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- [33] Cryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiencyJOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 1996, 22 (04): : 380 - 383Zammarchi, E论文数: 0 引用数: 0 h-index: 0机构: UNIV FLORENCE,DEPT PEDIAT,FLORENCE,ITALY UNIV FLORENCE,DEPT PEDIAT,FLORENCE,ITALYDonati, MA论文数: 0 引用数: 0 h-index: 0机构: UNIV FLORENCE,DEPT PEDIAT,FLORENCE,ITALY UNIV FLORENCE,DEPT PEDIAT,FLORENCE,ITALYFilippi, L论文数: 0 引用数: 0 h-index: 0机构: UNIV FLORENCE,DEPT PEDIAT,FLORENCE,ITALY UNIV FLORENCE,DEPT PEDIAT,FLORENCE,ITALYResti, M论文数: 0 引用数: 0 h-index: 0机构: UNIV FLORENCE,DEPT PEDIAT,FLORENCE,ITALY UNIV FLORENCE,DEPT PEDIAT,FLORENCE,ITALY
- [34] Intermittent hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiencyThe Indian Journal of Pediatrics, 2004, 71 (7) : 645 - 647Gulati S.论文数: 0 引用数: 0 h-index: 0机构: Department of Pediatrics, All India Inst. of Medical Sciences Department of Pediatrics, All India Inst. of Medical SciencesMenon S.论文数: 0 引用数: 0 h-index: 0机构: Department of Pediatrics, All India Inst. of Medical Sciences Department of Pediatrics, All India Inst. of Medical SciencesKabra M.论文数: 0 引用数: 0 h-index: 0机构: Department of Pediatrics, All India Inst. of Medical Sciences Department of Pediatrics, All India Inst. of Medical SciencesKalra V.论文数: 0 引用数: 0 h-index: 0机构: Department of Pediatrics, All India Inst. of Medical Sciences Department of Pediatrics, All India Inst. of Medical Sciences
- [35] Ornithine transcarbamylase deficiency unmasked because of gastrointestinal bleedingJOURNAL OF CLINICAL GASTROENTEROLOGY, 2001, 32 (04) : 340 - 343Trivedi, M论文数: 0 引用数: 0 h-index: 0机构: Univ Missouri, Div Gastroenterol, Columbia, MO USAZafar, S论文数: 0 引用数: 0 h-index: 0机构: Univ Missouri, Div Gastroenterol, Columbia, MO USASpalding, MJ论文数: 0 引用数: 0 h-index: 0机构: Univ Missouri, Div Gastroenterol, Columbia, MO USAJonnalagadda, S论文数: 0 引用数: 0 h-index: 0机构: Univ Missouri, Div Gastroenterol, Columbia, MO USA
- [36] Living donor liver transplantation for ornithine transcarbamylase deficiencyPEDIATRIC TRANSPLANTATION, 2011, 15 (04) : 390 - 395Wakiya, T.论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, Japan Hirosaki Univ, Sch Med, Dept Surg, Hirosaki, Aomori 036, Japan Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, JapanSanada, Y.论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, Japan Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, JapanMizuta, K.论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, Japan Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, JapanUmehara, M.论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, Japan Hirosaki Univ, Sch Med, Dept Surg, Hirosaki, Aomori 036, Japan Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, JapanUrahasi, T.论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, Japan Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, JapanEgami, S.论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, Japan Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, JapanHishikawa, S.论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, Japan Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, JapanFujiwara, T.论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Surg, Shimotsuke, Tochigi 3290498, Japan Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, JapanSakuma, Y.论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Surg, Shimotsuke, Tochigi 3290498, Japan Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, JapanHyodo, M.论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Surg, Shimotsuke, Tochigi 3290498, Japan Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, JapanMurayama, K.论文数: 0 引用数: 0 h-index: 0机构: Chiba Childrens Hosp, Dept Metab, Chiba, Japan Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, JapanHakamada, K.论文数: 0 引用数: 0 h-index: 0机构: Hirosaki Univ, Sch Med, Dept Surg, Hirosaki, Aomori 036, Japan Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, JapanYasuda, Y.论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Surg, Shimotsuke, Tochigi 3290498, Japan Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, JapanKawarasaki, H.论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, Japan Jichi Med Univ, Dept Transplant Surg, Shimotsuke, Tochigi 3290498, Japan
