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

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Mayorandan, Sebene ^a   Meyer, Uta ^a   Gokcay, Gülden ^b   Segarra, Nuria Garcia ^c   De Baulny, Hélène Ogier ^c   Van Spronsen, Francjan ^d   Zeman, Jiri ^e   De Laet, Corinne ^f   Spiekerkoetter, Ute ^g   Thimm, Eva ^h   Maiorana, Arianna ⁱ   Dionisi Vici, Carlo ⁱ   Moeslinger, Dorothea ^j   Brunner Krainz, Michaela ^k   Lotz Havla, Amelie Sophia ^l   Cocho De Juan, José Angel ^m   Couce Pico, Maria Luz ^m   Santer, René ⁿ   Scholl Bürgi, Sabine ^o   Mandel, Hanna ^p   Bliksrud, Yngve Thomas ^q   Freisinger, Peter ^r   Aldamiz Echevarria, Luis Jose ^s   Hochuli, Michel ^t   Gautschi, Matthias ^u   Endig, Jessica ^a   Jordan, Jens ^a   McKiernan, Patrick ^v   Ernst, Stefanie ^a   Morlot, Susanne ^a   Vogel, Arndt ^a   Sander, Johannes ^w   Das, Anibh Martin ^a   more..

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b ISTANBUL UNIVERSITY   (Turkey)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d UNIVERSITY OF GRONINGEN   (Netherlands)

^e CHARLES UNIVERSITY   (Czech Republic)

^f HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^g UNIVERSITY OF FREIBURG   (Germany)

^h UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

ⁱ BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^j UNIV KLIN KINDER JUGENDHEILKUNDE   (Austria)

^k MEDICAL UNIVERSITY OF GRAZ   (Austria)

^l LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^m University Hospital of Santiago de Compostela   (Spain)

ⁿ UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^o Universitatsklinik fur Kinder und Jugendheilkunde Innsbruck   (Austria)

^p RAMBAM MEDICAL CENTER   (Israel)

^q OSLO UNIVERSITY HOSPITAL   (Norway)

^r Niedergelassener Facharzt für Kinder und Jugendmedizin   (Germany)

^s HOSPITAL DE CRUCES   (Spain)

^t UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^u UNIVERSITY OF BERN   (Switzerland)

^v BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^w Screening Labor Hannover   (Germany)

more..

Author keywords

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

Indexed keywords

ALANINE AMINOTRANSFERASE; AMINOLEVULINIC ACID; ASPARTATE AMINOTRANSFERASE; CALCIUM; CREATININE; CYSTATIN C; ESSENTIAL AMINO ACID; FETOPROTEIN; GAMMA GLUTAMYLTRANSFERASE; NITISINONE; PHENYLALANINE; PHOSPHATE; SUCCINYLACETONE; TUMOR MARKER; TYROSINE; UREA; CYCLOHEXANONE DERIVATIVE; ENZYME INHIBITOR; NITROBENZOIC ACID DERIVATIVE;

ACUTE LIVER FAILURE; ADOLESCENT; AMINO ACID BLOOD LEVEL; ARTICLE; BEHAVIOR DISORDER; BLEEDING TENDENCY; BLOOD SAMPLING; CALCIUM BLOOD LEVEL; CLINICAL PRACTICE; COGNITIVE DEFECT; CONJUNCTIVITIS; CONSANGUINITY; CONSTIPATION; CONVULSION; CREATININE BLOOD LEVEL; CROSS-SECTIONAL STUDY; DIET THERAPY; DIETARY COMPLIANCE; DRUG BLOOD LEVEL; EARLY DIAGNOSIS; ECZEMA; EUROPE; EYE PAIN; FEMALE; FOLLOW UP; GENE MUTATION; GROWTH RETARDATION; HEPATOMEGALY; HEPATORENAL TYROSINEMIA; HUMAN; INFANT; ISRAEL; KIDNEY DISEASE; KIDNEY FUNCTION TEST; KIDNEY TUBULE DISORDER; LEUKOPENIA; LIVER CELL CARCINOMA; LIVER CIRRHOSIS; LIVER DYSFUNCTION; LIVER FUNCTION TEST; LIVER NODULE; LIVER TRANSPLANTATION; MAINTENANCE THERAPY; MAJOR CLINICAL STUDY; MALE; MASS SCREENING; METABOLIC REGULATION; MYOCLONUS; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; OCULAR PRURITUS; OPHTHALMOLOGY; OUTCOME ASSESSMENT; PRENATAL DIAGNOSIS; PROTEIN RESTRICTION; PSYCHOMOTOR DISORDER; QUESTIONNAIRE; RETROSPECTIVE STUDY; SYMPTOM; THROMBOCYTOPENIA; TURKEY (REPUBLIC); TYROSINEMIA; UREA BLOOD LEVEL; URINALYSIS; CHILD; CLINICAL TRIAL; LIVER FAILURE; MULTICENTER STUDY; NEWBORN; PRESCHOOL CHILD; PROCEDURES; RARE DISEASES; RENAL INSUFFICIENCY; TREATMENT OUTCOME; TYROSINEMIAS; YOUNG ADULT;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CROSS-SECTIONAL STUDIES; CYCLOHEXANONES; ENZYME INHIBITORS; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT; INFANT, NEWBORN; LIVER FAILURE; LIVER TRANSPLANTATION; MALE; NEONATAL SCREENING; NITROBENZOATES; RARE DISEASES; RENAL INSUFFICIENCY; RETROSPECTIVE STUDIES; SURVEYS AND QUESTIONNAIRES; TREATMENT OUTCOME; TYROSINEMIAS; YOUNG ADULT;

EID: 84906550007     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-014-0107-7     Document Type: Article

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