Volume 19 Issue 9
Sep.  2021
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Article Contents

doi: 10.16766/j.cnki.issn.1674-4152.002123
  • Received Date: 2020-04-20
    Available Online: 2022-02-15
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  • [1]
    FERNÁNDEZ-REBOLLO E, LECUMBERRI B, GAZTAMBIDE S, et al. Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism[J]. J Clin Endocrinol Metab, 2013, 98(5): E996-1006. doi: 10.1210/jc.2012-4164
    [2]
    MIYAKAWA Y, TAKASAWA K, MATSUBARA Y, et al. Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood[J]. Endocr J, 2019, 66(3): 215-221. doi: 10.1507/endocrj.EJ18-0326
    [3]
    DEL MONTE P, CUTTICA C M, MARUGO A, et al. Unrecognized pseudohypoparathyroidism type 1A as a cause of hypocalcemia and seizures in a 64-year-old woman[J]. Case Rep Endocrinol, 2019, 2019: 8456239. http://downloads.hindawi.com/journals/crie/2019/8456239.pdf
    [4]
    KODO K, MAEDA H, MORIMOTO H, et al. A case of pseudohypoparathyroidism type Ia with a novel frameshift mutation in the GNAS gene: Early diagnosis of osteoma cutis by skin biopsy[J]. Clin Pediatr Endocrinol, 2019, 28(1): 15-18. doi: 10.1297/cpe.28.15
    [5]
    沈珉, 柳林, 刘阳, 等. GNAS基因新生突变致假性甲状旁腺功能减退症Ⅰa型1例[J]. 临床儿科杂志, 2017, 35(8): 601-604. doi: 10.3969/j.issn.1000-3606.2017.08.010
    [6]
    UNDERBJERG L, SIKJAER T, MOSEKILDE L, et al. Pseudohypoparathyroidism-epidemiology, mortality and risk of complications[J]. Clin Endocrinol(Oxf), 2016, 84(6): 904-911. doi: 10.1111/cen.12948
    [7]
    DAVID K, STINKENS K, DECALLONNE B. Pseudohypoparathyroidism: A missed window of treatment opportunity?[J]. Acta Neurol Belg, 2020. DOI: 10.1007/s13760-019-01268-3.
    [8]
    LINGLART A, LEVINE M A, JVPPNER H. Pseudohypoparathyroidism[J]. Endocrinol Metab Clin North Am, 2018, 47(4): 865-888. doi: 10.1016/j.ecl.2018.07.011
    [9]
    HEJLESEN J, UNDERBJERG L, GJØRUP H, et al. Dental anomalies and orthodontic characteristics in patients with pseudohypoparathyroidism[J]. BMC Oral Health, 2019, 20(1): 2. http://www.ncbi.nlm.nih.gov/pubmed/31892351
    [10]
    HAN S R, LEE Y A, SHIN C H, et al. Clinical and molecular characteristics of GNAS inactivation disorders observed in 18 korean patients[J]. Exp Clin Endocrinol Diabetes, 2021, 129(2): 118-125. doi: 10.1055/a-1001-3575
    [11]
    LEMOS M C, THAKKER R V. GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders[J]. Hum Mutat, 2015, 36(1): 11-19. doi: 10.1002/humu.22696
    [12]
    MANTOVANI G, BASTEPE M, MONK D, et al. Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement[J]. Nat Rev Endocrinol, 2018, 14(8): 476-500. doi: 10.1038/s41574-018-0042-0
    [13]
    SINGLA M, GARG G, GUPTA A. Pseudohypoparathyroidism type 1a[J]. QJM, 2018, 111(5): 331-333. doi: 10.1093/qjmed/hcy038
    [14]
    DE SANCTIS L, GIACHERO F, MANTOVANI G, et al. Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption[J]. Ital J Pediatr, 2016, 42(1): 101. doi: 10.1186/s13052-016-0310-3
    [15]
    FASIH A. Pseudohypoparathyroidism and cardiomyopathy: A case report with a new perspective on the cardiovascular-endocrine axis with respect to calcium homeostasis[J]. Eur J Case Rep Intern Med, 2019, 6(2): 000993.
    [16]
    GERMAIN-LEE E L. Management of pseudohypoparathyroidism[J]. Curr Opin Pediatr, 2019, 31(4): 537-549. doi: 10.1097/MOP.0000000000000783
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