Scholarly Articles

Bone and Dental Issues and PBD/ZSD

• 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 of PBD/ZSD

• 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 in PBD/ZSD

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

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Case Studies in Patients with PBD/ZSD

• 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 in PBD/ZSD 

• 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

Treatment Guidelines in PBD/ZSD

• 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 in PBD/ZSD

• 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 in PBD/ZSD 

• 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 in PBD-ZSD

• 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”