Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

被引：0

作者：

Sebene Mayorandan

Uta Meyer

Gülden Gokcay

Nuria Garcia Segarra

Hélène Ogier de Baulny

Francjan van Spronsen

Jiri Zeman

Corinne de Laet

Ute Spiekerkoetter

Eva Thimm

Arianna Maiorana

Carlo Dionisi-Vici

Dorothea Moeslinger

Michaela Brunner-Krainz

Amelie Sophia Lotz-Havla

José Angel Cocho de Juan

Maria Luz Couce Pico

René Santer

Sabine Scholl-Bürgi

Hanna Mandel

Yngve Thomas Bliksrud

Peter Freisinger

Luis Jose Aldamiz-Echevarria

Michel Hochuli

Matthias Gautschi

Jessica Endig

Jens Jordan

Patrick McKiernan

Stefanie Ernst

Susanne Morlot

Arndt Vogel

Johannes Sander

Anibh Martin Das

机构：

[1] Hannover Medical School,Clinic for Paediatric Kidney

[2] Istanbul University Faculty of Medicine,, Liver and Metabolic Diseases

[3] Fatih/Capa,Reference Center for Inherited Metabolic Diseases

[4] Hôpital Robert Debré,Section of Metabolic Diseases, Beatrix Children’s Hospital

[5] APHP 48 Boulevard Sérurier,Department of Pediatrics

[6] University Medical Center Groningen,Allgemeine Kinderheilkunde und Jugendmedizin

[7] University of Groningen,Unidad de Enfermedades Metabólicas Congénitas

[8] First Faculty of Medicine,Universitätsklinikum Hamburg

[9] Charles University,Eppendorf

[10] Prague,Department für Kinder

[11] Queen Fabiola Children’s University Hospital,und Jugendheilkunde

[12] Universitätsklinikum Freiburg,Pediatric Metabolic Disorders

[13] Universitätsklinikum Düsseldorf,Universitätspital Zürich, Klinik für Endokrinologie

[14] Bambino Gesù Children’s Hospital,Hannover Medical School, Clinic for Gastroenterology

[15] Universitätsklinik für Kinder- und Jugendheilkunde,Institute of Clinical Pharmacology

[16] Medizinische Universität Graz,Hannover Medical School

[17] Dr.von Haunersches Kinderspital,Hannover Medical School

[18] Hospital Clínico Universitario,undefined

[19] Santiago de Compostela,undefined

[20] Travesía de Choupana,undefined

[21] Klinik und Poliklinik für Kinder-und Jugendmedizin,undefined

[22] Medizinische Universität Innsbruck,undefined

[23] Rambam Medical center,undefined

[24] Oslo University Hospital,undefined

[25] Klinik für Kinder-und Jugendmedizin,undefined

[26] Hospital universitario de Cruces,undefined

[27] Diabetologie und Klinische Ernährung,undefined

[28] Universitätsklinik für Kinderheilkunde,undefined

[29] Inselspital,undefined

[30] Hepatology and Endocrinology,undefined

[31] Hannover Medical School,undefined

[32] Birmingham Children’s Hospital,undefined

[33] Institute for Biometry,undefined

[34] Institute for Cellular and Molecular Pathology,undefined

[35] Screening-Labor Hannover,undefined

来源：

Orphanet Journal of Rare Diseases | / 9卷

关键词：

Diet; Hepatocellular carcinoma; Liver transplantation; Newborn screening; NTBC; Psychomotor impairment; Succinylacetone; Therapeutic monitoring; Tyrosine;

D O I：

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摘要：

引用

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