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Clinical Features and Genetic Sequencing of Children with Fanconi-Bickel Syndrome.

Indian journal of pediatrics - 1 Feb 2023

Govindarajan Srinivasavaradan, Khandelwal Priyanka, Sharma Shally, Agarwala Anuja, Sinha Aditi, Hari Pankaj, Bagga Arvind

Abstract excerpt

The present paper reports 10 patients (9 families) with Fanconi-Bickel syndrome managed during 2010-2021. Patients presented with polyuria, polydipsia, hepatomegaly, rickets, and stunting at a median of 5 (3, 7.3) mo; one had transient neonatal diabetes. Glucosuria, generalized aminoaciduria, β2-microglobinuria, urinary phosphate wasting, and hypercalciuria were present in all patients; 3 patients had...

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PMID: 36324017
DOI: 10.1007/s12098-022-04372-0

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