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Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc.
Genotype-phenotype correlations in 9q34.3 microdeletion syndrome: a study of 35 Mainland Chinese patients.
Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China.
Analysis of hydroxocobalamin dosage in patients with CblC deficiency.
Long-term outcome of CblC deficiency complicated with pulmonary hypertension.