Article

Clinical, genetic profile and therapy evaluation of 11 Chinese paediatric patients with Fanconi-Bickel syndrome

2023-11-07

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>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. <bold>Methods:</bold> Clinical, biochemical, genetic, treatment, and follow-up data for 11 paediatric patients with FBS were retrospectively analys...

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Literature Corpus work: 46575249-59a0-5f54-b918-98d4ffee810c
DOI: 10.21203/rs.3.rs-3420135/v1

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