Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Life Sciences, Genetics, Molecular Genetics +14

Epidemiology of mucopolysaccharidoses

Shaukat Khan, Hira Peracha, Diana Ballhausen et al. · Molecular Genetics and Metabolism · 2017 · 1.1K citations

Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase

Sandra Lindstedt · The Lancet · 1992 · 641 citations

Life Sciences, Biochemistry, Pharmacology +10

Executive Summary

Michael S. Watson, Marie Y. Mann, Michele A. Lloyd-Puryear et al. · Genetics in Medicine · 2006 · 487 citations · Full text

Education, Elementary Education, Instruction +16

Neurologic Crises in Hereditary Tyrosinemia

Grant A. Mitchell, Jean Larochelle, Marie Lambert et al. · New England Journal of Medicine · 1990 · 235 citations

Medicine, Neurology, Pediatrics +16