Matches in SemOpenAlex for { <https://semopenalex.org/work/W3133670393> ?p ?o ?g. }
Showing items 1 to 97 of
97
with 100 items per page.
- W3133670393 abstract "Griscelli syndrome (GS) is a rare autosomal recessive disease with characteristic pigment distribution, and there are currently 3 types according to the underlying genetic defect and clinical features. We present the case of a girl born from consanguineous parents who presented with predominant neurologic symptoms, silvery hair and granulomatous skin lesions. Cerebral magnetic resonance revealed diffuse white matter lesions, and central nervous system (CNS) lymphocytic infiltration was suspected. The patient underwent haematopoietic stem cell transplantation with graft failure and autologous reconstitution. She developed elevated liver enzyme with a cholestatic pattern. Multiple liver biopsies revealed centrilobular cholestasis and unspecific portal inflammation that improved with immunomodulatory treatment. She was revealed to have an impaired cytotoxicity in NK cells and a decreased expression of RAB27A. However, no variants were found in the gene. All types of GS present with pigment dilution and irregular pigment clumps that can be seen through light microscopy in hair and skin biopsy. Dermic granulomas and immunodeficiency with infectious and HLH predisposition have been described in GS type 2 (GS2). Neurologic alterations might be seen in GS type 1 (GS1) and GS type 2 (GS2), due to different mechanisms. GS1 presents with neurologic impairment secondary to myosin Va role in neuronal development and synapsis. Meanwhile, GS2 can present with neurologic impairment secondary to SNC HLH. Clinical features and cytotoxicity might aid in differentiating GS1 and GS2, especially since treatment differs." @default.
- W3133670393 created "2021-03-15" @default.
- W3133670393 creator A5009113231 @default.
- W3133670393 creator A5022693250 @default.
- W3133670393 creator A5031920233 @default.
- W3133670393 creator A5037611966 @default.
- W3133670393 creator A5046152058 @default.
- W3133670393 creator A5053387748 @default.
- W3133670393 creator A5079702928 @default.
- W3133670393 creator A5082797763 @default.
- W3133670393 date "2021-03-20" @default.
- W3133670393 modified "2023-10-15" @default.
- W3133670393 title "Diagnostic and therapeutic caveats in Griscelli syndrome" @default.
- W3133670393 cites W1489286522 @default.
- W3133670393 cites W1717049970 @default.
- W3133670393 cites W1972122832 @default.
- W3133670393 cites W1972797037 @default.
- W3133670393 cites W1976910940 @default.
- W3133670393 cites W1983007591 @default.
- W3133670393 cites W1990268416 @default.
- W3133670393 cites W1995278825 @default.
- W3133670393 cites W2002868110 @default.
- W3133670393 cites W2017222087 @default.
- W3133670393 cites W2023173459 @default.
- W3133670393 cites W2023192509 @default.
- W3133670393 cites W2036855076 @default.
- W3133670393 cites W2047835204 @default.
- W3133670393 cites W2058658949 @default.
- W3133670393 cites W2067618437 @default.
- W3133670393 cites W2080438514 @default.
- W3133670393 cites W2088517314 @default.
- W3133670393 cites W2092945250 @default.
- W3133670393 cites W2124015786 @default.
- W3133670393 cites W2162251899 @default.
- W3133670393 cites W2216198954 @default.
- W3133670393 cites W2304093644 @default.
- W3133670393 cites W2328428493 @default.
- W3133670393 cites W2473312211 @default.
- W3133670393 cites W2552618756 @default.
- W3133670393 cites W2624060515 @default.
- W3133670393 cites W2727444742 @default.
- W3133670393 cites W2747576990 @default.
- W3133670393 cites W2794022608 @default.
- W3133670393 cites W2803157865 @default.
- W3133670393 cites W2896538391 @default.
- W3133670393 cites W2932859526 @default.
- W3133670393 cites W2940300040 @default.
- W3133670393 cites W2954937003 @default.
- W3133670393 cites W2963396261 @default.
- W3133670393 cites W2973750701 @default.
- W3133670393 cites W3015462028 @default.
- W3133670393 cites W3015644415 @default.
- W3133670393 cites W3029368758 @default.
- W3133670393 cites W3048883665 @default.
- W3133670393 cites W4293768943 @default.
- W3133670393 doi "https://doi.org/10.1111/sji.13034" @default.
- W3133670393 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33660295" @default.
- W3133670393 hasPublicationYear "2021" @default.
- W3133670393 type Work @default.
- W3133670393 sameAs 3133670393 @default.
- W3133670393 citedByCount "8" @default.
- W3133670393 countsByYear W31336703932021 @default.
- W3133670393 countsByYear W31336703932022 @default.
- W3133670393 countsByYear W31336703932023 @default.
- W3133670393 crossrefType "journal-article" @default.
- W3133670393 hasAuthorship W3133670393A5009113231 @default.
- W3133670393 hasAuthorship W3133670393A5022693250 @default.
- W3133670393 hasAuthorship W3133670393A5031920233 @default.
- W3133670393 hasAuthorship W3133670393A5037611966 @default.
- W3133670393 hasAuthorship W3133670393A5046152058 @default.
- W3133670393 hasAuthorship W3133670393A5053387748 @default.
- W3133670393 hasAuthorship W3133670393A5079702928 @default.
- W3133670393 hasAuthorship W3133670393A5082797763 @default.
- W3133670393 hasBestOaLocation W31336703931 @default.
- W3133670393 hasConcept C177713679 @default.
- W3133670393 hasConcept C71924100 @default.
- W3133670393 hasConceptScore W3133670393C177713679 @default.
- W3133670393 hasConceptScore W3133670393C71924100 @default.
- W3133670393 hasIssue "6" @default.
- W3133670393 hasLocation W31336703931 @default.
- W3133670393 hasOpenAccess W3133670393 @default.
- W3133670393 hasPrimaryLocation W31336703931 @default.
- W3133670393 hasRelatedWork W1506200166 @default.
- W3133670393 hasRelatedWork W2039318446 @default.
- W3133670393 hasRelatedWork W2048182022 @default.
- W3133670393 hasRelatedWork W2080531066 @default.
- W3133670393 hasRelatedWork W2748952813 @default.
- W3133670393 hasRelatedWork W2899084033 @default.
- W3133670393 hasRelatedWork W2998699411 @default.
- W3133670393 hasRelatedWork W3032375762 @default.
- W3133670393 hasRelatedWork W3108674512 @default.
- W3133670393 hasRelatedWork W4252371801 @default.
- W3133670393 hasVolume "93" @default.
- W3133670393 isParatext "false" @default.
- W3133670393 isRetracted "false" @default.
- W3133670393 magId "3133670393" @default.
- W3133670393 workType "article" @default.