A 22-year-old Woman with Hypocalcemia and Clinical Features of Albright Hereditary Osteodystrophy Diagnosed with Sporadic Pseudohypoparathyroidism Type Ib Using a Methylation-specific Multiplex Ligation-dependent Probe Amplification Assay

Zeniya Satoshi; Yuno Akiko; Watanabe Takayuki; Usui Takeshi; Moriki Yurie; Uno Yoshitaka; Miake Hirotomo

首页> 外文期刊>Internal medicine. >A 22-year-old Woman with Hypocalcemia and Clinical Features of Albright Hereditary Osteodystrophy Diagnosed with Sporadic Pseudohypoparathyroidism Type Ib Using a Methylation-specific Multiplex Ligation-dependent Probe Amplification Assay

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A 22-year-old Woman with Hypocalcemia and Clinical Features of Albright Hereditary Osteodystrophy Diagnosed with Sporadic Pseudohypoparathyroidism Type Ib Using a Methylation-specific Multiplex Ligation-dependent Probe Amplification Assay

机译：使用甲基化特异性多重连接依赖性探针扩增法诊断患有低钙血症和奥尔布赖特遗传性骨营养不良的临床特征的22岁女性，诊断为散发性假性甲状旁腺功能减退Ib型。

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A 22-year-old woman presented to us with seizures of a few minutes duration. She had clinical features of Albright hereditary osteodystrophy (AHO), including hypocalcemia, hyperphosphatemia and resistance to parathyroid hormone. Genetic testing revealed a sporadic form of pseudohypoparathyroidism type Ib (PHP-Ib). This is the first Japanese case involving overlap between pseudohypoparathyroidism type Ia (PHP Ia) associated with AHO and PHP Ib. It is important to perform both DNA sequencing and methylation status analyses in cases of suspected PHP in patients with signs of AHO.

机译：一名22岁的妇女向我们展示了几分钟的癫痫发作。她具有Albright遗传性骨营养不良（AHO）的临床特征，包括低血钙，高磷血症和对甲状旁腺激素的抵抗力。基因测试显示偶发性甲状旁腺功能减退型Ib（PHP-Ib）。这是日本首例涉及与AHO相关的假性甲状旁腺功能低下的Ia（PHP Ia）与PHP Ib重叠的病例。对于怀疑患有AHO体征的PHP患者，同时进行DNA测序和甲基化状态分析非常重要。

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来源
《Internal medicine.》 |2014年第9期|共8页
作者
Zeniya Satoshi; Yuno Akiko; Watanabe Takayuki; Usui Takeshi; Moriki Yurie; Uno Yoshitaka; Miake Hirotomo;
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正文语种 eng
中图分类内科学;
关键词
seizure; pseudohypoparathyroidism; hypocalcemia; Albright hereditary osteodystrophy; MS-MLPA;

机译：癫痫发作;假性甲状旁腺功能减退症;低钙血症;奥尔布赖特遗传性骨营养不良;MS-MLPA;

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1. A 22-year-old Woman with Hypocalcemia and Clinical Features of Albright Hereditary Osteodystrophy Diagnosed with Sporadic Pseudohypoparathyroidism Type Ib Using a Methylation-specific Multiplex Ligation-dependent Probe Amplification Assay [J] . Zeniya Satoshi, Yuno Akiko, Watanabe Takayuki, Internal medicine. . 2014,第9期

机译：使用甲基化特异性多重连接依赖性探针扩增法诊断患有低钙血症和奥尔布赖特遗传性骨营养不良的临床特征的22岁女性，诊断为散发性假性甲状旁腺功能减退Ib型。
2. A 22-year-old Woman with Hypocalcemia and Clinical Features of Albright Hereditary Osteodystrophy Diagnosed with Sporadic Pseudohypoparathyroidism Type Ib Using a Methylation-specific Multiplex Ligation-dependent Probe Amplification Assay [J] . Satoshi Zeniya, Akiko Yuno, Takayuki Watanabe, Internal medicine. . 2014,第9期

机译：使用甲基化特异性多重连接依赖性探针扩增法诊断患有低钙血症和奥尔布赖特遗传性骨营养不良的临床特征的22岁女性，诊断为散发性假性甲状旁腺功能减退Ib型。
3. A 22-year-old Woman with Hypocalcemia and Clinical Features of Albright Hereditary Osteodystrophy Diagnosed with Sporadic Pseudohypoparathyroidism Type Ib Using a Methylation-specific Multiplex Ligation-dependent Probe Amplification Assay [J] . Satoshi Zeniya, Akiko Yuno, Takayuki Watanabe, Internal medicine. . 2014,第9期

机译：使用甲基化特异性多重连接依赖性探针扩增法诊断患有低钙血症和奥尔布赖特遗传性骨营养不良的临床特征的22岁女性，诊断为散发性假性甲状旁腺功能减退Ib型。
4. Altered Methylation at MicroRNA-Associated CpG Islands in Hereditary and Sporadic Carcinomas: A Methylation-Specific Multiplex Ligation-Dependent Probe Amplification (MS-MLPA)-Based Approach [O] . Walter Pavicic, Esa Perkiö, Sippy Kaur, 2011

机译：在遗传性和散发性癌症中与MicroRNA相关的CpG岛的甲基化改变：基于甲基化的多重连接依赖探针扩增（MS-MLPA）为基础的方法。
5. Genetic and epigenetic states of the GNAS complex in pseudohypoparathyroidism type Ib using methylation-specific multiplex ligation-dependent probe amplification assay [O] . Akiko Yuno, Takeshi Usui, Yuko Yambe, 2013

机译：使用甲基化特异性多重连接依赖性探针扩增测定伪致症状功能亢进型IB中GNAS复合物的遗传和表观遗传状态

A 22-year-old Woman with Hypocalcemia and Clinical Features of Albright Hereditary Osteodystrophy Diagnosed with Sporadic Pseudohypoparathyroidism Type Ib Using a Methylation-specific Multiplex Ligation-dependent Probe Amplification Assay

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