دورية أكاديمية
Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance
| العنوان: | Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance |
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| المؤلفون: | Christos Dimitriou, Souha Saliba, Xavier Peyrassol, Wafa Ben Abbou, Marie Cécile Nassogne, Carine Neugroschl, Elsa Wiame, Anne De Leener, Marie Cassart |
| المصدر: | Clinical Case Reports, Vol 8, Iss 6, Pp 1010-1014 (2020) |
| بيانات النشر: | Wiley, 2020. |
| سنة النشر: | 2020 |
| المجموعة: | LCC:Medicine LCC:Medicine (General) |
| مصطلحات موضوعية: | enterolithiasis, metabolic disease, prenatal diagnosis, Medicine, Medicine (General), R5-920 |
| الوصف: | Abstract We report a fetus with heterogeneous colonic content, an isolated sonographic prenatal sign of lysinuric protein intolerance, a very rare metabolic disease. Familial genetic enquiries confirmed heterozygote mutation in the implicated gene in parents. The prenatal diagnosis led to neonatal dietary adaptation and avoided acute complications. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2050-0904 |
| العلاقة: | https://doaj.org/toc/2050-0904Test |
| DOI: | 10.1002/ccr3.2780 |
| الوصول الحر: | https://doaj.org/article/3a5ab8700d8e4fab88e9210dbf60e463Test |
| رقم الانضمام: | edsdoj.3a5ab8700d8e4fab88e9210dbf60e463 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 20500904 |
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| DOI: | 10.1002/ccr3.2780 |