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Article

Comprehensive Targeted Sequencing Identifies Monogenic Disorders in Patients With Early-onset Refractory Diarrhea.

Journal of pediatric gastroenterology and nutrition - 1 Sept 2020

Uchida Takashi, Suzuki Tasuku, Kikuchi Atsuo, Kakuta Fumihiko, Ishige Takashi, Nakayama Yoshiko, Kanegane Hirokazu, Etani Yuri, Mizuochi Tatsuki, Fujiwara Shin-Ichi, Nambu Ryusuke, Suyama Kazuhide, Tanaka Masanori, Yoden Atsushi, Abukawa Daiki, Sasahara Yoji, Kure Shigeo

Abstract excerpt

OBJECTIVES: Causes of early-onset refractory diarrhea include exudative diarrhea associated with very early-onset inflammatory bowel diseases, osmotic or secretory diarrhea, and protein-losing enteropathy. Monogenic disorders are included in these diseases, yet a comprehensive genetic analysis has not been fully established. METHODS: We established targeted gene panels covering all responsible genes for...

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PMID: 32487952
DOI: 10.1097/MPG.0000000000002796

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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