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| 1 | Diagnosis in bile acid-CoA:Amino acid N-acyltransferase deficiency显示文摘Cholate-CoA ligase(CCL) and bile acid-CoA:amino acid N-acyltransferase(BAAT) sequentially mediate bile-acid amidation.Defects can cause intrahepatic cholestasis.Distinction has required gene sequencing.We assessed potential clinical utility of immunostaining of liver for CCL and BAAT.Using commercially available antibodies against BAAT and CCL,we immunostained liver from an infant with jaundice,deficiency of amidated bile acids,and transcription-terminating mutation in BAAT.CCL was normally expressed.BAAT expression was not detected.Immunostaining may facilitate diagnosis in bileacid amidation defects. | Nedim Hadzi Laura N Bull Peter T Clayton AS Knisely | 2012 | World Journal of Gastroenterology2012，18，25： | 3 |
| 2 | Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis显示文摘Progressive familial intrahepatic cholestasis(PFIC) type 2 is caused by mutations in ABCB11,which encodes bile salt export pump(BSEP).We report a Thai female infant who presented with progressive cholestatic jaundice since 1 mo of age,with normal serumγ-glutamyltransferase.Immunohistochemical staining of the liver did not demonstrate BSEP along the canaliculi,while multidrug resistance protein 3 was expressed adequately.Novel mutations in ABCB11,a four-nucleotide deletion in exon 3,c.90_93delGAAA,and a single-nucleotide insertion in exon 5,c.249_250insT, were identified,with confirmation in her parents. These mutations were predicted to lead to synthesis of truncated forms of BSEP.Immunostaining and mutation analysis thus established the diagnosis of PFIC type 2. | Suporn Treepongkaruna Amornphun Gaensan Paneeya Pienvichit Ondrej Luksan AS Knisely Pattana Sornmayura Milan Jirsa | 2009 | World Journal of Gastroenterology2009，15，34： | 3 |
| 3 | Abnormalities of diaphragmatic muscle in neonates with ventilated lungs显示文摘 | Knisely AS Leal SM Singer DB | 1988 | J Pediatr1988，113，： | 1 |
| 4 | Abnormalities of diaphragmatic muscle in neonates with ventilated lungs 显示文摘 | Knisely AS Lea] SM Singer DB | 1988 | J Pediatr1988，113，6： | 1 |
| 5 | Cystic biliary atresia:an etiolo- gic and prognostic subgroup 显示文摘 | Caponcelli E Knisely AS Davenport M | 2008 | J Pediatr Surg2008，43，9： | 1 |
| 6 | Cysic biliary attresia:an etiologic and prognostic subgroup显示文摘 | Caponcelli E Knisely AS Daveport M | | 0，，： | 1 |
| 7 | Cystic biliary atresia; an etiologic and prognostic subgroup显示文摘 | Caponcelli E Knisely AS Davenport M | 2008 | J Pediatr Surg2008，43，9： | 1 |
| 8 | Cystic biliary atresia:an etiologic and prognostic subgroup 显示文摘 | Caponceli E Knisely AS Dawmport M | 2008 | J Pediatr Surg2008，43，9： | 1 |
| 9 | Auxiliary transplantation for acute liver failure:histopathological study of native liver regeneration显示文摘 | Quaglia A Portmann BC Knisely AS | | 0，，10： | 1 |
| 10 | Progressive familial intrahepatic cholestasis: an update 显示文摘 | Knisely AS | 2004 | Pediatr Dev Patho2004，7，4： | 1 |
| 11 | Cystic biliary atresia: an etiologic and prognostic subgroup显示文摘 | Caponcelli E Knisely AS Davenport M | 2008 | J Pediatr Surg2008，43，9： | 1 |
| 12 | Benign fibroepithelial Polyps causing symptomatic bilateral intermittent hydrouert eronephrosis显示文摘 | Lavelle JP Knisely AS Bellinger MF | 1997 | J Urol1997，158，： | 1 |
| 13 | A gene encoding a liver - specific ABC transporter is mutated in progressive familial intrahepatic cholestasis 显示文摘 | Strautnieks SS Bull LN Knisely AS | 1998 | Nat Genet1998，20，3： | 1 |
| 14 | Bile salt export pump (BSEP) deficiency is a significant risk factor for both pediatric and adult hepatobiliary malignancy 显示文摘 | Knisely AS Strantnieks S Scheimann AO | 2005 | Hepatology2005，42，： | 1 |
| 15 | Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency 显示文摘 | KNISELY AS STRAUTNIEKS SS MEIER Y | 2006 | Hepatology2006，44，： | 1 |
| 16 | Hepatocellular carcino-ma in ten children under five years of age with bile salt exportpump deficiency显示文摘 | Knisely AS Strautnieks SS Meier Y | 2006 | Hepatology2006，44，2： | 1 |
| 17 | Role of pres-sure and pancreatic reflux in the aetiology of choledochal mal-formation 显示文摘 | TUROWSKI C KNISELY AS DAVENPORT M | 2011 | Br J Surg2011，98，9： | 1 |
| 18 | Hepatoeellular carcinoma in ten children under five years of age with bile salt export pump deficiency 显示文摘 | Knisely AS Stmutnieks SS Meier Y | 2006 | Hepatology2006，44，2： | 1 |
| 19 | Mutations in bile salt export pump ( ABCB11 ) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma 显示文摘 | Scheimann AO Strautnieks SS Knisely AS | 2007 | J Pediatr2007，150，5： | 1 |
| 20 | Inflammatory cytokines, nitric oxide, and necrotizing enterocolitis 显示文摘 | Ford HR Sorrels DL Knisely AS | 1996 | Semin Pediatr Surg1996，5，3： | 1 |
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