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6 resultsUpdated October 20, 2026

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1

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

Annals of Child Neurology 33(2) (2025)

Abdulaleem Ahmed Assadi; Bashir Mohamed Ayad; Sarah Mohamed Alfagaih

2

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; Rajnikant R. Yadav

3

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; M. Rebecca Heiner-Fokkema; Francjan J. van Spronsen

4

Revisiting hereditary tyrosinemia Type 1—spectrum of radiological findings

BJR|case reports 5(2) (2019)

Sana Shaikh; Asma Qureshi; Syed Mohammad faiq

5

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

6

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 Marcelis; Paul Claes; Steven Branson; Georges Casimir; Philippe Goyens; Geert A. Martens; Tamara Vanhaecke; Joery De Kock