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
关键词
Diet; Hepatocellular carcinoma; Liver transplantation; Newborn screening; NTBC; Psychomotor impairment; Succinylacetone; Therapeutic monitoring; Tyrosine;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [21] Cardiovascular status in chronic hypoparathyroidism: a systematic cross-sectional assessment in 168 patients
    Fuss, Carmina Teresa
    Gronemeyer, Karen
    Hermes, Franca
    Doerr, Marcus
    Schmid, Benedikt
    Morbach, Caroline
    Schmidbauer, Lena
    Schlegel, Nicolas
    Fassnacht, Martin
    Koschker, Ann Cathrin
    Nordbeck, Peter
    Hannemann, Anke
    Hahner, Stefanie
    EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2025, 192 (04) : 373 - 384
  • [22] Nociceptive Pain in Patients with Neuromuscular Disorders: A Cross-Sectional Clinical Study
    Sagerer, Elena
    Wirner-Piotrowski, Corinna
    Mijic, Marko
    Arndt, Marcela
    Garcia-Angarita, Natalia
    Schoser, Benedikt
    Wenninger, Stephan
    JOURNAL OF NEUROMUSCULAR DISEASES, 2024, 11 (05) : 1111 - 1122
  • [23] Clinical Characteristics of Headache in Multiple Sclerosis Patients: A Cross-Sectional Study
    Rosciszewska-Zukowska, Iwona
    Galiniak, Sabina
    Bartosik-Psujek, Halina
    JOURNAL OF CLINICAL MEDICINE, 2023, 12 (10)
  • [24] Clinical and biological correlates of resilience in patients with schizophrenia: A cross-sectional study
    Mizuno, Y.
    Suzuki, T.
    Hofer, A.
    Fleischhacker, W. W.
    Uchida, T.
    Yoshida, K.
    Sakurai, H.
    Watanabe, K.
    Mimura, M.
    Uchida, H.
    INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY, 2014, 17 : 102 - 102
  • [25] Clinical Characteristics of Psoriatic Arthritis in Chinese Patients: A Cross-Sectional Study
    Zhibo Song
    Xuerong Deng
    Wenhui Xie
    Borui Li
    Zhuoli Zhang
    Rheumatology and Therapy, 2021, 8 : 1845 - 1857
  • [26] A Cross-Sectional Study for the Spectrum of Clinical Diagnosis in Patients Presenting With Macrocytosis
    Shafaat, Syeda Samia
    Siddiqi, Fuad Ahmad
    Yaseen, Laila
    Siddiqi, Kanaz Ahmad
    Yaseen, Nidda
    Khan, Imran
    Ashraf, Amna
    Khalid, Kanza
    Shahid, Muhammad F.
    Abbas, Naveed
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2024, 16 (02)
  • [27] Clinical profile of patients with renal trauma: A cross-sectional observational study
    Narendra, J. B.
    Ratkal, C. S.
    Keshavamurthy, R.
    Karthikeyan, V. S.
    UROLOGICAL SCIENCE, 2020, 31 (03) : 131 - 135
  • [28] Clinical Characteristics of Psoriatic Arthritis in Chinese Patients: A Cross-Sectional Study
    Song, Zhibo
    Deng, Xuerong
    Xie, Wenhui
    Li, Borui
    Zhang, Zhuoli
    RHEUMATOLOGY AND THERAPY, 2021, 8 (04) : 1845 - 1857
  • [29] Biological and Clinical Correlates of Resilience in Patients with Schizophrenia: A Cross-sectional Study
    Uchida, Hiroyuki
    Mizuno, Yuya
    Hofer, Alex
    Fleischhacker, Wolfgang
    NEUROPSYCHOPHARMACOLOGY, 2014, 39 : S480 - S481
  • [30] Vulvar hidradenitis suppurativa: Clinical cross-sectional study of 25 patients
    Lopez-Llunell, Cristina
    Romani, Jorge
    Garbayo-Salmons, Patricia
    Agut-Busquet, Eugenia
    JOURNAL OF DERMATOLOGY, 2021, 48 (04): : 457 - 463