- [37] Challenges of managing ornithine transcarbamylase deficiency in female heterozygotesMOLECULAR GENETICS AND METABOLISM REPORTS, 2022, 33Feigenbaum, Annette论文数: 0 引用数: 0 h-index: 0机构: Rady Childrens Hosp San Diego, Dept Pediat, Div Genet, San Diego, CA USA Univ Calif San Diego, San Diego, CA 92103 USA Rady Childrens Hosp San Diego, Dept Pediat, Div Genet, San Diego, CA USA
- [38] A complex case of delayed diagnosis of ornithine transcarbamylase deficiency in an adult patient with multiple comorbiditiesMOLECULAR GENETICS AND METABOLISM REPORTS, 2022, 33Abbott, Jessica论文数: 0 引用数: 0 h-index: 0机构: Atwal Clin Genom & Personalized Med, 214 Brazilian Ave,Suite 230, Palm Beach, FL 33480 USA Atwal Clin Genom & Personalized Med, 214 Brazilian Ave,Suite 230, Palm Beach, FL 33480 USASenzatimore, Mia论文数: 0 引用数: 0 h-index: 0机构: Atwal Clin Genom & Personalized Med, 214 Brazilian Ave,Suite 230, Palm Beach, FL 33480 USA Atwal Clin Genom & Personalized Med, 214 Brazilian Ave,Suite 230, Palm Beach, FL 33480 USAAtwal, Paldeep论文数: 0 引用数: 0 h-index: 0机构: Atwal Clin Genom & Personalized Med, 214 Brazilian Ave,Suite 230, Palm Beach, FL 33480 USA Atwal Clin Genom & Personalized Med, 214 Brazilian Ave,Suite 230, Palm Beach, FL 33480 USA
- [39] Three-Country Snapshot of Ornithine Transcarbamylase DeficiencyLIFE-BASEL, 2022, 12 (11):Seker Yilmaz, Berna论文数: 0 引用数: 0 h-index: 0机构: UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, England UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandBaruteau, Julien论文数: 0 引用数: 0 h-index: 0机构: UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, England Great Ormond St Biomed Res Ctr, Natl Inst Hlth Res, London WC1N 1EH, England Great Ormond St Hosp Children NHS Fdn Trust, Metab Med Dept, London WC1N 3JH, England UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandArslan, Nur论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Paediat Metab Med Dept, Fac Med, TR-35340 Izmir, Turkey UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandAydin, Halil Ibrahim论文数: 0 引用数: 0 h-index: 0机构: Baskent Univ, Paediat Metab Med Dept, Fac Med, TR-06490 Ankara, Turkey UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandBarth, Magalie论文数: 0 引用数: 0 h-index: 0机构: CHU Angers, Ctr Reference Malad Hereditaires Metab, 4 Rue Larrey, F-49933 Angers 9, France UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandBozaci, Ayse Ergul论文数: 0 引用数: 0 h-index: 0机构: Diyarbakir Childrens Hosp, Paediat Metab Med Dept, TR-21100 Diyarbakir, Turkey UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandBrassier, Anais论文数: 0 引用数: 0 h-index: 0机构: Necker Univ Hosp, APHP, Reference Ctr Inborn Errors Metab, F-75015 Paris, France Univ Paris Cite, F-75015 Paris, France UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandCanda, Ebru论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Paediat Metab Med Dept, Fac Med, TR-35100 Izmir, Turkey UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandCano, Aline论文数: 0 引用数: 0 h-index: 0机构: Timone Enfants Hosp, Reference Ctr Inherited Metab Disorders, 264 Rue St Pierre, F-13005 Marseille, France UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandChronopoulou, Efstathia论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bristol NHS Fdn Trust, Div Womens & Childrens Serv, Dept Inherited Metab Dis, Bristol BS1 3NU, England UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandConnolly, Grainne M.