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Dergiler / Interdisciplinary Medical Journal / 2016 / Cilt: 7 - Sayı: 27

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

Kaba SULTAN
Murat DOĞAN
Keziban Aslı Bala
Kaan Demirören
Nihat Demir
Nesrin Ceylan
Sayfa
1–1
Yayın Tarihi
2016-09-30
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

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

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Gaucher’s disease-related hypoparathyroidism is a condition that hasn’t been previously described.
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Temel Bulgular & Veri:Gene muatation analysis was result in two mutation; (c.(1192C>T);(1226A>G) and p.(Arg359Term);(Asn370Ser).
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Sonuç & Katkı: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
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Abstract

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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Bu Makaleye Atıf Yap

SULTAN, K., DOĞAN, M., Bala, K. A., Demirören, K., Demir, N., Ceylan, N. (2016). Association of Gaucher’s Disease with Hypoparathyroidism: Co-incidence or a Novel Association?. Interdisciplinary Medical Journal, Cilt: 7 - Sayı: 27, 1–1. https://ajindex.com/articles/887708

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Kaynakça (7)

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