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假性甲状旁腺功能减退症误诊为原发性癫痫一例报道及文献复习 被引量:3

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摘要 1似性甲状旁腺功能减退症(pseudohypoparathyroidism.PHP)是一种罕见的染色体显性或隐性遗传疾病,男女发病率为2:l,多数患者首次发病在10岁以内。
出处 《中华神经医学杂志》 CAS CSCD 北大核心 2014年第2期200-201,共2页 Chinese Journal of Neuromedicine
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  • 1Rolla AR, Rodriguez-Gutierrez R. Images in clinical medicine. Albright's hereditary osteodystrophy[J]. N Engl J Med, 2012, 367 (26): 25-27.
  • 2Maupetit-Mehouas S, Azzi S, Steunou V, et al. Simultaneous hyper-and hypomethylation at Imprinted Loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparafllyroidism type lb[J]. Hum Mutat, 2013, 34(8): 1172-1180.
  • 3E10tmani H, Lahlou I, Raji L, et al. Striatopallidodentate calcinosis, hypoparathyroidism and neurological features: A case series study[J]. Rev Neurol (Paris), 2013, 169(6): 495-501.
  • 4Islam MN, Hoque MA, Kader SA. Bilateral, symmetrical and extensive cerebral calcification in pseudohypoparathyroidism[J]. Mymensingh Med J, 2011, 20(4): 728-733.
  • 5Ding C, Seneviratne U. An abnormal electrocardiogram, cerebral calcification and seizures. Pseudohypoparathyroidism [ J ]. J Clin Neurosci, 2013, 20(3): 452-479.
  • 6Shoemaker AH, Lomenick JP, Saville BR, et al. Energy expenditure in obese children with pseudohypoparathyroidism type la[J]. Int J Obes (Lond), 2013, 37(8): 1147-1153.
  • 7Levine MA. An update on the clinical and molecular characteristics ofpseudohypoparathyroidism [J]. Curr Opin Endocrinol Diabetes Obes, 2012, 19(6): 443-451.
  • 8Alves C, Sampaio S, Barbieri AM, et al. Pseudohypoparathyroidism type Ia: a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism [J]. J Pediatr Endocrinol Metab, 2013, 26(5): 557-560.

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