Scholarly Articles

Nutrition

• Bose: “Comparison of Caregiver-Reported Dietary Intake Methods in Zellweger Spectrum Disorder“

Bone and Dental Issues

• Acharya: “Medical-dental findings and management of a child with Infantile Refsum Disease”

• Rush: “Low bone mineral density is a common feature of Zellweger spectrum disorders“

• Tran: “Infantile Refsum Disease with Enamel Defects”

Hearing

• Mellon: “Should all deaf children learn sign language?“

• Walia: “Cochlear implantation and audiological findings in a child with Zellweger spectrum disorder“

Diagnosis

• Anthony: “Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders“

• Bacino: “A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey” 

• Moser: “Newborn Screening for X-Linked Adrenoleukodystrophy“

• Ratbi: “Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6“

• Shimozawa: “Molecular and Clinical Findings and Diagnostic Flowchart of Peroxisomal Disorders”

• Steinberg: “Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum”

• Ventura: “Diagnosis of a mild peroxisomal phenotype with next-generation sequencing“

• Wanders: “Clinical and Laboratory Diagnosis of Peroxisomal Disorders“

• Wangler: “A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers“

• Vasiljevic: “Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools“

Adrenal Insufficiency

• Berendse: “High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders”

Case Studies in Patients

• Berendse: “Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood” 

• National Alliance for Caregiving: “Rare Caregiving in America: Study Findings“

• Poll-The: “Peroxisome Biogenesis Disorders with Prolonged Survival“

• Raas-Rothschild: “PEX-6 Defective PBD infant vs Ushers”

• Westberry-Pugh: “Zellweger syndrome: An older child with progressive foot deformity“

• Barillari: “Mild form of Zellweger Spectrum Disorders (ZSD) due to variants inPEX1:Detailed clinical investigation in a 9-year-old female“

• Lee: “Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review“

• Bose: “Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers“

Liver Function  

• Berendse: “Cholic acid therapy in Zellweger spectrum disorders“

• Dhawan: “Hepatocyte transplantation for liver-based metabolic disorders“

• Jangam: “Drosophila models of ABCD1-related X-linked Adrenoleukodystrophy show possible implications in peroxisomal biogenesis“

• Wangler: “Drosophila Models Uncover Substrate Channeling Effects on Phospholipids and Sphingolipids in Peroxisomal Biogenesis Disorder“

• Wangler: “Model Organisms Screening In Undiagnosed Diseases“

• Sokal: “Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety and metabolic follow-up“

• Srivastav: “De novo deletion variant in the GTPase effector domain (GED) of DNM1L leads to Gross motor delay, hypotonia, axonal sensory neuropathy with peroxisomal and mitochondrial abnormalities“

• Zeynelabidin: “Coagulopathy in Zellweger spectrum disorders: a role for vitamin K“

American Society of Human Genetics 2024 Annual Meeting

• Jangam: “Drosophila models of ABCD1-related X-linked Adrenoleukodystrophy show possible implications in peroxisomal biogenesis“

• Srivastav: “De novo deletion variant in the GTPase effector domain (GED) of DNM1L leads to Gross motor delay, hypotonia, axonal sensory neuropathy with peroxisomal and mitochondrial abnormalities“

• Wangler: “Drosophila Models Uncover Substrate Channeling Effects on Phospholipids and Sphingolipids in Peroxisomal Biogenesis Disorder“

• Wangler: “Model Organisms Screening In Undiagnosed Diseases“

Treatment Guidelines

• Braverman: “Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines” (Treatment guidelines can also be viewed in French) 
  
• Klouwer: “Development and validation of a severity scoring system for Zellweger spectrum disorders​”
  
• Wanders: “Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders“

Animal Models

• Chao: “Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila“
   
• Faust: “An inventory of peroxisomal proteins and pathways in Drosophila melanogaster“
   
• Faust: “Peroxisomes Are Required for Lipid Metabolism and Muscle Function in Drosophila melanogaster“
   
• Hiebler: “The Pex1-G844D mouse: A model for mild human Zellweger  spectrum disorder“
   
• Mast: “A Drosophila Model for the Zellweger Spectrum of Peroxisome Biogenesis Disorders”
   
• Wangler: “Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse“

Plant Models

• Reumann: “Plant peroxisomes: recent discoveries in functional complexity, organelle homeostasis, and morphological dynamics” 

Cell Model 

• Berendse: “Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder“
   
• Wang: “Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities“
   
• Zhang: “Recovery of PEX1-Gly843Asp Peroxisome Dysfunction” 

Opthalmic Findings

• O’Bryhim: “Novel retinal findings in peroxisomal biogenesis disorders” 

Posters

• Wallace: “Outcomes of Cochlear Implantation in a Child with Zellweger Syndrome“

Caregiving

• AARP/NAC: “Caregiving in the U.S. 2020 Report“
  
• Bose: “Emotional experience in parents of children with Zellweger spectrum disorders: A qualitative study“