| 1 |
Ghogare AS , Agrawal SR , Patil PS , Vankar GK . Obsessive compulsive disorder with psychotic features as neuropsychiatric manifestation of Fahr's disease. Ann Indian Psychiatry, 2020, 4: 90- 93.
doi: 10.4103/aip.aip_65_19
|
| 2 |
Perugula ML , Lippmann S . Fahr's disease or Fahr's syndrome?. Innov Clin Neurosci, 2016, 13: 45- 46.
|
| 3 |
Ahad MA , Kamal SM , Salma U . FAHR'S syndrome: a rare neurodegenerative disorder. Med Today, 2017, 29: 39- 41.
doi: 10.3329/medtoday.v29i1.33860
|
| 4 |
Saleem S , Aslam HM , Anwar M , Anwar S , Saleem M , Saleem A , Rehmani MA . Fahr's syndrome: literature review of current evidence. Orphanet J Rare Dis, 2013, 8: 156.
doi: 10.1186/1750-1172-8-156
|
| 5 |
Chong HM. Genotype and phenotypic characteristics of pseudohypoparathyroidism and the relationship with iPPSD[D]. Shijiazhuang: Hebei Medical University, 2021.
|
|
崇禾萌. 假性甲状旁腺功能减退症基因与表型特点及与iPPSD对应关系[D]. 石家庄: 河北医科大学, 2021.
|
| 6 |
Osteoporosis and Bone Mineral Salt Disease Branch, Chinese Medical Association , Metabolic Bone Disease Group, Endocrinology Branch, Chinese Medical Association . Guidelines for clinical diagnosis and treatment of hypoparathyroidism. Zhonghua Gu Zhi Shu Song He Gu Kuang Yan Ji Bing Za Zhi, 2018, 11: 323- 337.
URL
|
|
中华医学会骨质疏松和骨矿盐疾病分会, 中华医学会内分泌分会代谢性骨病学组. 甲状旁腺功能减退症临床诊疗指南. 中华骨质疏松和骨矿盐疾病杂志, 2018, 11: 323- 337.
URL
|
| 7 |
Yavropoulou MP, Chronopoulos E, Trovas G, Avramidis E, Elli FM, Mantovani G, Zebekakis P, Yovos JG. Hypercalcitoninaemia in pseudohypoparathyroidism type 1A and type 1B[J]. Endocrinol Diabetes Metab Case Rep, 2019[. Epub ahead of print]
|
| 8 |
Jüppner H . Molecular definition of pseudohypoparathyroidism variants. J Clin Endocrinol Metab, 2021, 106: 1541- 1552.
doi: 10.1210/clinem/dgab060
|
| 9 |
Mazoni L , Apicella M , Saponaro F , Mantovani G , Elli FM , Borsari S , Pardi E , Piaggi P , Marcocci C , Cetani F . Pseudohypoparathyroidism: focus on cerebral and renal calcifications. J Clin Endocrinol Metab, 2021, 106: e3005- 3020.
doi: 10.1210/clinem/dgab208
|
| 10 |
Long XD , Xiong J , Mo ZH , Dong CS , Jin P . Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia. BMC Med Genet, 2018, 19: 132.
doi: 10.1186/s12881-018-0648-z
|
| 11 |
Kawashima S , Yuno A , Sano S , Nakamura A , Ishiwata K , Kawasaki T , Hosomichi K , Nakabayashi K , Akutsu H , Saitsu H , Fukami M , Usui T , Ogata T , Kagami M . Familial pseudohypoparathyroidism type Ⅰ B associated with an SVA retrotransposon insertion in the GNAS locus. J Bone Miner Res, 2022, 37: 1850- 1859.
|
| 12 |
Miller DE , Hanna P , Galey M , Reyes M , Linglart A , Eichler EE , Jüppner H . Targeted long - read sequencing identifies a retrotransposon insertion as a cause of altered GNAS exon A/B methylation in a family with autosomal dominant pseudohypoparathyroidism type 1b (PHP1B). J Bone Miner Res, 2022, 37: 1711- 1719.
|
| 13 |
Mantovani G , Spada A , Elli FM . Pseudohypoparathyroidism and Gsα - cAMP - linked disorders: current view and open issues. Nat Rev Endocrinol, 2016, 12: 347- 356.
doi: 10.1038/nrendo.2016.52
|
| 14 |
Li YL , Han T , Hong F . Cutaneous nodules and a novel GNAS mutation in a Chinese boy with pseudohypoparathyroidism type Ⅰ a: a case report and review of literature. World J Clin Cases, 2020, 8: 587- 593.
doi: 10.12998/wjcc.v8.i3.587
|
| 15 |
Zavatta G , Clarke BL . Basal ganglia calcification in hypoparathyroidism and pseudohypoparathyroidism: local and systemic metabolic mechanisms. J Endocrinol Invest, 2021, 44: 245- 253.
|
| 16 |
Lü Q , Qin J . Progress of diagnosis and clinical management of pseudohypoparathyroidism. Zhonghua Shi Yong Er Ke Lin Chuang Za Zhi, 2015, 30: 1278- 1280.
URL
|
|
吕秋, 秦炯. 假性甲状旁腺功能减退症的诊断与治疗研究进展. 中华实用儿科临床杂志, 2015, 30: 1278- 1280.
URL
|
| 17 |
Ma YJ , Liu P , Yuan Y , Lu HB , Zhang WB , Fu LJ , Li LP , Liu J , Zhang YY , Peng HF , Jiang HW . Clinical and gene methylation analysis of type 1b pseudohypoparathyroidism. Zhonghua Nei Fen Mi Dai Xie Za Zhi, 2019, 35: 1001- 1005.
|
|
马瑜瑾, 刘鹏, 袁园, 逯海波, 张文博, 付留俊, 李利平, 刘婕, 张颖裕, 彭慧芳, 姜宏卫. 1b型假性甲状旁腺功能减退症临床及基因甲基化分析. 中华内分泌代谢杂志, 2019, 35: 1001- 1005.
|
| 18 |
Zhang C , Zhou X , Feng M , Yue W . Paroxysmal dyskinesia and epilepsy in pseudohypoparathyroidism. Mol Genet Genomic Med, 2020, 8: e1423.
|
| 19 |
Kobayashi Y , Tsuyuzaki J , Koizumi Y . Pseudohypoparathyroidism causing multiple brain calcifications. Intern Med, 2018, 57: 153- 154.
|
| 20 |
Kim YS , Park J , Park Y , Hwang K , Koo DL , Kim D , Seo DW . Intracranial cortical calcifications in a focal epilepsy patient with pseudohypoparathyroidism. J Epilepsy Res, 2016, 6: 31- 35.
|
| 21 |
Wu J , Tarabishy B , Hu J , Miao Y , Cai Z , Xuan Y , Behen M , Li M , Ye Y , Shoskey R , Haacke EM , Juhász C . Cortical calcification in Sturge- Weber syndrome on MRI-SWI: relation to brain perfusion status and seizure severity. J Magn Reson Imaging, 2011, 34: 791- 798.
|
| 22 |
Germain-Lee EL . Management of pseudohypoparathyroidism. Curr Opin Pediatr, 2019, 31: 537- 549.
|