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Defective growth hormone secretion in children with pycnodysostosis and improved linear growth after growth hormone treatment.致密性骨发育不全患儿生长激素分泌缺陷及生长激素治疗后线性生长改善
Arch Dis Child. 1996 Sep;75(3):242-4. doi: 10.1136/adc.75.3.242.
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Pycnodysostosis: clinical, radiologic, and endocrine evaluation and linear growth after growth hormone therapy.致密性成骨不全症：生长激素治疗后的临床、放射学及内分泌评估与线性生长
Metabolism. 2001 Aug;50(8):905-11. doi: 10.1053/meta.2001.24924.
3
Spontaneous and provoked growth hormone (GH) secretion and insulin-like growth factor I (IGF-I) concentration in patients with beta thalassaemia and delayed growth.β地中海贫血和生长发育迟缓患者的自发性和激发性生长激素（GH）分泌及胰岛素样生长因子I（IGF-I）浓度
J Trop Pediatr. 1999 Dec;45(6):327-37. doi: 10.1093/tropej/45.6.327.
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Effect of six months of growth hormone therapy, followed by treatment withdrawal in short children with normal quantitative indexes of growth hormone secretion.生长激素分泌定量指标正常的矮小儿童接受六个月生长激素治疗后停药的效果。
J Pediatr. 1996 Sep;129(3):456-8. doi: 10.1016/s0022-3476(96)70083-5.
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Is growth hormone secretion related to growth?
Acta Paediatr Scand Suppl. 1989;362:32-5. doi: 10.1111/j.1651-2227.1989.tb11305.x.
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Growth, short stature, and the use of growth hormone: considerations for the practicing pediatrician--an update.
Curr Probl Pediatr. 1997 Jan;27(1):14-40. doi: 10.1016/s0045-9380(97)80007-2.
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A case of pycnodysostosis with growth hormone deficiency.一例伴有生长激素缺乏的致密性骨发育不全症。
Clin Genet. 1996 Nov;50(5):422-5. doi: 10.1111/j.1399-0004.1996.tb02400.x.
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Insulin-like growth factor binding protein-3 generation: an index of growth hormone insensitivity.胰岛素样生长因子结合蛋白-3生成：生长激素不敏感的一个指标。
Pediatr Res. 1996 May;39(5):849-55. doi: 10.1203/00006450-199605000-00018.
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Endocrine aspects of growth deficiency in OI.成骨不全症生长缺陷的内分泌方面
Connect Tissue Res. 1995;31(4):S55-7. doi: 10.3109/03008209509116835.
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Use of insulin-like growth factor-binding protein-2 (IGFBP-2), IGFBP-3, and IGF-I for assessing growth hormone status in short children.使用胰岛素样生长因子结合蛋白-2（IGFBP-2）、IGFBP-3和IGF-I评估矮小儿童的生长激素状态。
J Clin Endocrinol Metab. 1993 Nov;77(5):1294-9. doi: 10.1210/jcem.77.5.7521346.
引用本文的文献
1
Effects and Safety of Growth Hormone Treatment in Six Children with Pycnodysostosis.生长激素治疗六例致密性骨发育不全患儿的疗效与安全性
Horm Res Paediatr. 2024 Jun 5:1-8. doi: 10.1159/000539574.
2
A First-Case Report of Pycnodysostosis in an Omani Boy.一名阿曼男孩患致密性骨发育不全的首例报告。
J Pediatr Genet. 2020 Aug 4;11(1):42-46. doi: 10.1055/s-0040-1714364. eCollection 2022 Mar.
3
Cathepsin K Inhibitors for Osteoporosis: Biology, Potential Clinical Utility, and Lessons Learned.组织蛋白酶 K 抑制剂治疗骨质疏松症：生物学、潜在临床应用及经验教训。
Endocr Rev. 2017 Aug 1;38(4):325-350. doi: 10.1210/er.2015-1114.
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Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings.一系列致密性骨发育不全患者的分子和临床分析揭示了一些不常见的表型特征。
Int J Clin Exp Med. 2014 Nov 15;7(11):3915-23. eCollection 2014.
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Effect of Growth Hormone treatment on Height Velocity of Children with Pycnodysotosis.生长激素治疗对致密性骨发育不全患儿身高增长速度的影响。
Iran J Pediatr. 2014 Apr;24(2):161-5.
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A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosis.一名患有骨折和畸形特征的儿童：需考虑致密性骨发育不全和颅缝早闭。
BMJ Case Rep. 2012 Nov 21;2012:bcr2012006930. doi: 10.1136/bcr-2012-006930.
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Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011.1996 年至 2011 年，成骨不全症的临床和动物研究结果以及组织蛋白酶 K 的基因突变。
Orphanet J Rare Dis. 2011 May 10;6:20. doi: 10.1186/1750-1172-6-20.
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High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.组织蛋白酶K前肽有新突变的致密性成骨不全患者的高骨矿物质密度
Osteoporos Int. 2007 May;18(5):659-69. doi: 10.1007/s00198-006-0311-y. Epub 2007 Jan 6.
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Pyknodysostosis: visceral manifestations and simian crease.致密性骨发育不全：内脏表现与猿线
Indian J Pediatr. 2004 May;71(5):453-5. doi: 10.1007/BF02725641.
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THE MALADY OF TOULOUSE-LAUTREC.图卢兹-洛特雷克的病症
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PYCNODYSOSTOSIS.致密性骨发育不全
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[Pyknodysostosis. Classical and unusual aspects. Apropos of 7 cases].[致密性骨发育不全。经典及非典型表现。附7例报告]
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Pycnodysostosis.致密性骨发育不全
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Pycnodysostosis. Clinical and genetic considerations.
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Pycnodysostosis. Six cases with new symptoms and an autopsy.
Acta Paediatr Scand. 1974 May;63(3):437-42. doi: 10.1111/j.1651-2227.1974.tb04824.x.
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Pycnodysostosis in Japan: report of six cases and a review of Japaneses literature.日本的致密性成骨不全症：6例报告及日本文献综述
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