Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients

Kroener Carolin; Reu Simone; Teusch Veronika; Schams Andrea; Grimmelt Ann-Christin; Barker Michael; Brand Joerg; Gappa Monika; Kitz Richard; Kramer Boris W.; Lange Lars; Lau Susanne; Pfannenstiel Claus; Proesmans Marijke; Seidenberg Juergen; Sismanlar Tugba; Aslan Ayse Tana; Werner Claudius; Zielen Stefan; Zarbock Ralf; Brasch Frank; Lohse Peter; Griese Matthias

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Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients

机译：单靠基因型不能预测儿童患者SFTPC缺乏的临床过程

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Patients with interstitial lung disease due to surfactant protein C (SFTPC) mutations are rare and not well characterised.

机译：由于表面活性剂蛋白C（SFTPC）突变而导致间质性肺疾病的患者很少，并且没有很好的特征。

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《The European respiratory journal : 》 |2015年第1期| 共10页
作者
Kroener Carolin; Reu Simone; Teusch Veronika; Schams Andrea; Grimmelt Ann-Christin; Barker Michael; Brand Joerg; Gappa Monika; Kitz Richard; Kramer Boris W.; Lange Lars; Lau Susanne; Pfannenstiel Claus; Proesmans Marijke; Seidenberg Juergen; Sismanlar Tugba; Aslan Ayse Tana; Werner Claudius; Zielen Stefan; Zarbock Ralf; Brasch Frank; Lohse Peter; Griese Matthias;
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正文语种 eng
中图分类呼吸系及胸部疾病 ;
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1. Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients [J] . Kroener Carolin, Reu Simone, Teusch Veronika, The European respiratory journal : . 2015 ,第1期

机译：单靠基因型不能预测儿童患者SFTPC缺乏的临床过程
2. Clinical manifestations in patients with PI*MMMalton genotypes. A matter still unsolved in alpha‐1 antitrypsin deficiency [J] . Marina Aiello, Alberto Fantin, Chiara Longo, Respirology Case Reports . 2020 ,第3期

机译：PI * MMMALTON基因型患者临床表现。仍然在α-1抗核缺乏症中仍未溶化
3. Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency. [J] . Karacic I, Meili D, Sarnavka V Molecular genetics and metabolism . 2009 ,第3期

机译：克罗地亚患有苯丙氨酸羟化酶（PAH）缺乏症的患者的基因型预测的四氢生物蝶呤（BH4）反应性和分子遗传学。
4. CHEMOMETRIC OPTIMIZATION OF UPLC-MS/MS ASSAY FOR CLINICAL DIAGNOSIS AND PHARMACOTHERAPY MONITORING OF PATIENTS WITH APRT DEFICIENCY [C] . Margret Thorsteinsdottir, Unnur Arna Thorsteinsdottir, Finnur Freyr Eiriksson, International Mass Spectrometry Conference . 2018

机译：UPLC-MS / MS测定的化学计量优化对于APRT缺乏患者的临床诊断和药物疗法监测
5. Clinical Outcomes in the Management of Iron Deficiency Anemia in Patients with Inflammatory Bowel Disease [D] . Manokaran, Krishanth. 2018

机译：炎症性肠病患者缺铁性贫血管理中的临床结果
6. Clinical manifestations in patients with PI*MMMalton genotypes. A matter still unsolved in alpha‐1 antitrypsin deficiency [O] . Marina Aiello, Alberto Fantin, Chiara Longo, 2020

机译：PI * MMMalton基因型患者的临床表现。 α-1抗胰蛋白酶缺乏症尚未解决的问题
7. Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients [O] . Kroener, Carolin, Reu, Simone, Teusch, Veronika, 2015

机译：单靠基因型不能预测儿童患者SFTPC缺乏的临床过程

Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients

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