Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation - Fuwa, Kazumasa; Hosono, Shigeharu; Nagano, Nobuhiko; Munakata, Shun; Fukamachi, Ritsuko; Okada, Tomoo; Takahashi, Shigeru; Takahashi, Shori; Sato, Naoyuki; Nakayama, Tomohiro (Pediatrics international, 2015)
Keywords: Adult; butyrate; Chloride-Bicarbonate Antiporters - genetics; Chloride-Bicarbonate Antiporters - metabolism; congenital chloride diarrhea; Congenital diseases; Diarrhea; Diarrhea - congenital; Diarrhea - diagnosis; Diarrhea - genetics; Diarrhea - metabolism; DNA - genetics; DNA Mutational Analysis; Female; Humans; Infant, Newborn; Magnetic Resonance Imaging; Male; Metabolism, Inborn Errors - diagnosis; Metabolism, Inborn Errors - genetics; Metabolism, Inborn Errors - metabolism; Mutation; Mutation, Missense; Pediatrics; Pregnancy; Prenatal Diagnosis; proton pump inhibitor; SLC26A3 mutation; Transcription Factors; SLC26A3 mutation; butyrate; congenital chloride diarrhea; proton pump inhibitor