Zellweger Syndrome Latest Advances

Modeling the cell biology of PEX11β deficiency during human neurogenesis.

Journal: bioRxiv : the preprint server for biology

Published: February 27, 2026

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

Unveiling a New Link: Cholesterol Deficiency in Smith-Lemli-Opitz and Niemann-Pick C as a Driver of Ciliopathies.

Journal: American journal of medical genetics. Part A

Published: September 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

Chondrodysplasia Punctata: A Diagnostic Clue for Zellweger Spectrum Disorder.

Journal: Indian journal of pediatrics

Published: July 19, 2025

Identification of Potential Therapeutic Agents for Primary Amebic Meningoencephalitis Using Text Mining and Bioinformatics Analyses.

Journal: Analytical cellular pathology (Amsterdam)

Published: June 29, 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

Dysregulated lipid metabolism and hypomyelination in postnatal peroxisome-deficient Pex2 knockout Zellweger mice.

Journal: Frontiers in molecular neuroscience

Published: May 27, 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

Zellweger Syndrome Latest Advances

Find the Latest Research About Zellweger Syndrome

Modeling the cell biology of PEX11β deficiency during human neurogenesis.

Modeling the cell biology of PEX11β deficiency during human neurogenesis.

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases.

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases.

Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.

Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.

Unveiling a New Link: Cholesterol Deficiency in Smith-Lemli-Opitz and Niemann-Pick C as a Driver of Ciliopathies.

Unveiling a New Link: Cholesterol Deficiency in Smith-Lemli-Opitz and Niemann-Pick C as a Driver of Ciliopathies.

Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.

Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.

Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study.

Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study.

Chondrodysplasia Punctata: A Diagnostic Clue for Zellweger Spectrum Disorder.

Chondrodysplasia Punctata: A Diagnostic Clue for Zellweger Spectrum Disorder.

Identification of Potential Therapeutic Agents for Primary Amebic Meningoencephalitis Using Text Mining and Bioinformatics Analyses.

Identification of Potential Therapeutic Agents for Primary Amebic Meningoencephalitis Using Text Mining and Bioinformatics Analyses.

Urine organic acid analysis as a tool in evaluation for Zellweger Spectrum disorder: A retrospective study.

Urine organic acid analysis as a tool in evaluation for Zellweger Spectrum disorder: A retrospective study.

Molecular mechanism of substrate transport by human peroxisomal ABCD3.

Molecular mechanism of substrate transport by human peroxisomal ABCD3.

Dysregulated lipid metabolism and hypomyelination in postnatal peroxisome-deficient Pex2 knockout Zellweger mice.

Dysregulated lipid metabolism and hypomyelination in postnatal peroxisome-deficient Pex2 knockout Zellweger mice.

Pex1 loss-of-function in zebrafish is viable and recapitulates hallmarks of Zellweger spectrum disorders.

Pex1 loss-of-function in zebrafish is viable and recapitulates hallmarks of Zellweger spectrum disorders.