trpm6 gene
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Hypomagnesemia with Secondary Hypoparathyroidism and Hypocalcemia due to Novel Variants in the Transient Receptor Potential Cation Channel Subfamily M Member 6 (TRPM6) Gene

2021 ◽  
Author(s):  
Geetanjali Jain ◽  
Gourab Das ◽  
Rakhi Malhotra ◽  
Sateesh Ramchandran ◽  
Nagaraja M. Phani ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Transient Receptor Potential ◽  
Receptor Potential ◽  
Autosomal Recessive Disorder ◽  
Cation Channel ◽  
Neonatal Seizures ◽  
Rare Autosomal Recessive Disorder ◽  
Novel Variants ◽  
Transient Receptor ◽  
Trpm6 Gene

AbstractHOMG1 (hypomagnesemia 1, intestinal) or hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder of magnesium metabolism, characterized by impaired magnesium absorption. This disorder may mimic other conditions presenting with neonatal seizures. Here, we report an infant diagnosed to have hypomagnesemia with secondary hypocalcemia due to novel variants in TRPM6 gene.

scholarly journals Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report

2021 ◽  
Author(s):  
Jan Papez ◽  
Jiri Starha ◽  
Katerina Slaba ◽  
Jaroslav A Hubacek ◽  
Jakub Pecl ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutations ◽  
Trpm6 Gene

scholarly journals TRPM6 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Trpm6 Gene

scholarly journals TRPM6 Gene Mutation Responsible for Familial Hypomagnesemia with Secondary Hypocalcemia

2019 ◽  
Vol 03 (01) ◽  
Author(s):  
Mahmoud Al Hussein ◽  
Shafiqa Saleh ◽  
Sura El Doory ◽  
Mohammed Ali Al Sabbah ◽  
Maysa Saleh
Keyword(s):  
Gene Mutation ◽  
Familial Hypomagnesemia ◽  
Trpm6 Gene

scholarly journals Hypomagnesemia with Secondary Hypocalcemia Linked to a Novel TRPM6 Gene Mutation

2016 ◽  
Vol 06 (04) ◽  
pp. 290-294 ◽  
Author(s):  
Amel Tej ◽  
Bernd Dworniczak ◽  
Asma Marzouk ◽  
Najla Soyah ◽  
Samia Tilouche ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Trpm6 Gene

scholarly journals Hypomagnesaemia with secondary hypocalcaemia due to TRPM6 gene mutation

2012 ◽  
Vol 41 (4) ◽  
pp. 205 ◽  
Author(s):  
Rajesh Joshi ◽  
Phatarpekar Ankur
Keyword(s):  
Gene Mutation ◽  
Trpm6 Gene

A case of hypomagnesemia with secondary hypocalcemia caused by Trpm6 gene mutation

2008 ◽  
Vol 75 (6) ◽  
pp. 632-634 ◽  
Author(s):  
Hursit Apa ◽  
Ertan Kayserili ◽  
Hasan Agin ◽  
Murat Hizarcioglu ◽  
Pamir Gulez ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Trpm6 Gene

scholarly journals Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia

2004 ◽  
Vol 101 (9) ◽  
pp. 2894-2899 ◽  
Author(s):  
V. Chubanov ◽  
S. Waldegger ◽  
M. M. y Schnitzler ◽  
H. Vitzthum ◽  
M. C. Sassen ◽  
...  
Keyword(s):  
Complex Formation ◽  
Trpm6 Gene
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