Congenital chloride diarrhea in a Japanese neonate with a novel SLC26A3 mutation
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| Published in | Pediatrics international Vol. 62; no. 11; pp. 1294 - 1296 |
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| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Australia
Blackwell Publishing Ltd
01.11.2020
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| Subjects | |
| Online Access | Get full text |
| ISSN | 1328-8067 1442-200X 1442-200X |
| DOI | 10.1111/ped.14333 |
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| Author | Mizuochi, Tatsuki Arai, Katsuhiro Yamamoto, Ken Konishi, Ken‐ichiro Takeuchi, Ichiro |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/33124714$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1038/gim.2015.30 10.1016/j.jpeds.2019.07.039 10.12659/AJCR.903433 10.1172/JCI108094 10.1016/0002-9378(74)90093-3 |
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| Copyright | 2020 Japan Pediatric Society |
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| References | 2019; 214 1975; 56 1974; 119 2015; 17 2017; 18 e_1_2_5_4_1 e_1_2_5_3_1 e_1_2_5_2_1 e_1_2_5_6_1 e_1_2_5_5_1 |
| References_xml | – volume: 119 start-page: 798 year: 1974 end-page: 810 article-title: Composition of the amniotic fluid and maternal serum in pregnancy publication-title: Am. J. Obstet. Gynecol. – volume: 214 start-page: 151 year: 2019 end-page: 7.e6 article-title: Clinical features, molecular genetics, and long‐term outcome in congenital chloride diarrhea: a nationwide study in Japan publication-title: J. Pediatr. – volume: 17 start-page: 405 year: 2015 end-page: 24 article-title: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology publication-title: Genet. Med. – volume: 56 start-page: 302 year: 1975 end-page: 10 article-title: Colonic electrolyte transport in health and in congenital chloride diarrhea publication-title: J. Clin. Invest. – volume: 18 start-page: 707 year: 2017 end-page: 13 article-title: Congenital chloride diarrhea (CCD): a case report of CCD suspected by prenatal ultrasonography and magnetic resonance imaging (MRI) publication-title: Am. J. Case Rep. – ident: e_1_2_5_6_1 doi: 10.1038/gim.2015.30 – ident: e_1_2_5_2_1 doi: 10.1016/j.jpeds.2019.07.039 – ident: e_1_2_5_5_1 doi: 10.12659/AJCR.903433 – ident: e_1_2_5_4_1 doi: 10.1172/JCI108094 – ident: e_1_2_5_3_1 doi: 10.1016/0002-9378(74)90093-3 |
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| SubjectTerms | amniotic fluid analysis Diarrhea dilated bowel loops fetal diagnosis Pediatrics polyhydramnios |
| Title | Congenital chloride diarrhea in a Japanese neonate with a novel SLC26A3 mutation |
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