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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
Mayorandan, Sebene; Meyer, Uta; Gokcay, Gülden; Segarra, Nuria Garcia; de Baulny, Hélène Ogier; van Spronsen, Francjan; Zeman, Jiri; de Laet, Corinne; Spiekerkoetter, Ute; Thimm, Eva; Maiorana, Arianna; Dionisi-Vici, Carlo; Moeslinger, Dorothea; Brunner-Krainz, Michaela; Lotz-Havla, Amelie Sophia; Cocho de Juan, José Angel; Couce Pico, Maria Luz; Santer, René; Scholl-Bürgi, Sabine; Mandel, Hanna; Bliksrud, Yngve Thomas; Freisinger, Peter; Aldamiz-Echevarria, Luis Jose; Hochuli, Michel; Gautschi, Matthias; Endig, Jessica; Jordan, Jens; McKiernan, Patrick; Ernst, Stefanie; Morlot, Susanne; Vogel, Arndt; Sander, Johannes; Das, Anibh Martin.
Afiliación
  • Mayorandan S; Clinic for Paediatric Kidney-, Liver and Metabolic Diseases, Hannover Medical School, Carl-Neuberg-Str.1, D-30625, Hannover, Germany. sebene.mayorandan@ukmuenster.de.
  • Meyer U; Clinic for Paediatric Kidney-, Liver and Metabolic Diseases, Hannover Medical School, Carl-Neuberg-Str.1, D-30625, Hannover, Germany. meyer.uta@mh-hannover.de.
  • Gokcay G; Istanbul University Faculty of Medicine, Fatih/Capa, Istanbul, 34093, Turkey. gfgokcay@superonline.com.
  • Segarra NG; Reference Center for Inherited Metabolic Diseases, Hôpital Robert Debré, APHP 48 Boulevard Sérurier, F-75019, Paris, France. Nuria.garcia-segarra@chuv.ch.
  • de Baulny HO; Reference Center for Inherited Metabolic Diseases, Hôpital Robert Debré, APHP 48 Boulevard Sérurier, F-75019, Paris, France. helene.ogier@rdb.aphp.fr.
  • van Spronsen F; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9713 GZ, Groningen, The Netherlands. f.j.van.spronsen@umcg.nl.
  • Zeman J; Department of Pediatrics, First Faculty of Medicine, Charles University, Prague, Ke Karlovu 2, Prague 2, 128 08, Czech Republic. Jiri.zeman@vfn.cz.
  • de Laet C; Queen Fabiola Children's University Hospital, Avenue Crocq 15, B-1020, Brussels, Belgium. corinne.delaet@huderf.be.
  • Spiekerkoetter U; Allgemeine Kinderheilkunde und Jugendmedizin, Universitätsklinikum Freiburg, Mathildenstr. 1, D-79106, Freiburg, Germany. ute.spiekerkoetter@uniklinik-freiburg.de.
  • Thimm E; Universitätsklinikum Düsseldorf, Moorenstr. 5, D-40225, Düsseldorf, Germany. eva.thimm@med.uni-duesseldorf.de.
  • Maiorana A; Bambino Gesù Children's Hospital, Piazza Sant'Onofrio, 4, 00165, Rome, Italy. arianna.maiorana@opbg.net.
  • Dionisi-Vici C; Bambino Gesù Children's Hospital, Piazza Sant'Onofrio, 4, 00165, Rome, Italy. carlo.dionisivici@opbg.net.
  • Moeslinger D; Universitätsklinik für Kinder- und Jugendheilkunde, Währinger Gürtel 18-20, 1090, Wien, Austria. dorothea.moeslinger@meduniwien.ac.at.
  • Brunner-Krainz M; Medizinische Universität Graz, Auenbruggerplatz 2, A-8036, Graz, Austria. Michaela.Brunner-Krainz@klinikum-graz.at.
  • Lotz-Havla AS; Dr.von Haunersches Kinderspital, Lindwurmstr. 4, D-80337, München, Germany. amelie.lotz@med.uni-muenchen.de.
  • Cocho de Juan JA; Unidad de Enfermedades Metabólicas Congénitas, Hospital Clínico Universitario, Santiago de Compostela, Travesía de Choupana, s/n 15706, Santiago de Compostela, Spain. jose.cocho.de.juan@sergas.es.
