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	题名	作者	年代	出处	被引量
1	Congenital diarrhea in a newborn infant: A case report显示文摘BACKGROUND Microvillus inclusion disease(MVID)is a rare autosomal recessive cause of severe congenital diarrhea with significant morbidity and mortality.Definitive treatment involves bowel transplant.The diagnosis of this condition can be challenging and a few genetic panels are available for the identification of the most common mutations.We present the case of an infant with MVID due to a mutation not reported in the literature before.CASE SUMMARY We report the case of an infant transferred to our institution with severe diarrhea of unknown etiology,failure to thrive,and significant metabolic derangements.An extensive work-up including stool studies for common gastrointestinal pathogens,abdominal ultrasound,esophagogastroduodenoscopy with duodenal biopsy and flexible sigmoidoscopy failed to reveal a diagnosis.Multiple dietary and formula regimens were introduced but all resulted in voluminous diarrhea.She remained on total parenteral nutrition(TPN)for the duration of her hospital stay.Genetic testing was done and she was subsequently found to have a novel mutation in the MYO5B gene[homozygous mutation for MYO5B c.1462del,p.(Ile488Leufs*93)]giving us the diagnosis of MVID.She remains on TPN while awaiting bowel transplant at the time of the compilation of this case report.CONCLUSION We report a novel mutation involved in MVID and highlight the importance of considering this disease when faced with a newborn presenting with life threatening diarrhea.At the time of this publication,232 allelic variations of this gene(MIM#606540)exist in National Center for Biotechnology Information’s database.Our patient’s mutation has not been reported in literature as a cause of MVID.	Mehrin Sadiq Omer Choudry Arun K Kashyap Danitza M Velazquez	2019	World Journal of Clinical Pediatrics2019，8，3：	3
2	Fuzzy synthetic evaluation of disinfection by-products-a risk-based indexing system 显示文摘	Sadiq R Rodriguez M J	2004	J Environ Manage2004，73，1：	1
3	Spatial variations of human health risk associated with exposure to chlorination by-products occurring in drinking water显示文摘	LEGAY C RODRIGUEZ M J SADIQ R	2011	Journal of Environmental Management2011，92，3：	1
4	Prioritization of Envi-ronmental Issues in Offshore Oil and Gas Opera-tions :a Hybrid Approach Using Fuzzy InferenceSystem and Fuzzy Analytic Hierarchy Process显示文摘	Yang M Khan F I Sadiq R	2011	Process Safety and Environmental Protection2011，，：	1
5	Thermodynamic solubility relationships of inorganic vanadium in the marine environment显示文摘	Sadiq M	1988	Marine Chemistry1988，23，：	1
6	Specification and validation of process constraints for flexible workflows显示文摘	SADIQ S W ORLOWSKA M E SADIQ W	2005	Information Systems2005，30，5：	1
7	Disinfection by-products (DBPs) in drinking water and predictive models for their occurrence: a review 显示文摘	Sadiq R Rodriguez M J	2004	Science of the Total Environment2004，321，1：	1
8	Bioaccumulation of nickel and vanadium by clams (Meretrix meretrix) living in different salinities along the Saudi coast of the Arabian Gulf显示文摘	SADIQ M ALAM I A AL-MOHANNA H	1992	Environmental Pollution1992，76，3：	1
9	Leakage detection and location in water distribution systems using a fuzzy-based methodology显示文摘	Islam M S Sadiq R Rodriguez M J etc	2011	Urban Water Journal2011，8，6：	1
10	Specification and Validation of Process Constraints for Flexible Workflows 显示文摘	SHAZIA W S ORLOWSKA M E SADIQ W	2005	Information Systems2005，30，5：	1
11	Metal contamination in sediments trom a de- salination plant effluent outfall area 显示文摘	Sadiq M	2002	Science of the Total Environment2002，287，1：	1
12	Leakage detection and location in water distribution systems using a fuzzy-based methodology显示文摘	Islam M S Sadiq R Rodriguez M J	2011	Urban Water Journal2011，8，6：	1
13	Successful Occlusion of a Coronary Arteriovenous Fistulas Using Amplatzer Duct Occluder显示文摘	Sadiq M Wilkinson J L Qureshi S A	2001	Cardiol Young2001，11，1：	1
14	Linear instability in a thin viscoelastic liquid film on an inclined,non-uniformly heated wall显示文摘	SADIQ I M R USHA R	2005	Int J Eng Sci2005，43，1920：	1
15	Analyzing process models using graph reduction techniques显示文摘	Sadiq W Orlowska M E	2000	Information Systems2000，25，2：	1
16	Successful medical treatment of Acanthamoeba keratitis显示文摘	Auzuara-Blanco A Sadiq AS Hussain M	1998	Int Ophthalmol1998，21，：	1
17	Nickel and vanadium in air particulates at Dharahn(Saudi Arabia)during and after the Kuwait oil fires显示文摘	Sadiq M Mian A A	1994	Atmospheric Environment1994，28，：	1
18	Arsenic chemistry in soils:An overview of thermodynamic predictions and field observations显示文摘	Sadiq M	1997	Water Air Soil Pollution1997，93，：	1
19	Successful occlusion of a coronaryarteriovenous fistula using an Amplatzer duct occluder显示文摘	SADIQ M WILKINSON JL QURESHI SA	2001	Cardiol Young2001，11，：	1
20	An assignment algorithm for dynamic picking systems 显示文摘	Sadiq M Landers T L Taylor G D	1996	IIE Transactions1996，28，8：	1

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