Targeted screening for detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) using dried blood spot (DBS)

Chamova T.; Sinigerska I.; Gospodinova M.; Bojinova V.; Guergueltcheva V.; Genov K.; Staykov I.; Dimitrova H.; Bogdanova D.; Kaprelyan A.; Todorov T.; Todorova A.; Tourney I.

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Targeted screening for detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) using dried blood spot (DBS)

机译：使用干血斑（DBS）进行有针对性的筛查，以筛查未分类肢带肌营养不良症（LGMD）患者的Pompe疾病

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《Neuromuscular disorders: NMD》 |2016年第2期|共2页
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Chamova T.; Sinigerska I.; Gospodinova M.; Bojinova V.; Guergueltcheva V.; Genov K.; Staykov I.; Dimitrova H.; Bogdanova D.; Kaprelyan A.; Todorov T.; Todorova A.; Tourney I.;
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正文语种 eng
中图分类神经病学;
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1. Targeted screening for detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) using dried blood spot (DBS) [J] . Chamova T., Sinigerska I., Gospodinova M., Neuromuscular disorders: NMD . 2016,第Suppla2期

机译：使用干血斑（DBS）进行有针对性的筛查，以筛查未分类肢带肌营养不良症（LGMD）患者的Pompe疾病
2. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort [J] . Gutierrez-Rivas E., Bautista J., Vilchez J. J., Neuromuscular disorders: NMD . 2015,第7期

机译：使用干血针对未分类肢带肌营养不良或无症状高CK血症的患者进行有针对性的筛查，以检测庞培病：西班牙人群
3. Spinal Muscular Atrophy Patient Detection and Carrier Screening Using Dried Blood Spots on Filter Paper [J] . Nur Imma Fatimah Harahap, Indra Sari Kusuma Harahap, Richard Hideki Kaszynski, Genetic testing and molecular biomarkers . 2012,第2期

机译：使用滤纸上的干血斑对脊髓性肌萎缩症患者进行检测和载体筛查
4. Pre-Cut Dried Blood Spot (PCDBS): An Alternative to Dried Blood Spot (DBS) Technique to Overcome Hematocrit Impact [C] . Nikolay Youhnovski, Annik Bergeron, Catherine Dicaire, American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics . 2011

机译：预切割干血斑（PCDB）：替代干血斑（DBS）技术克服血细胞比容的影响
5. Modeling heart disease of patients with muscular dystrophy using induced pluripotent stem cells [D] . Guan, Xuan. 2015

机译：诱导多能干细胞肌营养不良患者患者的患者患者
6. Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes. [O] . I Stec, W Kress, G Meng, 1995

机译：散发性肌营养不良男性中严重常染色体隐性隐性四肢带状肌肉营养不良（LGMD2CLGMD2D）的估计：一项对415甘菊的研究。
7. Targeted screening for detection of Pompe disease in patients with unclassified Limb-Girdle Muscular Dystrophy (lGMD) using Dried-Blood Spot (DBS) test: Bulgarian experience [O] . T. Chamova, A. Taneva, I. Sinigerska, 2019

机译：靶向筛选用于使用干血斑（DBS）试验（DBS）试验：保加利亚体验的患者患者患者Pompe病

Targeted screening for detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) using dried blood spot (DBS)

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