论文数: 0 引用数: 0 h-index: 0机构: Belfast Hlth & Social Care Trust, Belfast BT9 7AB, North Ireland UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandDamaj, Lena论文数: 0 引用数: 0 h-index: 0机构: CHU Hop Sud, Ctr Competence Malad Hereditaires Metab, F-35203 Rennes 2, France UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandDawson, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Birmingham NHS Fdn Trust, Metab Med Dept, Birmingham B15 2GW, England UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandDobbelaere, Dries论文数: 0 引用数: 0 h-index: 0机构: Jeanne Flandre Univ Hosp, Med Reference Ctr Inherited Metab Dis, F-59000 Lille, France CHRU Lille, RADEME Res Team Rare Metab & Dev Dis, EA 7364, F-59000 Lille, France UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandDouillard, Claire论文数: 0 引用数: 0 h-index: 0机构: Jeanne Flandre Univ Hosp, Med Reference Ctr Inherited Metab Dis, F-59000 Lille, France CHRU Lille, RADEME Res Team Rare Metab & Dev Dis, EA 7364, F-59000 Lille, France UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandEminoglu, Fatma Tuba论文数: 0 引用数: 0 h-index: 0机构: Ankara Univ, Paediat Metab Med Dept, Fac Med, TR-06080 Ankara, Turkey UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandErdol, Sahin论文数: 0 引用数: 0 h-index: 0机构: Uludag Univ, Paediat Metab Med Dept, Fac Med, TR-16059 Bursa, Turkey UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandErsoy, Melike论文数: 0 引用数: 0 h-index: 0机构: Dr Sadi Konuk Reseach & Training Hosp, Paediat Metab Med Dept, TR-34450 Istanbul, Turkey UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandFang, Sherry论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, Metab Med Dept, London WC1N 3JH, England UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandFeillet, Francois论文数: 0 引用数: 0 h-index: 0机构: CHU Brabois Enfants, Ctr Reference Malad Metabol Nancy, 5 Rue Morvan, F-54500 Vandoeuvre Les Nancy, France UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandGokcay, Gulden论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Paediat Metab Med Dept, Istanbul Fac Med, TR-34093 Istanbul, Turkey UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandGoksoy, Emine论文数: 0 引用数: 0 h-index: 0机构: Cengiz Gokcek Childrens Hosp, Paediat Metab Med Dept, TR-27010 Gaziantep, Turkey UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandGorce, Magali论文数: 0 引用数: 0 h-index: 0机构: CHU Toulouse, Ctr Reference Malad Rares Metabolisme, Hop Enfants, 330 Ave Grande Bretagne, F-31059 Toulouse 9, France UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandInci, Asli论文数: 0 引用数: 0 h-index: 0机构: Gazi Univ, Paediat Metab Med Dept, Fac Med, TR-06500 Ankara, Turkey UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandKadioglu, Banu论文数: 0 引用数: 0 h-index: 0机构: Konya City Hosp, Paediat Metab Med Dept, TR-42020 Konya, Turkey UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandKardas, Fatih论文数: 0 引用数: 0 h-index: 0机构: Erciyes Univ, Paediat Metab Med Dept, Fac Med, TR-38030 Kayseri, Turkey UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandKasapkara, Cigdem Seher论文数: 0 引用数: 0 h-index: 0机构: Ankara Yildirim Beyazit Univ, Paediat Metab Med Dept, Fac Med, TR-06800 Ankara, Turkey UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandKilic Yildirim, Gonca论文数: 0 引用数: 0 h-index: 0机构: Osmangazi Univ, Paediat Metab Med Dept, Fac Med, TR-26480 Eskisehir, Turkey UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandKor, Deniz论文数: 0 引用数: 0 h-index: 0机构: Cukurova