SCN4A基因突变导致的严重新生儿发作性喉痉挛(SNEL)是婴儿期阵发性吸气性啰音伴发绀的罕见鉴别诊断。

IF 1.2 4区 医学 Q3 PEDIATRICS Klinische Padiatrie Pub Date : 2024-10-28 DOI:10.1055/a-2423-8849
Julia Westhoff, Rahel Schuler, Lutz Nährlich, Andreas Hahn
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Severe Neonatal Episodic Laryngospasm (SNEL) due to Mutation in the SCN4A Gene as a Rare Differential Diagnosis in Paroxysmal Inspiratory Stridor with Cyanosis in Infancy.
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来源期刊
Klinische Padiatrie
Klinische Padiatrie 医学-小儿科
CiteScore
1.10
自引率
0.00%
发文量
135
审稿时长
6-12 weeks
期刊介绍: Das Forum für wissenschaftliche Information in der Kinderheilkunde ausgewählte Originalarbeiten aus allen Bereichen der Pädiatrie Visite: Ihr Forum für interessante Krankengeschichten und außergewöhnliche Kasuistiken aktuelle Fortschritte in Diagnostik und Therapie jährliche Schwerpunkthefte: Ergebnisse der pädiatrischen Onkologie plus Medizin und Markt topaktuelle Informationen aus der Industrie
期刊最新文献
Severe Neonatal Episodic Laryngospasm (SNEL) due to Mutation in the SCN4A Gene as a Rare Differential Diagnosis in Paroxysmal Inspiratory Stridor with Cyanosis in Infancy. SGLT2 Inhibition: A New Glimmer of Hope to Slow Chronic Kidney Disease Progression in Children? Cystic Echinococcosis in Paediatric Refugees: A Case Series. Finding of a Homozygous SLC26A3 Mutation in a German Newborn with Congenital Chloride Diarrhea Presenting with Polyhydramnios and Dilated Bowel Loops. Urethral Catheterization as a cause of Kidney Failure after Successfully Treated Hemolytic Uremic Syndrome.
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