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Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: Recommendation for expanded newborn screening in Hong Kong

Tyrosinemia TypeMendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic EpidemiologyHong KongPathologyNovel Fah MutationsPrenatal DiagnosisMedicineClinical Genetics