2016","journal-title":"Pediatrics"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1097\/MPG.0000000000001657","article-title":"Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders","volume":"65","author":"Heubi","year":"2017","journal-title":"J. Pediatric Gastroenterol. Nutr."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1097\/MPG.0000000000002618","article-title":"Open-Label Phase 3 Continuation Study of Cholic Acid in Patients With Inborn Errors of Bile Acid Synthesis","volume":"70","author":"Heubi","year":"2020","journal-title":"J. Pediatric Gastroenterol. Nutr."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1002\/jimd.12042","article-title":"The Cholic Acid Extension Study in Zellweger Spectrum Disorders: Results and Implications for Therapy","volume":"42","author":"Klouwer","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"376s","DOI":"10.1093\/ajcn\/71.1.376S","article-title":"Therapeutic Effects of Docosahexaenoic Acid Ethyl Ester in Patients with Generalized Peroxisomal Disorders","volume":"71","author":"Manzanares","year":"2000","journal-title":"Am. J. Clin. Nutr."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"2277","DOI":"10.1167\/iovs.09-4020","article-title":"Visual Follow-Up in Peroxisomal-Disorder Patients Treated with Docosahexaenoic Acid Ethyl Ester","volume":"51","author":"Noguer","year":"2010","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1212\/WNL.0b013e3181f07061","article-title":"Docosahexaenoic Acid Therapy in Peroxisomal Diseases: Results of a Double-Blind, Randomized Trial","volume":"75","author":"Paker","year":"2010","journal-title":"Neurology"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1746","DOI":"10.1212\/01.WNL.0000036609.14203.70","article-title":"Biochemical Markers Predicting Survival in Peroxisome Biogenesis Disorders","volume":"59","author":"Gootjes","year":"2002","journal-title":"Neurology"},{"key":"ref_40","doi-asserted-by":"crossref","unstructured":"Stradomska, T.J., Syczewska, M., Jamroz, E., Pleskaczy\u0144ska, A., Kruczek, P., Ciara, E., and Tylki-Szymanska, A. (2020). Serum Very Long-Chain Fatty Acids (VLCFA) Levels as Predictive Biomarkers of Diseases Severity and Probability of Survival in Peroxisomal Disorders. PLoS ONE, 15.","DOI":"10.1371\/journal.pone.0238796"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1002\/1531-8249(199901)45:1<100::AID-ART16>3.0.CO;2-U","article-title":"Plasma Very Long Chain Fatty Acids in 3000 Peroxisome Disease Patients and 29,000 Controls","volume":"45","author":"Moser","year":"1999","journal-title":"Ann. Neurol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1007\/s10545-015-9880-2","article-title":"Zellweger Spectrum Disorders: Clinical Manifestations in Patients Surviving into Adulthood","volume":"39","author":"Berendse","year":"2016","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1111\/cge.13130","article-title":"Development and Validation of a Severity Scoring System for Zellweger Spectrum Disorders","volume":"93","author":"Klouwer","year":"2018","journal-title":"Clin. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1097\/AUD.0000000000001126","article-title":"A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum","volume":"43","author":"Lee","year":"2022","journal-title":"Ear Hear."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1097\/XEB.0000000000000050","article-title":"Guidance for Conducting Systematic Scoping Reviews","volume":"13","author":"Peters","year":"2015","journal-title":"Int. J. Evid.-Based Healthc."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1186\/s13023-015-0368-9","article-title":"Zellweger Spectrum Disorders: Clinical Overview and Management Approach","volume":"10","author":"Klouwer","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1007\/BF00710055","article-title":"Komrower Lecture. Adrenoleukodystrophy: Natural History, Treatment and Outcome","volume":"18","author":"Moser","year":"1995","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1136\/jnnp.63.1.4","article-title":"X Linked Adrenoleukodystrophy: Clinical Presentation, Diagnosis, and Therapy","volume":"63","author":"Assies","year":"1997","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1186\/1750-1172-7-51","article-title":"X-Linked Adrenoleukodystrophy (X-ALD): Clinical Presentation and Guidelines for Diagnosis, Follow-up and Management","volume":"7","author":"Engelen","year":"2012","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_50","first-page":"354","article-title":"Using a Synthesis Matrix to Plan a Literature Review","volume":"88","author":"Clark","year":"2017","journal-title":"Radiol. Technol."