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8 resultsUpdated October 23, 2026

Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1

Pediatric Drugs 21(6) (2019)

Willem G. van Ginkel; Iris L. Rodenburg; Cary O. Harding; Carla E. M. Hollak; Margaretha Rebecca Heiner-Fokkema; Francjan J. van Spronsen

Oxidative Stress, Glutathione Metabolism, and Liver Regeneration Pathways Are Activated in Hereditary Tyrosinemia Type 1 Mice upon Short-Term Nitisinone Discontinuation

Genes 12(1) (2020)

Haaike Colemonts‐Vroninks; Jessie Neuckermans; Lionel Marcélis; Paul Claes; Steven Branson; Georges Jacques Casimir; Philippe J. Goyens; Geert Antoine Martens; Tamara Vanhaecke; Joery De Kock

Clinical Spectrum of Hereditary Tyrosinemia Type 1 in a Cohort of Pakistani Children

Clinical Medicine Insights Pediatrics 18 (2024)

Sabeen Abid Khan; Misbah Fakih; Nida Taufiq; Afaaf Ahmerin; Asfand Bangash; Munir Iqbal Malik

A Review of Metabolic Disorder of Amino Acid Tyrosinemia type I: When to Suspect and how to Diagnose

IOSR Journal of Pharmacy and Biological Sciences 12(02) (2017)

Hanna Alobaidy

New Insights into TMEM147-Related Neurodevelopmental Disorders: A Case Report and Literature Review

Annals of Child Neurology 33(2) (2025)

Abdulaleem Ahmed Assadi; Bashir M. Ayad; Sarah Mohamed Alfaqaih

Revisiting hereditary tyrosinemia Type 1—spectrum of radiological findings

BJR|case reports 5(2) (2018)

Sana Shaikh; Asma Qureshi; Syed Muhammad Faiq

Hereditary tyrosinemia presenting as hepatocellular carcinoma in a young infant

International Journal of Contemporary Pediatrics 8(6) (2021)

Suchitra Sivadas; Praveena Nediyara Bhaskaran; Jayakuma Chandrasekhara Panicker; Rajsekar Chandrasekharan; Chandan Bajad; Anjali Ajith

Hereditary Tyrosinemia Type 1—A Rare Disease with Typical Radiological Features: Case Report and Review of Literature

Journal of Gastrointestinal and Abdominal Radiology 3(S 01) (2020)

Somesh Singh; Rana Vishwadeep Mall; Pragya Chaturvedi; Rajanikant R Yadav