Search Results - "McKiernan, PJ"

Progressive histological damage in liver allografts following pediatric liver transplantation by Evans, Helen M, Kelly, Deirdre A, McKiernan, Patrick J, Hübscher, Stefan

“…The long-term histological outcome after pediatric liver transplantation (OLT) is not yet fully understood. De novo autoimmune hepatitis, consisting of…”
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Nitisinone in the treatment of hereditary tyrosinaemia type 1 by MCKIERNAN, Patrick J

“…Hereditary tyrosinaemia type 1 (HT-1) is a rare genetic disease caused by mutations in the gene for the enzyme fumarylacetoacetase. It usually presents with…”
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Survival of children after liver transplantation for hepatocellular carcinoma by Baumann, Ulrich, Adam, René, Duvoux, Christophe, Mikolajczyk, Rafael, Karam, Vincent, D'Antiga, Lorenzo, Chardot, Christophe, Coker, Ahmet, Colledan, Michele, Ericzon, Bo‐Goran, Line, Pål Dag, Hadzic, Nedim, Isoniemi, Helena, Klempnauer, Jürgen L., Reding, Raymond, McKiernan, Patrick J., McLin, Valérie, Paul, Andreas, Salizzoni, Mauro, Furtado, Emanuel San Bento, Schneeberger, Stefan, Karch, André

“…Hepatocellular carcinoma (HCC) in childhood differs from adult HCC because it is often associated with inherited liver disease. It is, however, unclear whether…”
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Bile bilirubin pigment analysis in disorders of bilirubin metabolism in early infancy by Lee, W S, McKiernan, P J, Beath, S V, Preece, M A, Baty, D, Kelly, D A, Burchell, B, Clarke, D J

“…BACKGROUND Early and accurate diagnosis of Crigler–Najjar syndrome, which causes prolonged unconjugated hyperbilirubinaemia in infancy, is important, as…”
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Targeting miRNA-based medicines to cystic fibrosis airway epithelial cells using nanotechnology by McKiernan, Paul J, Cunningham, Orla, Greene, Catherine M, Cryan, Sally-Ann

“…Cystic fibrosis (CF) is an inherited disorder characterized by chronic airway inflammation. microRNAs (miRNAs) are endogenous small RNAs which act on messenger…”
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An Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European survey by Jahnel, Jörg, Zöhrer, Evelyn, Fischler, Björn, D’Antiga, Lorenzo, Debray, Dominique, Dezsofi, Antal, Haas, Dorothea, Hadzic, Nedim, Jacquemin, Emmanuel, Lamireau, Thierry, Maggiore, Giuseppe, McKiernan, Pat J, Calvo, Pier Luigi, Verkade, Henkjan J, Hierro, Loreto, McLin, Valerie, Baumann, Ulrich, Gonzales, Emmanuel

“…OBJECTIVE:Inborn errors of primary bile acid (BA) synthesis are genetic cholestatic disorders leading to accumulation of atypical BA with deficiency of normal…”
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Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet α-granule biogenesis by Lo, Bryan, Li, Ling, Gissen, Paul, Christensen, Hilary, McKiernan, Patrick J., Ye, Charles, Abdelhaleem, Mohamed, Hayes, Jason A., Williams, Michael D., Chitayat, David, Kahr, Walter H.A.

“…Bleeding problems are associated with defects in platelet α-granules, yet little is known about how these granules are formed and released. Mutations affecting…”
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Mutations in VPS33B , encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome by Stapelbroek, Janneke M, Morgan, Neil V, Johnson, Colin A, Lo, Bryan, Karet, Fiona E, McKiernan, Patrick J, Knisely, A S, Forshew, Tim, Morris, Andrew A M, Trembath, Richard C, Houwen, Roderick H J, Wraith, James E, Quarrell, Oliver W, Cooper, Wendy N, Maher, Eamonn R, Klomp, Leo W J, Thompson, Richard J, Wali, S, Gissen, Paul, Kelly, Deirdre A, McClean, Patricia, Di Rocco, Maja, Mandel, Hanna, Lynch, Sally A

“…ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized by neurogenic arthrogryposis multiplex congenita, renal tubular…”
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POLG mutations in Alpers syndrome by NGUYEN, K. V, OSTERGAARD, E, HOIST RAVN, S, BALSLEV, T, RUBAEK DANIELSEN, E, VARDAG, A, MCKIERNAN, P. J, GRAY, G, NAVIAUX, R. K

“…Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following combinations of POLG mutations: 1)…”
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Metabolism of paracetamol in children with chronic liver disease by AL-OBAIDY, S. S, MCKIERNAN, P. J, LI WAN PO, A, GLASGOW, J. F. T, COLLIER, P. S

“…To study the metabolism of single doses of paracetamol in paediatric patients with chronic liver disease admitted to a hospital liver disease clinic. Thirteen…”
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British Paediatric Surveillance Unit Study of Biliary Atresia: Outcome at 13 Years by McKiernan, PJ, Baker, Alastair J, Lloyd, Carla, Mieli‐Vergani, Giorgina, Kelly, Deirdre A

“…ABSTRACT Background: Little information is available on contemporary, prospectively collected data on the long‐term outcome of national cohorts of children…”
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The frequency and outcome of biliary atresia in the UK and Ireland by McKiernan, Patrick J, Baker, Alastair J, Kelly, Deirdre A

“…Biliary atresia is an obliterative cholangiopathy of infancy that is fatal if untreated. Surgical treatment, the Kasai portoenterostomy, may restore bile flow…”
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Paracetamol induced hepatotoxicity by Mahadevan, S B K, McKiernan, P J, Davies, P, Kelly, D A

