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10.1007/s12098-008-0121-7

http://scihub22266oqcxt.onion/10.1007/s12098-008-0121-7
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18759094!ä!18759094

suck abstract from ncbi


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pmid18759094      Indian+J+Pediatr 2008 ; 75 (6): 632-4
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  • A case of hypomagnesemia with secondary hypocalcemia caused by Trpm6 gene mutation #MMPMID18759094
  • Apa H; Kayserili E; Agin H; Hizarcioglu M; Gulez P; Berdeli A
  • Indian J Pediatr 2008[Jun]; 75 (6): 632-4 PMID18759094show ga
  • An offspring of marriage between two first cousins presented with atonic seizures developed on the 20(th) day of life. The physical examination of the case was normal. In laboratory results, Ca(+2) level was 5.7 mg/dl, Mg(+2): 0.4 mg/dl (1,3-2,1), PTH: 28.4 pg/ml (12-92), and P-: 4.5 mg/dl. The case was diagnosed as hypomagnesemia with secondary hypocalcemia (HSH) and TRPM6 gene mutation analysis revealed a homozygote mutation of E157X.
  • |Calcium/metabolism[MESH]
  • |DNA Mutational Analysis[MESH]
  • |Humans[MESH]
  • |Hypocalcemia/etiology/*genetics/metabolism[MESH]
  • |Infant[MESH]
  • |Magnesium Deficiency/complications/*genetics/metabolism[MESH]
  • |Magnesium/metabolism[MESH]
  • |Male[MESH]
  • |Pedigree[MESH]
  • |Seizures[MESH]
  • |Sequence Analysis, DNA[MESH]


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