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1203\/00006450-198907000-00019","article-title":"Genetic and Phenotypic Heterogeneity in Disorders of Peroxisome Biogenesis\u2014A Complementation Study Involving Cell Lines from 19 Patients","volume":"26","author":"Roscher","year":"1989","journal-title":"Pediatric Res."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1177\/000992289903800203","article-title":"Zellweger Syndrome in Saudi Arabia and Its Distinct Features","volume":"38","author":"Dhaunsi","year":"1999","journal-title":"Clin. Pediatrics"},{"key":"ref_53","first-page":"1163","article-title":"MR of Zellweger Syndrome","volume":"18","author":"Barkovich","year":"1997","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/BF00441495","article-title":"Cerebro-Hepato-Renal Syndrome of Zellweger: Clinical Symptoms and Relevant Laboratory Findings in 16 Patients","volume":"139","author":"Govaerts","year":"1982","journal-title":"Eur. J. Pediatrics"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1055\/s-2008-1059534","article-title":"A Neurophysiological Study of Children with the Cerebro-Hepato-Renal Syndrome of Zellweger","volume":"16","author":"Govaerts","year":"1985","journal-title":"Neuropediatrics"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1016\/S0022-3476(05)83538-3","article-title":"Peroxisomal Disorders in Children: Immunohistochemistry and Neuropathology","volume":"122","author":"Kamel","year":"1993","journal-title":"J. Pediatrics"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1007\/BF00688256","article-title":"Neuronal Lipidosis and Neuroaxonal Dystrophy in Cerebro-Hepato-Renal (Zellweger) Syndrome","volume":"73","author":"Powers","year":"1987","journal-title":"Acta Neuropathol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1111\/j.1528-1157.1997.tb01095.x","article-title":"Epilepsy in Peroxisomal Diseases","volume":"38","author":"Takahashi","year":"1997","journal-title":"Epilepsia"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/0887-8994(86)90004-4","article-title":"Myopathy in an Infant with a Fatal Peroxisomal Disorder","volume":"2","author":"Wolff","year":"1986","journal-title":"Pediatric Neurol."},{"key":"ref_60","first-page":"524","article-title":"Multiple Peroxisomal Enzymatic Deficiency Disorders. A Comparative Biochemical and Morphologic Study of Zellweger Cerebrohepatorenal Syndrome and Neonatal Adrenoleukodystrophy","volume":"125","author":"Vamecq","year":"1986","journal-title":"Am. J. Pathol."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1016\/S0161-6420(87)33345-7","article-title":"Ocular Pathologic Findings in Neonatal Adrenoleukodystrophy","volume":"94","author":"Glasgow","year":"1987","journal-title":"Ophthalmology"},{"key":"ref_62","first-page":"100","article-title":"Neonatal Adrenoleukodystrophy: Clinical, Pathologic, and Biochemical Delineation of a Syndrome Affecting Both Males and Females","volume":"108","author":"Jaffe","year":"1982","journal-title":"Am. J. Pathol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1799","DOI":"10.1111\/jog.12379","article-title":"Fetal Echogenic Bowel in Association with Zellweger Syndrome: Fetal Echogenic Bowel in ZS","volume":"40","author":"Aydemir","year":"2014","journal-title":"J. Obstet. Gynaecol. Res."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.pediatrneurol.2019.01.013","article-title":"Chondrodysplasia Punctata: A Clue to the Zellweger Spectrum Disorders","volume":"95","author":"Bamford","year":"2019","journal-title":"Pediatric Neurol."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1007\/BF00493539","article-title":"The Zellweger Syndrome: Subcellular Pathology, Neuropathology, and the Demonstration of Pneumocystis Carinii Pneumonitis in Two Siblings","volume":"127","author":"Brun","year":"1978","journal-title":"Eur. J. Pediatrics"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1007\/s10545-009-9010-0","article-title":"Zellweger Syndrome with Unusual Findings: Non-Immune Hydrops Fetalis, Dermal Erythropoiesis and Hypoplastic Toe Nails","volume":"32","author":"Dursun","year":"2009","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1136\/bjo.66.7.422","article-title":"Tapetoretinal Degeneration in the Cerebro-Hepato-Renal (Zellweger\u2019s) Syndrome","volume":"66","author":"Garner","year":"1982","journal-title":"Br. J. Ophthalmol."