Taozi Du
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View article: Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib
Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib Open
Importance Glycogen storage disease type Ib (GSDIb) is a rare metabolic disorder characterized by impaired glucose-6-phosphate transporter function with limited descriptions. Objective To describe the genetic and clinical features of Chine…
View article: Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome
Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome Open
Background Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by impaired glucose and galactose utilization as well as proximal renal tubular dysfunction. Methods Clinical, biochemical, genetic, treatment, a…
View article: Clinical, genetic profile and therapy evaluation of 11 Chinese paediatric patients with Fanconi-Bickel syndrome
Clinical, genetic profile and therapy evaluation of 11 Chinese paediatric patients with Fanconi-Bickel syndrome Open
Background: Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by impaired glucose and galactose utilization as well as proximal renal tubular dysfunction. Reported FBS data from China are scarce. Methods: C…