Unusual presentation of adult Gaucher's disease: A long and difficult road to diagnosis

Gaucher's disease is the most frequent sphingolipid storage disease. We present a case of type 1 non-neuropathic type of adult Gaucher's disease patient with atypical presentation.

Detalles Bibliográficos
Autores principales: Jain, Vishakha V., Yelwatkar, Samir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156547/
https://www.ncbi.nlm.nih.gov/pubmed/21897904
http://dx.doi.org/10.4103/2230-8210.83415
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author Jain, Vishakha V.
Yelwatkar, Samir
author_facet Jain, Vishakha V.
Yelwatkar, Samir
author_sort Jain, Vishakha V.
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description Gaucher's disease is the most frequent sphingolipid storage disease. We present a case of type 1 non-neuropathic type of adult Gaucher's disease patient with atypical presentation.
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spelling pubmed-31565472011-09-06 Unusual presentation of adult Gaucher's disease: A long and difficult road to diagnosis Jain, Vishakha V. Yelwatkar, Samir Indian J Endocrinol Metab Case Report Gaucher's disease is the most frequent sphingolipid storage disease. We present a case of type 1 non-neuropathic type of adult Gaucher's disease patient with atypical presentation. Medknow Publications 2011 /pmc/articles/PMC3156547/ /pubmed/21897904 http://dx.doi.org/10.4103/2230-8210.83415 Text en © Indian Journal of Endocrinology and Metabolism http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Jain, Vishakha V.
Yelwatkar, Samir
Unusual presentation of adult Gaucher's disease: A long and difficult road to diagnosis
title Unusual presentation of adult Gaucher's disease: A long and difficult road to diagnosis
title_full Unusual presentation of adult Gaucher's disease: A long and difficult road to diagnosis
title_fullStr Unusual presentation of adult Gaucher's disease: A long and difficult road to diagnosis
title_full_unstemmed Unusual presentation of adult Gaucher's disease: A long and difficult road to diagnosis
title_short Unusual presentation of adult Gaucher's disease: A long and difficult road to diagnosis
title_sort unusual presentation of adult gaucher's disease: a long and difficult road to diagnosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156547/
https://www.ncbi.nlm.nih.gov/pubmed/21897904
http://dx.doi.org/10.4103/2230-8210.83415
work_keys_str_mv AT jainvishakhav unusualpresentationofadultgauchersdiseasealonganddifficultroadtodiagnosis
AT yelwatkarsamir unusualpresentationofadultgauchersdiseasealonganddifficultroadtodiagnosis

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