Associated Papers
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed
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
Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review.
Cruz-Camino H et al.
The Journal of International Medical Research, 2020
Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment.
Thodi G et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016
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