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Peroxisome Biogenesis Disorders in the Zellweger Spectrum

MedGen UID:
772498
•Concept ID:
C3658299
•
Disease or Syndrome
Synonyms: PBD, ZSS; Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum; Spectrum, Zellweger; Zellweger Spectrum; Zellweger Syndrome Spectrum

Definition

A group of conditions with overlapping signs and symptoms. It includes Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPeroxisome Biogenesis Disorders in the Zellweger Spectrum

Professional guidelines

PubMed

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M
Mol Genet Metab 2016 Mar;117(3):313-21. Epub 2015 Dec 23 doi: 10.1016/j.ymgme.2015.12.009. PMID: 26750748Free PMC Article

Recent clinical studies

Etiology

A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum.
Lee J, Yergeau C, Kawai K, Braverman N, Géléoc GSG
Ear Hear 2022 Mar/Apr;43(2):582-591. doi: 10.1097/AUD.0000000000001126. PMID: 34534157Free PMC Article
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M
Mol Genet Metab 2016 Mar;117(3):313-21. Epub 2015 Dec 23 doi: 10.1016/j.ymgme.2015.12.009. PMID: 26750748Free PMC Article

Diagnosis

A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum.
Lee J, Yergeau C, Kawai K, Braverman N, Géléoc GSG
Ear Hear 2022 Mar/Apr;43(2):582-591. doi: 10.1097/AUD.0000000000001126. PMID: 34534157Free PMC Article
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M
Mol Genet Metab 2016 Mar;117(3):313-21. Epub 2015 Dec 23 doi: 10.1016/j.ymgme.2015.12.009. PMID: 26750748Free PMC Article

Clinical prediction guides

A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum.
Lee J, Yergeau C, Kawai K, Braverman N, Géléoc GSG
Ear Hear 2022 Mar/Apr;43(2):582-591. doi: 10.1097/AUD.0000000000001126. PMID: 34534157Free PMC Article

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