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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	Comparison of efficacy of pantoprazole alone versus pantoprazole plus mosapride in therapy of gastroesophageal reflux disease : a randomized trial 显示文摘	MADAN K AHUJA V KASHYAP PC	2004	Dis Esophagus2004，17，4：	1
3	Direct observation of the development of recrystallization texture incommercial purity aluminum 显示文摘	Doherty R D Kashyap K Panchanadeeswaran S	1993	Acta Metall Mater1993，41，10：	1
4	Comparative deacetylaseactivity of wild type and mutants of SIRT1 显示文摘	Malik Kashyap A Bansal K	2010	Biochem BiophysRes Commun2010，391，1：	1
5	Integrated enhanced and synthetic vision system for transport aircraft 显示文摘	Kumar N S Kashyap S K Naidu V P S	2013	Defencc Science Journal2013，63，2：	1
6	Internal Finance and Firm Investment显示文摘	Hubbard R G Kashyap A K Whited T M	1995	Journal of Money Credit and Banking1995，27，3：	1
7	Strengthening in carbon nanotube/aluminum ( CNT/A1 ) composites 显示文摘	George R Kashyap K T Raw R	2005	Scripta Materialia2005，53，10：	1
8	Effect of irrigation scheduling on potato crop parameters under water stressed canditions显示文摘	Kashyap P S Panda R K	2003	Agricultural Water Management2003，59，1：	1
9	What Do a Million Observations on Banks Say about the Transmission of Monetary Policy?显示文摘	Kashyap Anil K Stein Jeremy C	2000	American Economic Review2000，90，3：	1
10	Application of pectionases in the commercial sector,a Review显示文摘	Kashyap D R Vohra P K Chopra S	2001	Bioresourse Technology2001，77，：	1
11	Monetary Policy and Credit Condition : Evidence From the Composition of Extnal Finance 显示文摘	KASHYAP A K STEIN J C WILOCX D W	1993	A- merican Economic Review1993，83，：	1
12	Mo- netary Policy and Credit Conditions:Evidence from the Composition of External Finance显示文摘	KASHYAP A STEIN K WILCOX J C	1993	American Economic Review1993，，83：	1
13	Combinatorial antibody libraries from survivors of the Turkish HSN1 avian influenza outbreak reveal virus neutralization strategies显示文摘	Kashyap A K Steel J Ner A F	2008	Proc Natl Acad Sci U S A2008，105，16：	1
14	Corporate environmentalism:antecedents and Influence of industry type显示文摘	BANERJEE S B IVER E S KASHYAP R K		0，，03：	1
15	Applications of pectinases in the commercial sector: a review显示文摘	D R Kashyap P K Vohra S Chopra	2001	Bioresource Technology2001，，77：	1
16	An intelligent system for integrating process planning and design显示文摘	Kashyap R L Smit Harald J Costas tsatsoulis and wiggins layne K	1988	Robotics and Automation1988，2，4：	1
17	Long-term safety and efficacy of a once-daily niacin/lovastatin formulation for patients with dyslipidemia显示文摘	Kashyap ML McGovem ME Berra K	2002	Am J Cardiol2002，89，：	1
18	An energy-aware and intelli-gent cluster-based event detection scheme in wireless sensor net-works 显示文摘	SUNIL K KASHYAP K ZAN B	2008	International Journal of Sensor Networks2008，3，2：	1
19	Effective management of irrigation water for wheat under stressed conditions 显示文摘	Panda R K Behera S K Kashyap P S	2003	Agri- cultural Water Management2003，63，：	1
20	Applications of pectinases in commercial sector:a review显示文摘	KASHYAP D R VOHRA P K CHOPRA S	2001	Bioresour Technol2001，77，：	1

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