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Atypical Gaucher Disease

MedGen UID:
893528
•Concept ID:
CN239218
•
Disease or Syndrome

Professional guidelines

PubMed

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
Park JK, Orvisky E, Tayebi N, Kaneski C, Lamarca ME, Stubblefield BK, Martin BM, Schiffmann R, Sidransky E
Pediatr Res 2003 Mar;53(3):387-95. doi: 10.1203/01.PDR.0000049515.79882.94. PMID: 12595585

Recent clinical studies

Diagnosis

Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene.
Kolnikova M, Jungova P, Skopkova M, Foltan T, Gasperikova D, Mattosova S, Chandoga J
J Mol Neurosci 2019 Apr;67(4):559-563. Epub 2019 Jan 11 doi: 10.1007/s12031-019-1259-7. PMID: 30632081

Clinical prediction guides

Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family.
Liaqat K, Hussain S, Acharya A, Nasir A, Bharadwaj T, Ansar M, Basit S, Schrauwen I, Ahmad W, Leal SM
Genes (Basel) 2022 Apr 9;13(4) doi: 10.3390/genes13040662. PMID: 35456468Free PMC Article

Supplemental Content

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    Clinical resources

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    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PubMed
      Related literature resources in PubMed

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