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1055\/s-2001-12218","article-title":"Proton Magnetic Resonance Spectroscopy (1H-MRS) of the Cerebrum in Two Young Infants with Zellweger Syndrome","volume":"32","author":"Groenendaal","year":"2001","journal-title":"Neuropediatrics"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1001\/archopht.1976.03910040633011","article-title":"Friendly Cerebro-Hepato-Renal Syndrome of Zellweger: Ocular Histopathologic Findings","volume":"94","author":"Haddad","year":"1976","journal-title":"Arch. Ophthalmol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1515\/jpem-2019-0194","article-title":"Two Different Missense Mutations of PEX Genes in Two Similar Patients with Severe Zellweger Syndrome: An Argument on the Genotype-Phenotype Correlation","volume":"33","author":"Havali","year":"2020","journal-title":"J. Pediatric Endocrinol. Metab."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1007\/s11033-015-3885-7","article-title":"A Novel Mutation in the PEX12 Gene Causing a Peroxisomal Biogenesis Disorder","volume":"42","author":"Chandoga","year":"2015","journal-title":"Mol. Biol. Rep."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1515\/jpem-2013-0184","article-title":"Zellweger Syndrome: Prenatal and Postnatal Growth Failure with Epiphyseal Stippling","volume":"27","author":"Kumar","year":"2014","journal-title":"J. Pediatric Endocrinol. Metab."},{"key":"ref_73","first-page":"53","article-title":"Zellweger Syndrome: Report of One Case","volume":"42","author":"Lee","year":"2001","journal-title":"Acta Paediatr. Taiwan"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1111\/j.1699-0463.1993.tb00104.x","article-title":"Postmortem Findings and Prenatal Diagnosis of Zellweger Syndrome","volume":"101","author":"Lindhard","year":"1993","journal-title":"APMIS"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"169","DOI":"10.7863\/jum.1988.7.3.169","article-title":"Sonography of the Zellweger Syndrome","volume":"7","author":"Luisiri","year":"1988","journal-title":"J. Ultrasound Med."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"2318","DOI":"10.1002\/ajmg.a.33560","article-title":"A Mutation in PEX19 Causes a Severe Clinical Phenotype in a Patient with Peroxisomal Biogenesis Disorder","volume":"152A","author":"Mohamed","year":"2010","journal-title":"Am. J. Med. Genet."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1177\/0883073811435918","article-title":"Zellweger Syndrome and Associated Brain Malformations: Report of a Novel Peroxin1 (PEX1) Mutation in a Native American Infant","volume":"27","author":"Mohebbi","year":"2012","journal-title":"J. Child Neurol."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1086\/303071","article-title":"Defective Peroxisome Membrane Synthesis due To Mutations in Human PEX3 Causes Zellweger Syndrome, Complementation Group G","volume":"67","author":"Muntau","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/BF00210677","article-title":"Gene Assignment of Zellweger Syndrome to 7q11.23: Report of the Second Case Associated with a Pericentric Inversion of Chromosome 7","volume":"84","author":"Naritomi","year":"1989","journal-title":"Hum. Genet."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1177\/155005940103200108","article-title":"A Case of Zellweger Syndrome with Extensive MRI Abnormalities and Unusual EEG Findings","volume":"32","author":"Panjan","year":"2001","journal-title":"Clin. Electroencephalogr."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1177\/1971400917700670","article-title":"Zellweger Syndrome: Depiction of MRI Findings in Early Infancy at 3.0 Tesla","volume":"30","author":"Pfeifer","year":"2017","journal-title":"Neuroradiol. J."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1007\/s00381-018-3791-0","article-title":"Brain MRI in a Newborn with Zellweger Syndrome: ADC Quantitation in White Matter Disease","volume":"34","author":"Carvalho","year":"2018","journal-title":"Childs Nerv. Syst."