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Abnormal lysosomal morphology

MedGen UID:
1627384
•Concept ID:
C4531183
•
Anatomical Abnormality
HPO: HP:0031340

Definition

A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal lysosomal morphology

Professional guidelines

PubMed

Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy.
Bertolin J, Sánchez V, Ribera A, Jaén ML, Garcia M, Pujol A, Sánchez X, Muñoz S, Marcó S, Pérez J, Elias G, León X, Roca C, Jimenez V, Otaegui P, Mulero F, Navarro M, Ruberte J, Bosch F
Nat Commun 2021 Sep 9;12(1):5343. doi: 10.1038/s41467-021-25697-y. PMID: 34504088Free PMC Article
Molecular Mechanisms and Treatment Options of Nephropathic Cystinosis.
Jamalpoor A, Othman A, Levtchenko EN, Masereeuw R, Janssen MJ
Trends Mol Med 2021 Jul;27(7):673-686. Epub 2021 May 8 doi: 10.1016/j.molmed.2021.04.004. PMID: 33975805
Pathophysiology, evaluation, and management of sleep disorders in the mucopolysaccharidoses.
Rapoport DM, Mitchell JJ
Mol Genet Metab 2017 Dec;122S:49-54. Epub 2017 Aug 25 doi: 10.1016/j.ymgme.2017.08.008. PMID: 28964643

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