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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

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
Prenatal genetic diagnosis. 3.
Milunsky A, Littlefield JW, Kanvfer JN, Kolodny EH, Shih VE, Atkins L
N Engl J Med 1970 Dec 31;283(27):1498-504. doi: 10.1056/NEJM197012312832705. PMID: 4992307

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