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1086\/339766","article-title":"A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents","volume":"70","author":"Wanders","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/j.jpeds.2017.09.064","article-title":"Stippled Chondral Calcifications of the Patella in Zellweger Syndrome","volume":"192","author":"Rife","year":"2018","journal-title":"J. Pediatrics"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1002\/hep.1840150206","article-title":"Oral Bile Acid Treatment and the Patient with Zellweger Syndrome","volume":"15","author":"Setchell","year":"1992","journal-title":"Hepatology"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1007\/s10545-016-9922-4","article-title":"The Important Role of Biochemical and Functional Studies in the Diagnostics of Peroxisomal Disorders","volume":"39","author":"Ferdinandusse","year":"2016","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1016\/0887-8994(95)00215-4","article-title":"MRI Findings of Zellweger Syndrome","volume":"13","author":"Nakai","year":"1995","journal-title":"Pediatric Neurol."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.clinimag.2018.01.008","article-title":"Scimitar-like Ossification of Patellae Led to Diagnosis of Zellweger Syndrome in Newborn: A Case Report","volume":"49","author":"Smitthimedhin","year":"2018","journal-title":"Clin. Imaging"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1002\/pd.805","article-title":"First-Trimester Increased Nuchal Translucency as a Prenatal Sign of Zellweger Syndrome","volume":"24","author":"Strenge","year":"2004","journal-title":"Prenat. Diagn."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/S0387-7604(12)80022-2","article-title":"Cortical Cytoarchitectural and Immunohistochemical Studies on Zellweger Syndrome","volume":"13","author":"Takashima","year":"1991","journal-title":"Brain Dev."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1177\/0883073810365545","article-title":"Germinal Matrix Hemorrhage in Zellweger Syndrome","volume":"25","author":"Takenouchi","year":"2010","journal-title":"J. Child Neurol."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1016\/j.braindev.2007.02.005","article-title":"Early Dietary Treatments with Lorenzo\u2019s Oil and Docosahexaenoic Acid for Neurological Development in a Case with Zellweger Syndrome","volume":"29","author":"Tanaka","year":"2007","journal-title":"Brain Dev."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1002\/ajmg.1320240109","article-title":"Zellweger Syndrome: Diagnostic Assays, Syndrome Delineation, and Potential Therapy","volume":"24","author":"Wilson","year":"1986","journal-title":"Am. J. Med. Genet."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1097\/00019605-200507000-00014","article-title":"Caudothalamic Groove Cysts in Zellweger Syndrome","volume":"14","author":"Kendirli","year":"2005","journal-title":"Clin. Dysmorphol."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/BF02889859","article-title":"Mitochondrial Myopathy with Loosely Coupled Oxidative Phosphorylation in a Case of Zellweger Syndrome: A Cytochemical-Ultrastructural Study","volume":"45","author":"Walther","year":"1984","journal-title":"Virchows Arch. B Cell Pathol."},{"key":"ref_96","first-page":"227","article-title":"Oral Bile Acid Treatment in Two Japanese Patients With Zellweger Syndrome","volume":"35","author":"Maeda","year":"2002","journal-title":"J. Pediatric Gastroenterol. Nutr."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1023\/A:1022549618333","article-title":"Plasma and Red Blood Cell Fatty Acids in Peroxisomal Disorders","volume":"24","author":"Moser","year":"1999","journal-title":"Neurochem. Res."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1136\/jnnp.49.1.77","article-title":"Neonatal Adrenoleukodystrophy","volume":"49","author":"Aubourg","year":"1986","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/S0022-3476(86)80765-X","article-title":"Dysmorphic Syndrome with Phytanic Acid Oxidase Deficiency, Abnormal Very Long Chain Fatty Acids, and Pipecolic Acidemia: Studies in Four Children","volume":"108","author":"Budden","year":"1986","journal-title":"J. Pediatrics"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"1274","DOI":"10.1038\/gim.2017.262","article-title":"A Metabolomic Map of Zellweger Spectrum Disorders Reveals Novel Disease Biomarkers","volume":"20","author":"Wangler","year":"2018","journal-title":"Genet. Med."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/0002-9394(83)90336-7","article-title":"Ocular Histopathologic Studies of Neonatal and Childhood Adrenoleukodystrophy","volume":"95","author":"Cohen","year":"1983","journal-title":"Am. J. Ophthalmol."