Cilt 7, Sayı 27, Sayfalar 0 - 0 2016-09-30

Association of Gaucher’s Disease with Hypoparathyroidism: Co-incidence or a Novel Association?

Kaba Sultan [1] , Murat Doğan [2] , Keziban Aslı Bala [3] , Kaan Demirören [4] , Nihat Demir [5] , Nesrin Ceylan [6]

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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.

Keywords: Gaucher’s diease, Hypoparathyroidism, child

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Konular
Dergi Bölümü Olgu Sunumu
Yazarlar

Yazar: Kaba Sultan
E-posta: sultan33kaba@hotmail.com

Yazar: Murat Doğan
E-posta: doganmurat.md@gmail.com

Yazar: Keziban Aslı Bala
E-posta: kezibanaslibulan@gmail.com

Yazar: Kaan Demirören
E-posta: kaandem@hotmail.com

Yazar: Nihat Demir
E-posta: demirnihat27@hotmail.com

Yazar: Nesrin Ceylan
E-posta: drnesrinceylan@homail.com

Bibtex @ { mkutfd282412, journal = {Mustafa Kemal Üniversitesi Tıp Dergisi}, issn = {1308-7185}, address = {Mustafa Kemal Üniversitesi}, year = {2016}, volume = {7}, pages = {0 - 0}, doi = {10.17944/mkutfd.41900}, title = {Association of Gaucher’s Disease with Hypoparathyroidism: Co-incidence or a Novel Association?}, language = {en}, key = {cite}, author = {Demir, Nihat and Ceylan, Nesrin and Doğan, Murat and Bala, Keziban Aslı and Sultan, Kaba and Demirören, Kaan} }
APA Sultan, K , Doğan, M , Bala, K , Demirören, K , Demir, N , Ceylan, N . (2016). Association of Gaucher’s Disease with Hypoparathyroidism: Co-incidence or a Novel Association?. Mustafa Kemal Üniversitesi Tıp Dergisi, 7 (27), 0-0. DOI: 10.17944/mkutfd.41900
MLA Sultan, K , Doğan, M , Bala, K , Demirören, K , Demir, N , Ceylan, N . "Association of Gaucher’s Disease with Hypoparathyroidism: Co-incidence or a Novel Association?". Mustafa Kemal Üniversitesi Tıp Dergisi 7 (2016): 0-0 <http://dergipark.gov.tr/mkutfd/issue/26852/282412>
Chicago Sultan, K , Doğan, M , Bala, K , Demirören, K , Demir, N , Ceylan, N . "Association of Gaucher’s Disease with Hypoparathyroidism: Co-incidence or a Novel Association?". Mustafa Kemal Üniversitesi Tıp Dergisi 7 (2016): 0-0
RIS TY - JOUR T1 - Association of Gaucher’s Disease with Hypoparathyroidism: Co-incidence or a Novel Association? AU - Kaba Sultan , Murat Doğan , Keziban Aslı Bala , Kaan Demirören , Nihat Demir , Nesrin Ceylan Y1 - 2016 PY - 2016 N1 - doi: 10.17944/mkutfd.41900 DO - 10.17944/mkutfd.41900 T2 - Mustafa Kemal Üniversitesi Tıp Dergisi JF - Journal JO - JOR SP - 0 EP - 0 VL - 7 IS - 27 SN - 1308-7185-2149-3103 M3 - doi: 10.17944/mkutfd.41900 UR - http://dx.doi.org/10.17944/mkutfd.41900 Y2 - 2017 ER -
EndNote %0 Mustafa Kemal Üniversitesi Tıp Dergisi Association of Gaucher’s Disease with Hypoparathyroidism: Co-incidence or a Novel Association? %A Kaba Sultan , Murat Doğan , Keziban Aslı Bala , Kaan Demirören , Nihat Demir , Nesrin Ceylan %T Association of Gaucher’s Disease with Hypoparathyroidism: Co-incidence or a Novel Association? %D 2016 %J Mustafa Kemal Üniversitesi Tıp Dergisi %P 1308-7185-2149-3103 %V 7 %N 27 %R doi: 10.17944/mkutfd.41900 %U 10.17944/mkutfd.41900