Associated Papers
Novel HPD mutation p.A244V compound with p.T219M causing tyrosinemia type III in a Chinese girl and review of the genotype-phenotype spectrum.
Han D et al.
Molecular Genetics & Genomic Medicine, 2024
37817461 (PubMed )
Supplement: MGG3-12-e2298-s002.xlsx › VOUS
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
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