},{"key":"ref_102","first-page":"344","article-title":"Cerebro-Hepato-Renal (Zellweger) Syndrome and Neonatal Adrenoleukodystrophy: Similarities in Phenotype and Accumulation of Very Long Chain Fatty Acids","volume":"151","author":"Brown","year":"1982","journal-title":"Johns Hopkins Med. J."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.pediatrneurol.2007.10.004","article-title":"Neonatal Adrenoleukodystrophy Presenting With Seizure at Birth: A Case Report and Review of the Literature","volume":"38","author":"Chang","year":"2008","journal-title":"Pediatric Neurol."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"1389","DOI":"10.1212\/WNL.43.7.1389","article-title":"Docosahexaenoic Acid\u2013A New Therapeutic Approach to Peroxisomal-disorder Patients: Experience with Two Cases","volume":"43","author":"Martinez","year":"1993","journal-title":"Neurology"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1007\/BF00687380","article-title":"A Pathological Study of a Peripheral Nerve in a Case of Neonatal Adrenoleukodystrophy","volume":"77","author":"Mito","year":"1989","journal-title":"Acta Neuropathol."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1016\/0887-8994(93)90034-A","article-title":"Neonatal Adrenoleukodystrophy Presenting as Infantile Progressive Spinal Muscular Atrophy","volume":"9","author":"Paul","year":"1993","journal-title":"Pediatric Neurol."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/0013-4694(85)90943-5","article-title":"Electrophysiologic Studies in Neonatal Adrenoleukodystrophy","volume":"60","author":"Verma","year":"1985","journal-title":"Electroencephalogr. Clin. Neurophysiol."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1136\/jmg.2007.056697","article-title":"Identification of a Novel PEX14 Mutation in Zellweger Syndrome","volume":"45","author":"Huybrechts","year":"2008","journal-title":"J. Med. Genet."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1111\/ped.12713","article-title":"First Japanese Case of Zellweger Syndrome with a Mutation in PEX14: First Japanese Case of PEX14 Deficiency","volume":"57","author":"Komatsuzaki","year":"2015","journal-title":"Pediatrics Int."},{"key":"ref_110","first-page":"e207","article-title":"Child Neurology: Zellweger Syndrome","volume":"80","author":"Lee","year":"2013","journal-title":"Neurology"},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"bcr2015214283","DOI":"10.1136\/bcr-2015-214283","article-title":"Zellweger Syndrome with Severe Malnutrition, Immunocompromised State and Opportunistic Infections","volume":"2016","author":"Cardoso","year":"2016","journal-title":"BMJ Case Rep."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1177\/088307389901400705","article-title":"Diagnosis and Follow-Up of a Case of Peroxisomal Disorder with Peroxisomal Mosaicism","volume":"14","author":"Pineda","year":"1999","journal-title":"J. Child Neurol."},{"key":"ref_113","first-page":"96","article-title":"Zellweger Syndrome, Retinal Involvement","volume":"12","author":"Evrard","year":"1989","journal-title":"Metab. Pediatric Syst. Ophthalmol."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1055\/s-0031-1275729","article-title":"Contrast Enhancement of Brainstem Tracts in Zellweger Spectrum Disorder: Evidence of Inflammatory Demyelination?","volume":"42","author":"Kulkarni","year":"2011","journal-title":"Neuropediatrics"},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1007\/BF01800020","article-title":"Plasma Lipoproteins and Monocyte-Macrophages in a Peroxisome-Deficient System: Study of a Patient with Infantile Refsum Disease","volume":"15","author":"Mandel","year":"1992","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_116","first-page":"294","article-title":"Conventional and Advanced MR Imaging in Infantile Refsum Disease","volume":"57","author":"Wanders","year":"2015","journal-title":"Turk. J. Pediatrics"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1016\/j.ajhg.2017.11.007","article-title":"Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder","volume":"101","author":"Falkenberg","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1136\/jmg.2009.074302","article-title":"Identification of an Unusual Variant Peroxisome Biogenesis Disorder Caused by Mutations in the PEX16 Gene","volume":"47","author":"Ebberink","year":"2010","journal-title":"J. Med. Genet."