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14篇 您的检索式：作者名="Choudry K"

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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	The vascularized medial femoral condyle periosteal bone flap for the treatment of recalcitrant bony nonunions显示文摘	Choudry UH Bakri K Moran SL	2008	Ann Plast Surg2008，60，2：	1
	3	Yhe effect of an iron chelating agent on protoporphyrin Ⅸ levels and phototoxicity in topical 5-aminolaevulinic acidphotodynamic therapy显示文摘	Choudry K Brooke RC Farrar W		0，，01：	1
	4	The effect of an iron chelating agent on protoporphyrin IX levels and phototoxicity in topical 5-aminolevulinic acid photodynamic therapy显示文摘	Choudry K Brooke RC Farrar W	2003	BrJ Dermatol2003，149，：	1
	5	The vascularized medial femoral condyle periosteal bone flap for the treatment of recalcitrant bony nonunions显示文摘	Choudry UH Bakri K Moran SL	2008	Ann Plast Surg2008，60，2：	1
	6	Admission serum magnesium level does not predict the hospital out come of patients with acute myocardial infarction显示文摘	Madias J E Sheth K Choudry M A	1996	Arch Int Med1996，156，15：	1
	7	Critical role of hy- perthermic intraperitoneal chemoperfusion in the treatment of a patient with pseudomyxoma peritonei显示文摘	Cole K Choudry H Jones H	2012	J Surg On- col2012，106，：	1
	8	The effect of aniron chelating agent on protoporphyrin IX levels and photo-toxicity in topical 5-aminolevulinic acid for photodynamictherapy显示文摘	Choudry K Brooke RC Farrar W	2003	Br J Dermatol2003，149，1：	1
	9	The effect of an iron eheling agent on protoporphyrin IX levels and photo-toxicity in topical 5-aminolevulinic acid photodynamic therapy 显示文摘	Choudry K Brooke RC Farrar W	2003	Br J Dermatol2003，149，：	1
	10	The effect of an iron chelating agent on protoporphyrin IX levels and phototoxicity in topical 5- aminolaevulinic acid photodynamic therapy显示文摘	Choudry K Brooke R C Farrar W	2003	Br J Dermatol2003，149，1：	1
	11	The effect of an iron chelating agent on protoporphyrin Ⅸ levels and phototoxicity in topical 5-aminolaevulinic acid photodynamic therapy显示文摘	Choudry K Brooke RC Farrar W		0，，01：	1
	12	The effect of an iron chelating agent on protoporphyrin IX levels and phototoxicity in topical 5-aminolaevulinic acid photodynamic therapy显示文摘	Choudry K Brooke RC Farrar W	2003	Br J Dermatol2003，149，1：	1
	13	The vascularized medial femoral condyle periosteal bone flap for the treatment of recalcitrant bony nonunions显示文摘	Choudry UH Bakri K Moran SL	2008	Ann Plast Surg2008，60，2：	1
	14	Interactions of the flavonoid naringenin in the gastrointestinal tract and the influence of glycosylation显示文摘	Choudry R Chowrimootoo G Srai K	1999	Biochem Biophys Res Commun1999，265，：	1

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