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| 1 | Etiology, extended-spec- trum beta-lactamase rates and antimicrobial susceptibility of gram- negative bacilli causing intra-abdominal infections in patients in general pediatric and pediatric intensive care Units-Global data from the study for monitoring antimicrobial resistance trends 2008 to 2010显示文摘 | Badal R E Bouchillon S K Lob S H | 2013 | Pediatr Infect Dis J2013，32，6： | 1 |
| 2 | Fluoroquinolone resistance among gram-negative urinary tract pathogens:global smart program results,2009-2010显示文摘 | BouchillonS Hoban DJ Badal R | 2012 | Open Microbiol J2012，6，： | 1 |
| 3 | Trends in susceptibility of selected gram - negative bacilli isolated from intra - abdominal infec- tions in North America: SMART 2005 -2010 显示文摘 | Babinchak T Badal R Hoban D | 2013 | Diagn Microbiol Infect Dis2013，76，： | 1 |
| 4 | C ontrolled blasting in jointed ro c k s显示文摘 | BADAL R | 1994 | InternationalJournal of Rock M echanics and M ining Sciences1994，31，1： | 1 |
| 5 | A review of ten years of the study for monitoring antimierobial resistance trends(SMART) from 2002 to 2011 显示文摘 | Morrissey I Haekel M Badal R | 2013 | Pharmaceuticals(Basel)2013，6，11： | 1 |
| 6 | New insights into molecular mechanisms of diabetic kidney disease 显示文摘 | Badal S S Danesh F R | 2014 | Am J Kidney Dis2014，63，2： | 1 |
| 7 | A Review of Ten Years of the Study for Monitoring Antimicrobial Resistance Trends (SMART) from 2002 to 2011显示文摘 | MORRISSEY I HACKEL M BADAL R | 2013 | Pharmaceuticals (Basel)2013，6，11： | 1 |
| 8 | Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature显示文摘BACKGROUND Cholesteryl ester storage disease(CESD)is a rare genetic disease.Its symptoms and severity are highly variable.CESD is a systemic disease that can lead to the accumulation of fat and inflammation in the liver,as well as gastrointestinal and cardiovascular disease.The majority of patients require liver transplantation due to decompensated cirrhosis.Enzyme replacement therapy has been approved based on a randomized trial.Our study aims to clinically and genetically evaluate two siblings with CESD who underwent liver transplantation,as well as their first-degree family members.CASE SUMMARY The siblings were compound heterozygous for the missense variant in LIPA exon 8,c.894G>A,(p.Gln298Gln)and a single base pair deletion,c.482del(p.Asn161Ilefs*19).Analyses of single nucleotide polymorphisms showed variants with an increased risk of fatty liver disease and fibrosis for both patients.Clinically,both patients show signs of recurrence of CESD in the liver after transplantation and additional gastrointestinal and cardiovascular signs of CESD.Three family members who were LIPA heterozygous had a lysosomal acid lipase activity below the reference value.One of these carriers,a seven-year-old boy,was found to have severe dyslipidemia and was subsequently treated with statins.CONCLUSION Our study underlines that CESD is a multi-organ disease,the progression of which may occur post-liver transplantation.Our findings underline the need for monitoring of complications and assessment of possible further treatment. | Elias Badal Rashu Anders Ellekær Junker Karen Vagner Danielsen Emilie Dahl Ole Hamberg Line Borgwardt Vibeke Brix Christensen Nicolai J Wewer Albrechtsen Lise L Gluud | 2020 | World Journal of Clinical Cases2020，8，9： | 0 |
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