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"1565","DOI":"10.1038\/ejhg.2016.62","article-title":"Spectrum of PEX1 and PEX6 Variants in Heimler Syndrome","volume":"24","author":"Smith","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"1552","DOI":"10.1007\/s00415-016-8167-3","article-title":"Expanding the Spectrum of PEX10-Related Peroxisomal Biogenesis Disorders: Slowly Progressive Recessive Ataxia","volume":"263","author":"Renaud","year":"2016","journal-title":"J. Neurol."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/j.ymgme.2017.06.004","article-title":"Biochemical and Genetic Characterization of an Unusual Mild PEX3- Related Zellweger Spectrum Disorder","volume":"121","author":"Ferdinandusse","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"100615","DOI":"10.1016\/j.ymgmr.2020.100615","article-title":"Mild Form of Zellweger Spectrum Disorders (ZSD) due to Variants in PEX1: Detailed Clinical Investigation in a 9-Years-Old Female","volume":"24","author":"Barillari","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1007\/BF00441774","article-title":"A Milder Variant of Zellweger Syndrome","volume":"144","author":"Barth","year":"1985","journal-title":"Eur. J. Pediatrics"},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1111\/j.1399-0004.1986.tb01242.x","article-title":"Long Term Survival of a Patient with the Cerebro-Hepato-Renal (Zellweger) Syndrome","volume":"29","year":"1986","journal-title":"Clin. Genet."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1186\/s13256-017-1365-5","article-title":"Identification of a Novel Mutation in PEX10 in a Patient with Attenuated Zellweger Spectrum Disorder: A Case Report","volume":"11","author":"Blomqvist","year":"2017","journal-title":"J. Med. Case Rep."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1007\/s00247-004-1332-3","article-title":"Infantile Refsum Disease: Serial Evaluation with MRI","volume":"35","author":"Cakirer","year":"2005","journal-title":"Pediatric Radiol."},{"key":"ref_127","first-page":"1159","article-title":"MR Findings in Infantile Refsum Disease: Case Report of Two Family Members","volume":"12","author":"Dubois","year":"1991","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1111\/pan.12113","article-title":"Propofol Infusion Syndrome or Adrenoleukodystrophy?","volume":"23","author":"Karaman","year":"2013","journal-title":"Paediatric Anaesth."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"97","DOI":"10.3109\/13816810.2010.551797","article-title":"Macular Dystrophy in Heimler Syndrome","volume":"32","author":"Lima","year":"2011","journal-title":"Ophthalmic Genet."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1007\/s13353-019-00523-w","article-title":"Mild Zellweger Syndrome due to Functionally Confirmed Novel PEX1 Variants","volume":"61","author":"Rydzanicz","year":"2020","journal-title":"J. Appl. Genet."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1136\/jmedgenet-2011-100288","article-title":"A New Ocular Phenotype Associated with an Unexpected but Known Systemic Disorder and Mutation: Novel Use of Genomic Diagnostics and Exome Sequencing","volume":"48","author":"Majewski","year":"2011","journal-title":"J. Med. Genet."},{"key":"ref_132","first-page":"283","article-title":"Infantile Refsum\u2019s Disease: A Peroxisomal Storage Disorder?","volume":"21","author":"Manson","year":"1985","journal-title":"Clin. Exp. Neurol."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1007\/8904_2016_10","article-title":"Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder","volume":"Volume 34","author":"Morava","year":"2016","journal-title":"JIMD Reports"},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.pediatrneurol.2004.01.013","article-title":"PEX1 Deficiency Presenting as Leber Congenital Amaurosis","volume":"31","author":"Michelakakis","year":"2004","journal-title":"Pediatric Neurol."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1080\/13816810.2018.1430241","article-title":"Novel Retinal Findings in Peroxisomal Biogenesis Disorders","volume":"39","author":"Kozel","year":"2018","journal-title":"Ophthalmic Genet."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1097\/ICB.0000000000000004","article-title":"Infantile Refsum disease in a young adult: Case presentation and brief review","volume":"8","author":"Maberley","year":"2014","journal-title":"Retinal Cases Brief Rep."