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Last Updated: 01/07/2026
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Found 1077 publications
Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.
Journal: Ophthalmic genetics
Published: October 23, 2025
Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.
Journal: Cureus
Published: August 24, 2025
Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study.
Journal: International journal of neonatal screening
Published: August 14, 2025
Identification of a novel PEX14 mutation in Zellweger syndrome.
Journal: BMJ case reports
Published: August 08, 2025
Chondrodysplasia Punctata: A Diagnostic Clue for Zellweger Spectrum Disorder.
Journal: Indian journal of pediatrics
Published: July 19, 2025
Urine organic acid analysis as a tool in evaluation for Zellweger Spectrum disorder: A retrospective study.
Journal: Molecular genetics and metabolism
Published: June 25, 2025
Molecular mechanism of substrate transport by human peroxisomal ABCD3.
Journal: bioRxiv : the preprint server for biology
Published: June 12, 2025
Pex1 loss-of-function in zebrafish is viable and recapitulates hallmarks of Zellweger spectrum disorders.
Journal: Frontiers in molecular neuroscience
Published: May 24, 2025
Early diagnosis of Zellweger syndrome through a Nationwide Liver Disease Registry System (CIRCLe).
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: March 29, 2025
Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family.
Journal: The application of clinical genetics
Published: February 20, 2025
Comparison of Caregiver-Reported Dietary Intake Methods in Zellweger Spectrum Disorder.
Journal: Nutrients
Published: January 21, 2025
Last Updated: 01/07/2026