Lv1
40 积分 2023-04-04 加入
Evaluation of the clinical, biochemical, genotype and prognosis ofmut-type methylmalonic acidemia in 365 Chinese cases
21天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis ofmut-type methylmalonic acidemia in 365 Chinese cases
23天前
已完结
A New Hemoglobin Variant: Hb Tangshan [ HBA1 : c.239C > T, CD79(GCG > GTG)(Ala > Val)] Detected by MALDI-TOF MS
25天前
已完结
Phenotypic and genotypic analysis of children with methylmalonic academia: A single-center study in China and a recent literature review
25天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
25天前
已完结
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis
1个月前
已完结
Functional characterization of the p.(Gln195His) or Tainan and novel p.(Ser184Cys) or Toluca glucose-6-phosphate dehydrogenase (G6PD) gene natural variants identified through Mexican newborn screening for glucose-6-phosphate dehydrogenase deficiency
1个月前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
1个月前
已完结
To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening
2个月前
已完结
An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency
2个月前
已完结
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