Zellweger Syndrome Latest Advances

New Multiplex LC-MS/MS Method for lipid biomarker Analysis of Inherited Neurodegenerative Metabolic Diseases.

Journal: Journal of lipid research

Published: October 24, 2025

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

Effectiveness and Safety of High-Dose Oral Phenobarbital in Children With Recurrent and Treatment-Refractory Seizures.

Journal: Clinical pediatrics

Published: March 25, 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