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Abnormal cellular physiology

MedGen UID:
869173
•Concept ID:
C4023595
•
Cell or Molecular Dysfunction
Synonym: Abnormality of cell physiology
 
HPO: HP:0011017

Definition

An abnormality in a cellular process. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal cellular physiology

Professional guidelines

PubMed

Fragile X syndrome: clinical presentation, pathology and treatment.
Salcedo-Arellano MJ, Hagerman RJ, Martínez-Cerdeño V
Gac Med Mex 2020;156(1):60-66. doi: 10.24875/GMM.19005275. PMID: 32026885
Hemolytic Anemia: Evaluation and Differential Diagnosis.
Phillips J, Henderson AC
Am Fam Physician 2018 Sep 15;98(6):354-361. PMID: 30215915
Pulmonary arterial hypertension: pathogenesis and clinical management.
Thenappan T, Ormiston ML, Ryan JJ, Archer SL
BMJ 2018 Mar 14;360:j5492. doi: 10.1136/bmj.j5492. PMID: 29540357Free PMC Article

Recent clinical studies

Diagnosis

Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6.
Zhang Y, Yu Y, Zhao X, Xu Y, Chen L, Li N, Yao R, Wang J, Yu T
Pediatr Neurol 2022 Jun;131:30-41. Epub 2022 Apr 15 doi: 10.1016/j.pediatrneurol.2022.04.002. PMID: 35468344

Prognosis

Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6.
Zhang Y, Yu Y, Zhao X, Xu Y, Chen L, Li N, Yao R, Wang J, Yu T
Pediatr Neurol 2022 Jun;131:30-41. Epub 2022 Apr 15 doi: 10.1016/j.pediatrneurol.2022.04.002. PMID: 35468344

Clinical prediction guides

Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6.
Zhang Y, Yu Y, Zhao X, Xu Y, Chen L, Li N, Yao R, Wang J, Yu T
Pediatr Neurol 2022 Jun;131:30-41. Epub 2022 Apr 15 doi: 10.1016/j.pediatrneurol.2022.04.002. PMID: 35468344
Ca2+ homeostasis and Ca2+ signalling in sulphur mustard-exposed normal human epidermal keratinocytes.
Mol MA, Smith WJ
Chem Biol Interact 1996 Mar 8;100(1):85-93. doi: 10.1016/s0009-2797(96)03692-7. PMID: 8599858

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
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    Consumer resources

    Reviews

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