  • Couce Pico ML; Unidad de Enfermedades Metabólicas Congénitas, Hospital Clínico Universitario, Santiago de Compostela, Travesía de Choupana, s/n 15706, Santiago de Compostela, Spain. maria.luz.couce.pico@sergas.es.
  • Santer R; Universitätsklinikum Hamburg-Eppendorf, Klinik und Poliklinik für Kinder-und Jugendmedizin, Martinistr. 52, D-20246, Hamburg, Germany. r.santer@uke.uni-hamburg.de.
  • Scholl-Bürgi S; Department für Kinder-und Jugendheilkunde, Medizinische Universität Innsbruck, Anichstrasse 35, A-6020, Innsbruck, Austria. sabine.scholl-buergi@uki.at.
  • Mandel H; Pediatric Metabolic Disorders, Rambam Medical center, 6 Ha'Aliya Street, Post Box No 9602, Haifa, Haifa, 31096, Israel. h_mandel@rambam.health.gov.il.
  • Bliksrud YT; Oslo University Hospital, P.B. 4950, Nydalen, 0424, Oslo, Norway. yngve.thomas.bliksrud@ous-hf.no.
  • Freisinger P; Klinik für Kinder-und Jugendmedizin, Steinenbergstr. 31, D-72764, Reutlingen, Germany. freisinger_p@klin-rt.de.
  • Aldamiz-Echevarria LJ; Hospital universitario de Cruces, Plaza de Cruces, 12, 48903, San Vicente de Barakaldo, Spain. LUISJOSE.ALDAMIZ-ECHEVARAZUARA@osakidetza.net.
  • Hochuli M; Universitätspital Zürich, Klinik für Endokrinologie, Diabetologie und Klinische Ernährung, Rämistrasse 100, CH-8091, Zürich, Switzerland. michel.hochuli@usz.ch.
  • Gautschi M; Universitätsklinik für Kinderheilkunde, Inselspital, Freiburgstrasse 7, CH-3010, Bern, Switzerland. Matthias.Gautschi@insel.ch.
  • Endig J; Hannover Medical School, Clinic for Gastroenterology, Hepatology and Endocrinology, Carl-Neuberg-Str.1, D-30625, Hannover, Germany. Endig.jessica@mh-hannover.de.
  • Jordan J; Institute of Clinical Pharmacology, Hannover Medical School, Carl-Neuberg-Str.1, D-30625, Hannover, Germany. Jordan.jens@mh-hannover.de.
  • McKiernan P; Birmingham Children's Hospital, Steelhouse Ln, Birmingham, B4 6NH, United Kingdom. pat.mckiernan@bch.nhs.uk.
  • Ernst S; Hannover Medical School, Institute for Biometry, Carl-Neuberg-Str.1, D-30625, Hannover, Germany. Ernst.stefanie@mh-hannover.de.
  • Morlot S; Hannover Medical School, Institute for Cellular and Molecular Pathology, Carl-Neuberg-Str.1, D-30625, Hannover, Germany. Morlot.susanne@mh-hannover.de.
  • Vogel A; Hannover Medical School, Clinic for Gastroenterology, Hepatology and Endocrinology, Carl-Neuberg-Str.1, D-30625, Hannover, Germany. Vogel.Arndt@mh-hannover.de.
  • Sander J; Screening-Labor Hannover, Am Steinweg 11A/13B, D-30952, Ronnenberg/Benthe, Germany. j.sander@metabscreen.de.
  • Das AM; Clinic for Paediatric Kidney-, Liver and Metabolic Diseases, Hannover Medical School, Carl-Neuberg-Str.1, D-30625, Hannover, Germany. das.anibh@mh-hannover.de.
Orphanet J Rare Dis ; 9: 107, 2014 Aug 01.
Article en En | MEDLINE | ID: mdl-25081276
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tamizaje Neonatal / Tirosinemias / Ciclohexanonas / Inhibidores Enzimáticos / Nitrobenzoatos Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies / Prevalence_studies / Prognostic_studies / Screening_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2014 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tamizaje Neonatal / Tirosinemias / Ciclohexanonas / Inhibidores Enzimáticos / Nitrobenzoatos Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies / Prevalence_studies / Prognostic_studies / Screening_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2014 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido