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A Novel Manifestation of Prolidase Deficiency in a Toddler Diagnosed With Very-early-onset Crohn Disease.

作者信息

Rizvi S Ahsan, Elder Melissa, Beasley Genie

机构信息

Department of Pediatrics, Division of Pediatric Allergy, Immunology, and Rheumatology.

Department of Pediatrics, Division of Pediatric Gastroenterology and Hepatology and Nutrition, UF Health Shands Children's Hospital, University of Florida, Gainesville, FL.

出版信息

J Pediatr Gastroenterol Nutr. 2019 Sep;69(3):e89-e90. doi: 10.1097/MPG.0000000000002402.

DOI:10.1097/MPG.0000000000002402
PMID:31107408
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6727922/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa92/6727922/8b87a8ac711d/jpga-69-e89-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa92/6727922/8b87a8ac711d/jpga-69-e89-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa92/6727922/8b87a8ac711d/jpga-69-e89-g001.jpg

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本文引用的文献

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Genet Couns. 2015;26(2):205-11.
2
Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.外显子组测序分析揭示了极早发型炎症性肠病患者原发性免疫缺陷基因中的变异。
Gastroenterology. 2015 Nov;149(6):1415-24. doi: 10.1053/j.gastro.2015.07.006. Epub 2015 Jul 17.
3
Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review.
婴儿期脯氨酰肽酶缺乏伴亚甲蓝血症偶然发现。
BMJ Case Rep. 2021 Nov 18;14(11):e244155. doi: 10.1136/bcr-2021-244155.
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Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.脯氨酸肽酶缺乏症自然病史的定量分析:17 个家系的描述及已发表病例的系统回顾
Genet Med. 2021 Sep;23(9):1604-1615. doi: 10.1038/s41436-021-01200-2. Epub 2021 May 26.
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Medicina (Kaunas). 2020 Aug 23;56(9):425. doi: 10.3390/medicina56090425.
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Biology (Basel). 2020 May 21;9(5):108. doi: 10.3390/biology9050108.
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