Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report

被引：0

作者：

Joanna Jaworska

Aleksandra Marach-Mocarska

Dorota Sands

机构：

[1] Institute of Mother and Child,

[2] Cystic Fibrosis Department,undefined

[3] Children’s Memorial Health Institute,undefined

[4] Department of Gastroenterology,undefined

[5] Hepatology,undefined

[6] Feeding Disorders and Pediatrics,undefined

来源：

BMC Pediatrics | / 20卷

关键词：

Cystic fibrosis; CF; Metabolic acidosis; Case report; Genetic testing;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

共 12 条

[1]

Munck A(2015)Cystic fibrosis screen positive, inconclusive diagnosis (CFSPID): a new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening J Cyst Fibros 14 706-713

[2]

Mayel SJ(2014)CFTR mutations spectrum and the efficiency of molecular diagnostics in polish cystic fibrosis patients PLoS ONE 9 e89094-undefined

[3]

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