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Peroxisomal Disorders
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How do I get a diagnosis?
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Types of peroxisomal disorders
What are peroxisomal disorders
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Scholarly Articles
Articles on Peroxisomal Biogenesis Disorder – Zellweger Spectrum Disorder
Scholarly Articles
Bone and Dental Issues and PBD/ZSD
Hearing
Diagnosis of PBD/ZSD
Adrenal Insufficiency in PBD/ZSD
Case Studies in Patients with PBD/ZSD
Liver Function in PBD/ZSD
Treatment Guidelines in PBD/ZSD
Animal Models in PBD/ZSD
Plant Models in PBD/ZSD
Cell Model
Ophthalmic Findings in PBD-ZSD
Posters
Caregiving
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
”
Hearing
Mellon
: “
Should all deaf children learn sign language?
“
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”
Adrenal Insufficiency in PBD/ZSD
Berendse
: “
High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders
”
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”
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”
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
“
Caregiving
AARP/NAC:
“
Caregiving in The U.S. 2020 Report”
Bose:
“
Emotional experience in parents of children with Zellweger spectrum disorders: A qualitative study”
Welcome
Peroxisomal Disorders
Facts at a Glance
How do I get a diagnosis?
Signs and Symptoms
Types of peroxisomal disorders
What are peroxisomal disorders
About Us
Achievement Timeline
Board of Directors
Impact Report
Medical and Scientific Advisors
Our History
Our Mission
Our Partners
Our Team
Our Work
Support & Resources
A Letter to Newly Diagnosed Parents
Bereavement Resources
Care Resources
Equipment Exchange
Family Directory
GFPD Support Groups
Information for Newly Diagnosed Patients
Meet our GFPD Warriors
Request Support
Research
Clinical Trials
Current Research
Fellowships
Past Scientific Conferences
Scholarly Articles
Events
Conferences
Hues for Hope
Pause for the GFPD
Walk Run Ride
More
Advocate
Community Directory
Donate
Fundraise
Join a Committee
News
Shop GFPD Gear
Take Action
For Researchers
Blog