Literature DB >> 30903374

Mild hypotonia and recurrent seizures in an 8-month-old boy: Answers.

Sare Gülfem Özlü1, Cigdem Seher Kasapkara2, Serdar Ceylaner3, Meryem Erat Nergız4, Başak Alan5, Songül Yılmaz6, Ayşegül Neşe Çıtak Kurt7.   

Abstract

Entities:  

Year:  2019        PMID： 30903374     DOI： 10.1007/s00467-019-04236-4

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


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  14 in total

1.  An infant with recurrent convulsive seizures of 3 weeks duration: questions.

Authors:  Masaki Shimizu; Yo Niida; Shoichi Koizumi; Akihiro Yachie
Journal:  Pediatr Nephrol       Date:  2013-09-13       Impact factor: 3.714

2.  Primary hypomagnesemia with secondary hypocalcemia in an infant.

Authors:  L Paunier; I C Radde; S W Kooh; P E Conen; D Fraser
Journal:  Pediatrics       Date:  1968-02       Impact factor: 7.124

3.  Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.

Authors:  Karl P Schlingmann; Stefanie Weber; Melanie Peters; Lene Niemann Nejsum; Helga Vitzthum; Karin Klingel; Markus Kratz; Elie Haddad; Ellinor Ristoff; Dganit Dinour; Maria Syrrou; Søren Nielsen; Martin Sassen; Siegfried Waldegger; Hannsjörg W Seyberth; Martin Konrad
Journal:  Nat Genet       Date:  2002-05-28       Impact factor: 38.330

Review 4.  Gitelman syndrome: pathophysiological and clinical aspects.

Authors:  G Graziani; C Fedeli; L Moroni; L Cosmai; S Badalamenti; C Ponticelli
Journal:  QJM       Date:  2010-07-22

5.  Novel TRPM6 mutations in familial hypomagnesemia with secondary hypocalcemia.

Authors:  Zhen Zhao; Yu Pei; Xianglan Huang; Yaping Liu; Wei Yang; Jing Sun; Nuo Si; Xiaoping Xing; Mei Li; Ou Wang; Yan Jiang; Xue Zhang; Weibo Xia
Journal:  Am J Nephrol       Date:  2013-05-16       Impact factor: 3.754

6.  Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel TRPM6 gene mutation.

Authors:  Abdelhadi M Habeb; Hanan Al-Harbi; Karl P Schlingmann
Journal:  Saudi J Kidney Dis Transpl       Date:  2012-09

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

Authors:  Hursit Apa; Ertan Kayserili; Hasan Agin; Murat Hizarcioglu; Pamir Gulez; Afig Berdeli
Journal:  Indian J Pediatr       Date:  2008-08-31       Impact factor: 1.967

8.  New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia.

Authors:  Sergio Lainez; Karl Peter Schlingmann; Jenny van der Wijst; Bernd Dworniczak; Femke van Zeeland; Martin Konrad; René J Bindels; Joost G Hoenderop
Journal:  Eur J Hum Genet       Date:  2013-08-14       Impact factor: 4.246

9.  Hypomagnesemia and functional hypoparathyroidism due to novel mutations in the Mg-channel TRPM6.

Authors:  Marianne C Astor; Kristian Løvås; Anette S B Wolff; Bjørn Nedrebø; Eirik Bratland; Jon Steen-Johnsen; Eystein S Husebye
Journal:  Endocr Connect       Date:  2015-08-13       Impact factor: 3.335

10.  A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report.

Authors:  Ayça Altıncık; Karl Peter Schlingmann; Mahya Sultan Tosun
Journal:  J Clin Res Pediatr Endocrinol       Date:  2015-12-18
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  3 in total

1.  Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation

Authors:  Hüsniye Yücel; Çiğdem Genç Sel; Çiğdem Seher Kasapkara; Gülin Karacan Küçükali; Senay Savas Erdeve; Ülkühan Öztoprak; Serdar Ceylaner; Saliha Şenel; Meltem Akçaboy
Journal:  J Clin Res Pediatr Endocrinol       Date:  2020-04-17

2.  Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review.

Authors:  Yiran Han; Yajuan Zhao; Hua Wang; Liang Huo
Journal:  Front Pediatr       Date:  2022-07-12       Impact factor: 3.569

3.  Long-term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary Hypocalcemia

Authors:  Elvan Bayramoğlu; Melikşah Keskin; Zehra Aycan; Şenay Savaş-Erdeve; Semra Çetinkaya
Journal:  J Clin Res Pediatr Endocrinol       Date:  2021-02-10
  3 in total

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