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10.1007/s00431-008-0767-1 http://scihub22266oqcxt.onion/10.1007/s00431-008-0767-1 18548273!ä!18548273 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Eur+J+Pediatr 2009 ; 168 (4): 439-42 Nephropedia Template TP {{tp|p=18548273|t=2009. Long-term follow-up of a patient with primary hypomagnesaemia and secondary hypocalcaemia due to a novel TRPM6 mutation |pdf=|usr=}}{{18548273}} gab.com Text Long-term follow-up of a patient with primary hypomagnesaemia and secondary hypocalcaemia due to a novel TRPM6 mutation JO: Eur J Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=18548273 #FOAvip Hypomagnesaemia with secondary hypocalcaemia (HSH) is a rare condition usually presenting in the newborn period as refractory seizures, other symptoms of increased neuromuscular excitability and growth disturbances. A case with a novel TRPM6 mutation with an excellent long-term outcome is reported to highlight the observation that clinical suspicion is essential for an early diagnosis and treatment of HSH. The compliance of a long-term treatment with oral magnesium supplements is critical to avoid abnormalities of neurological and physical development. The finding of novel mutations supports the notion that the molecular study of the whole TRPM6 gene is required for diagnostic accuracy. Furthermore, the molecular study of the different types of hereditary hypomagnesaemia is critical to further improve our knowledge of magnesium homeostasis. Twit Text FOAVip Long-term follow-up of a patient with primary hypomagnesaemia and secondary hypocalcaemia due to a novel TRPM6 mutation ????Eur J Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=18548273 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=18548273 #FOAvip English Wikipedia <ref>{{Cite pmid|18548273}}</ref> Long-term follow-up of a patient with primary hypomagnesaemia and secondary hypocalcaemia due to a novel TRPM6 mutation #MMPMID18548273 Esteban-Oliva D; Pintos-Morell G; Konrad M Eur J Pediatr 2009[Apr]; 168 (4): 439-42 PMID18548273show ga Hypomagnesaemia with secondary hypocalcaemia (HSH) is a rare condition usually presenting in the newborn period as refractory seizures, other symptoms of increased neuromuscular excitability and growth disturbances. A case with a novel TRPM6 mutation with an excellent long-term outcome is reported to highlight the observation that clinical suspicion is essential for an early diagnosis and treatment of HSH. The compliance of a long-term treatment with oral magnesium supplements is critical to avoid abnormalities of neurological and physical development. The finding of novel mutations supports the notion that the molecular study of the whole TRPM6 gene is required for diagnostic accuracy. Furthermore, the molecular study of the different types of hereditary hypomagnesaemia is critical to further improve our knowledge of magnesium homeostasis. |*Mutation[MESH] |Calcium/metabolism[MESH] |Consanguinity[MESH] |DNA Mutational Analysis[MESH] |Female[MESH] |Follow-Up Studies[MESH] |Genes, Recessive[MESH] |Humans[MESH] |Hypocalcemia/diagnosis/*genetics/metabolism[MESH] |Infant, Newborn[MESH] |Infant, Newborn, Diseases/diagnosis/*genetics[MESH] |Magnesium/*metabolism[MESH] |Metabolism, Inborn Errors/diagnosis/*genetics[MESH] |Pedigree[MESH] |Seizures/diagnosis/genetics/metabolism[MESH]Long-term follow-up of a patient with primary hypomagnesaemia and seco(epmc).pdf DeepDyve Pubget Overpricing