Scholarly Articles

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”

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Hearing

• Mellon: “Should all deaf children learn sign language?“
• Walia: “Cochlear implantation and audiological findings in a child with Zellweger spectrum disorder“

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Diagnosis

• 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 Mutationsin the Peroxisome-Biogenesis Genes PEX1and 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”

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Adrenal Insufficiency

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

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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-years-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”

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Liver Function  

• Berendse: “Cholic acid therapy in Zellweger spectrum disorders“
   
• Dhawan: “Hepatocyte transplantation for liver-based metabolic disorders“
   
• Sokal: “Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety and metabolic follow-up
   
• Zeynelabidin: “Coagulopathy in Zellweger spectrum disorders: a role for vitamin K”
  
• Wangler: Model Organisms Screening In Undiagnosed Diseases
  
• Jangam: Drosophila models of ABCD1-related X-linked Adrenoleukodystrophy show possible i
  mplications in peroxisomal biogenesis
  
• Wangler: Drosophila Models Uncover Substrate Channeling Effects on Phospholipids and Sphingolipids in Peroxisomal Biogenesis Disorder
  
• 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

American Society of Human Genetics 2024 Annual Meeting

• Wangler: Model Organisms Screening In Undiagnosed Diseases
  
• Jangam: Drosophila models of ABCD1-related X-linked Adrenoleukodystrophy show possible i
  mplications in peroxisomal biogenesis
  
• Wangler: Drosophila Models Uncover Substrate Channeling Effects on Phospholipids and Sphingolipids in Peroxisomal Biogenesis Disorder
  
• 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

Treatment Guidelines

• Braverman: “Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines”  The 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“

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Caregiving

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