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10.1530/EDM-20-0005 http://scihub22266oqcxt.onion/10.1530/EDM-20-0005 32369769!7219130!32369769     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=32369769&cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215       Endocrinol+Diabetes+Metab+Case+Rep 2020 ; 2020 (?): ? Nephropedia Template TP {{tp|p=32369769|t=2020. A novel TRPM6 variant (c 3179T A) causing familial hypomagnesemia with secondary hypocalcemia |pdf=|usr=}}{{32369769}} gab.com Text A novel TRPM6 variant (c 3179T A) causing familial hypomagnesemia with secondary hypocalcemia JO: Endocrinol Diabetes Metab Case Rep http://www.kidney.de/pget.php?&tw=1&pmid=32369769 #FOAvip SUMMARY: Familial hypomagnesemia with secondary hypocalcemia (FHSH) is a rare autosomal recessive disorder (OMIM# 602014) characterized by profound hypomagnesemia associated with hypocalcemia. It is caused by mutations in the gene encoding transient receptor potential cation channel member 6 (TRPM6). It usually presents with neurological symptoms in the first months of life. We report a case of a neonate presenting with recurrent seizures and severe hypomagnesemia. The genetic testing revealed a novel variant in the TRPM6 gene. The patient has been treated with high-dose magnesium supplementation, remaining asymptomatic and without neurological sequelae until adulthood. Early diagnosis and treatment are important to prevent irreversible neurological damage. LEARNING POINTS: Loss-of-function mutations of TRPM6 are associated with FHSH. FHSH should be considered in any child with refractory hypocalcemic seizures, especially in cases with serum magnesium levels as low as 0.2 mM. Normocalcemia and relief of clinical symptoms can be assured by administration of high doses of magnesium. Untreated, the disorder may be fatal or may result in irreversible neurological damage. Twit Text FOAVip A novel TRPM6 variant (c 3179T A) causing familial hypomagnesemia with secondary hypocalcemia ????Endocrinol Diabetes Metab Case Rep http://www.kidney.de/pget.php?&tw=1&pmid=32369769 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=32369769 #FOAvip English Wikipedia <ref>{{Cite pmid|32369769}}</ref> A novel TRPM6 variant (c 3179T A) causing familial hypomagnesemia with secondary hypocalcemia #MMPMID32369769 Lomelino-Pinheiro S; Margarida B; Lages AS Endocrinol Diabetes Metab Case Rep 2020[May]; 2020 (?): ? PMID32369769show ga SUMMARY: Familial hypomagnesemia with secondary hypocalcemia (FHSH) is a rare autosomal recessive disorder (OMIM# 602014) characterized by profound hypomagnesemia associated with hypocalcemia. It is caused by mutations in the gene encoding transient receptor potential cation channel member 6 (TRPM6). It usually presents with neurological symptoms in the first months of life. We report a case of a neonate presenting with recurrent seizures and severe hypomagnesemia. The genetic testing revealed a novel variant in the TRPM6 gene. The patient has been treated with high-dose magnesium supplementation, remaining asymptomatic and without neurological sequelae until adulthood. Early diagnosis and treatment are important to prevent irreversible neurological damage. LEARNING POINTS: Loss-of-function mutations of TRPM6 are associated with FHSH. FHSH should be considered in any child with refractory hypocalcemic seizures, especially in cases with serum magnesium levels as low as 0.2 mM. Normocalcemia and relief of clinical symptoms can be assured by administration of high doses of magnesium. Untreated, the disorder may be fatal or may result in irreversible neurological damage. ?A novel TRPM6 variant (c 3179T A) causing familial hypomagnesemia with(epmc).pdf DeepDyve Pubget Overpricing