Univ, Paediat Metab Med Dept, Fac Med, TR-01250 Adana, Turkey UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandKose, Melis论文数: 0 引用数: 0 h-index: 0机构: Izmir Katip Celebi Univ, Paediat Metab Med Dept, Fac Med, TR-35620 Izmir, Turkey UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, England论文数: 引用数: h-index:机构:Mundy, Helen论文数: 0 引用数: 0 h-index: 0机构: Guys & St Thomas NHS Fdn Trust, Evelina Childrens Hosp, London SE1 7EH, England UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandO'Sullivan, Siobhan论文数: 0 引用数: 0 h-index: 0机构: Royal Belfast Hosp Sick Children, Belfast BT12 6BA, North Ireland UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandOzturk Hismi, Burcu论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Paediat Metab Med Dept, Fac Med, TR-34854 Istanbul, Turkey UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandRamachandran, Radha论文数: 0 引用数: 0 h-index: 0机构: Guys & St Thomas NHS Fdn Trust, London SE1 7EH, England UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandRoubertie, Agathe论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, MMDN, EPHE, INSERM, F-34090 Montpellier, France Ctr Hospitalier Univ CHU, Expert Ctr Metab & Neurogenet Dis, F-34090 Montpellier, France UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandSanlilar, Mehtap论文数: 0 引用数: 0 h-index: 0机构: Antalya Training & Res Hosp, Paediat Metab Med Dept, TR-07100 Antalya, Turkey UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandSchiff, Manuel论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, F-75015 Paris, France UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandSreekantam, Srividya论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens & Childrens Hosp NHS Fdn Trust, Birmingham B4 6NH, England UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandStepien, Karolina M.论文数: 0 引用数: 0 h-index: 0机构: Salford Royal NHS Fdn Trust, Adult Inherited Metab Dis, Salford M6 8HD, England UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandUzun Unal, Ozlem论文数: 0 引用数: 0 h-index: 0机构: Kocaeli Univ, Paediat Metab Med Dept, Fac Med, TR-41380 Kocaeli, Turkey UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandYildiz, Yilmaz论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Paediat Metab Med Dept, Fac Med, TR-06230 Ankara, Turkey UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandZubarioglu, Tanyel论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Paediat Metab Med Dept, Cerrahpasa Fac Med, TR-34096 Istanbul, Turkey UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, EnglandGissen, Paul论文数: 0 引用数: 0 h-index: 0机构: UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, England Great Ormond St Biomed Res Ctr, Natl Inst Hlth Res, London WC1N 1EH, England Great Ormond St Hosp Children NHS Fdn Trust, Metab Med Dept, London WC1N 3JH, England UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, England
- [40] Case Report: Juvenile Myelomonocytic Leukemia Underlying Ornithine Transcarbamylase Deficiency Safely Treated Using Hematopoietic Stem Cell TransplantationFRONTIERS IN PEDIATRICS, 2022, 10Eguchi, Hiroi论文数: 0 引用数: 0 h-index: 0机构: Saga Univ, Fac Med, Dept Pediat, Saga, Japan Saga Univ, Fac Med, Dept Pediat, Saga, Japan论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Kojima-Ishii, Kanako论文数: 0 引用数: 0 h-index: 0机构: Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka, Japan Saga Univ, Fac Med, Dept Pediat, Saga, JapanNishiyama, Kei论文数: 0 引用数: 0 h-index: 0机构: Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka, Japan Saga Univ, Fac Med, Dept Pediat, Saga, Japan论文数: 引用数: h-index:机构:Matsuo, Muneaki论文数: 0 引用数: 0 h-index: 0机构: Saga Univ, Fac Med, Dept Pediat, Saga, Japan Saga Univ, Fac Med, Dept Pediat, Saga, Japan