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1002\/ana.22035","article-title":"Mutations in PEX10 Are a Cause of Autosomal Recessive Ataxia","volume":"68","author":"Ebberink","year":"2010","journal-title":"Ann. Neurol."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1007\/s13353-017-0414-5","article-title":"Mild Zellweger Syndrome due to a Novel PEX6 Mutation: Correlation between Clinical Phenotype and in Silico Prediction of Variant Pathogenicity","volume":"58","author":"Rydzanicz","year":"2017","journal-title":"J. Appl. Genet."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/s10545-008-0969-8","article-title":"A PEX10 Defect in a Patient with No Detectable Defect in Peroxisome Assembly or Metabolism in Cultured Fibroblasts","volume":"32","author":"Steinberg","year":"2009","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1016\/j.ijporl.2015.05.023","article-title":"Audiological Findings in Infantile Refsum Disease","volume":"79","author":"Vandana","year":"2015","journal-title":"Int. J. Pediatric Otorhinolaryngol."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.ymgmr.2016.10.006","article-title":"Diagnosis of a Mild Peroxisomal Phenotype with Next-Generation Sequencing","volume":"9","author":"Ventura","year":"2016","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1080\/13816810.2018.1432063","article-title":"Ophthalmic Manifestations of Heimler Syndrome due to PEX6 Mutations","volume":"39","author":"Wangtiraumnuay","year":"2018","journal-title":"Ophthalmic Genet."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1080\/01913123.2018.1440272","article-title":"Histologic and Ultrastructural Features in Early and Advanced Phases of Zellweger Spectrum Disorder (Infantile Refsum Disease)","volume":"42","author":"Warren","year":"2018","journal-title":"Ultrastruct. Pathol."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1007\/s10038-007-0157-y","article-title":"A Novel PEX12 Mutation Identified as the Cause of a Peroxisomal Biogenesis Disorder with Mild Clinical Phenotype, Mild Biochemical Abnormalities in Fibroblasts and a Mosaic Catalase Immunofluorescence Pattern, Even at 40 \u00b0C","volume":"52","author":"Zeharia","year":"2007","journal-title":"J. Hum. Genet."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.clineuro.2019.01.004","article-title":"Ataxia with Novel Compound Heterozygous PEX10 Mutations and a Literature Review of PEX10-Related Peroxisome Biogenesis Disorders","volume":"177","author":"Zhang","year":"2019","journal-title":"Clin. Neurol. Neurosurg."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1002\/j.1536-4801.1995.tb11496.x","article-title":"Infantile Refsum Disease: Neonatal Cholestatic Jaundice Presentation of a Peroxisomal Disorder","volume":"20","author":"Goez","year":"1995","journal-title":"J. Pediatric Gastroenterol. Nutr."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1210\/clinem\/dgaa881","article-title":"Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort","volume":"106","author":"Capalbo","year":"2021","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1385\/JMN:16:2-3:309","article-title":"Restoring the DHA Levels in the Brains of Zellweger Patients","volume":"16","author":"Martinez","year":"2001","journal-title":"J. Mol. Neurosci."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1186\/s13023-021-01940-z","article-title":"Cholbam\u00ae and Zellweger Spectrum Disorders: Treatment Implementation and Management","volume":"16","author":"Anderson","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_150","first-page":"199","article-title":"Guidelines to the Writing of Case Studies","volume":"52","author":"Budgell","year":"2008","journal-title":"J. Can. Chiropr. Assoc."}],"container-title":["Cells"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4409\/11\/12\/1891\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T23:27:47Z","timestamp":1760138867000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4409\/11\/12\/1891"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,10]]},"references-count":150,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2022,6]]}},"alternative-id":["cells11121891"],"URL":"https:\/\/doi.org\/10.3390\/cells11121891","relation":{},"ISSN":["2073-4409"],"issn-type":[{"value":"2073-4409","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,10]]}}}