“…Aim: To identify the clinical and biochemical risk factors associated with outcome of paracetamol induced significant hepatotoxicity in children. Methods:…”
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Clinical and molecular genetic features of ARC syndrome by GISSEN, Paul, TEE, Louise, FITZPATRICK, David, GARCIA-CAZORLA, Angeles, GUYOT, Delphine, JACQUEMONT, Sebastien, KOLETZKO, Sibylle, LEHEUP, Bruno, MANDEL, Hanna, VIEIRA SANSEVERINO, Maria Teresa, HOUWEN, Roderick H. J, MCKIERNAN, Patrick J, JOHNSON, Colin A, KELLY, Deirdre A, MAHER, Eamonn R, GENIN, Emmanuelle, CALIEBE, Almuth, CHITAYAT, David, CLERICUZIO, Carol, DENECKE, Jonas, DI ROCCO, Maja, FISCHLER, Björn

“…Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome (MIM 208085) is an autosomal recessive multisystem disorder that may be associated with…”
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Living‐related Liver Transplantation for Acute Liver Failure by McKiernan, PJ

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Mycophenolate mofetil for renal dysfunction after pediatric liver transplantation by EVANS, Helen M, MCKIERNAN, Patrick J, KELLY, Deirdre A

“…Cyclosporine A (CsA) and tacrolimus (Tac) provide effective immunosuppression after orthotopic liver transplantation (OLT) but can cause renal dysfunction that…”
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The role of liver transplantation in urea cycle disorders by Leonard, James V, McKiernan, Peter J

“…Liver transplantation has an important role in the management of patients with urea cycle disorders, particularly those with severe variants, progressive liver…”
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NATIVE LIVER SURVIVAL IN PATIENTS WITH FIC1 DEFICIENCY: IMPACT OF GENOTYPE, SERUM BILE ACID CONCENTRATIONS AND SURGICAL BILIARY DIVERSION by van Wessel, D, Thompson, RJ, Gonzales, EM, Jankowska, I, Shneider, BL, Sokal, E, Grammatikopoulos, T, Kadaristiana, A, Jacquemin, E, Spraul, A, Lipinski, P, Czubkowski, P, Rock, N, Shagrani, M, Broering, D, Algoufi, T, Mazhar, N, Nicastro, E, Kelly, D, Nebbia, G, Arnell, H, Fischler, B, Hulscher, J, Serranti, D, Arikan, C, Polat, E, Debray, D, Lacaille, F, Goncalves, C, Hierro, L, Bartolo, GM, Mozer-Glassberg, Y, Azaz, A, Brecelj, J, Dezsofi, A, Calvo, PL, Grabhorn, E, Hartleif, S, Van der Woerd, W, Wang, JS, Li, LT, Durmaz, O, Kerkar, N, Jorgensen, MH, Fischer, RT, Jimenez-Rivera, C, Alam, S, Cananzi, M, Laverdure, N, Ferreira, CT, Ferrero, FO, Wang, H, Sency, V, Kim, KM, Chen, HL, Carvalho, E, Fabre, A, Bernabeu, JQ, Alonso, EM, Sokol, RJ, Suchy, FJ, Loomes, KM, McKiernan, PJ, Rosenthal, P, Turmelle, YP, Rao, GS, Horslen, SP, Kamath, BM, Rogalidou, M, Karnsakul, W, Hansen, BE, Verkade, HJ

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THE PRESENCE OF A TRUNCATING MUTATION IN ABCB11 ABROGATES THE BENEFICIAL EFFECT OF A RESIDUAL FUNCTION MUTATION ON THE COURSE OF SEVERE BILE SALT EXPORT PUMP DEFICIENCY by Felzen, A, van Wessel, D, Thompson, RJ, Gonzales, EM, Jankowska, I, Shneider, BL, Sokal, E, Grammatikopoulos, T, Kadaristiana, A, Jacquemin, E, Spraul, A, Lipinski, P, Czubkowski, P, Rock, N, Shagrani, M, Broering, D, Algoufi, T, Mazhar, N, Nicastro, E, Kelly, D, Nebbia, G, Arnell, H, Fischler, B, Hulscher, J, Serranti, D, Arikan, C, Polat, E, Debray, D, Lacaille, F, Goncalves, C, Hierro, L, Bartolo, GM, Mozer-Glassberg, Y, Azaz, A, Brecelj, J, Dezsofi, A, Calvo, PL, Grabhorn, E, Hartleif, S, Van der Woerd, W, Kamath, BM, Wang, JS, Li, LT, Durmaz, O, Kerkar, N, Jorgensen, MH, Fischer, RT, Jimenez-Rivera, C, Alam, S, Cananzi, M, Ruiz, M, Ferreira, CT, Ferrero, FO, Wang, H, Sency, V, Kim, KM, Chen, HL, Carvalho, E, Fabre, A, Bernabeu, JQ, Alonso, EM, Sokol, RJ, Suchy, FJ, Loomes, KM, McKiernan, PJ, Rosenthal, P, Turmelle, Y, Horslen, SP, Schwarz, KB, Bezerra, JA, Wang, KS, Hansen, BE, Verkade, HJ

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Complete regression of posttransplant lymphoproliferative disease using partially HLA-matched Epstein Barr virus-specific cytotoxic T cells by HAQUE, Tanzina, TAYLOR, Clare, WILKIE, Gwen M, MURAD, Parvez, AMLOT, Peter L, BEATH, Sue, MCKIERNAN, Patrick J, CRAWFORD, Dorothy H

“…Adoptive immunotherapy with autologous and donor-derived cytotoxic T lymphocytes (CTL) has recently been used to treat Epstein Barr virus (EBV)-positive…”
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