@article{article_282412, title={Association of Gaucher’s Disease with Hypoparathyroidism: Co-incidence or a Novel Association?}, journal={The Medical Journal of Mustafa Kemal University}, volume={7}, year={2016}, DOI={10.17944/mkutfd.41900}, author={Sultan, Kaba and Doğan, Murat and Bala, Keziban Aslı and Demirören, Kaan and Demir, Nihat and Ceylan, Nesrin}, abstract={<p>Gaucher’s disease-related hypoparathyroidism is a condition that hasn’t been previously described. Here, we presented a ten years old boy referred to our clinic due to hypocalcemic convulsion who was found to have splenomegaly, bicytopenia and hypoparathyroidism. Gene muatation analysis was result in two mutation; (c.(1192C>T);(1226A>G) and p.(Arg359Term);(Asn370Ser). In the context of this patient with Gaucher’s disease, we will discuss whether this association is co-incidence or a novel finding. </p> <p> <strong>Keywords: </strong>Gaucher’s diease, Hypoparathyroidism, child </p>}, number={27}, publisher={Hatay Mustafa Kemal Üniversitesi}