Literature DB >> 33492455

Tubulopathy and hepatomegaly in a 2-year-old boy: Answers.

Pembe Soylu Ustkoyuncu1, Funda Bastug2, Aslıhan Kiraz3, Murat Erdogan3, Esra Eren4, Gokce Yıldız5.   

Abstract

Entities:  

Keywords:  Aminoaciduria; Child; Fanconi-Bickel syndrome; Fasting hypoglycemia; Hepatomegaly; Postprandial hyperglycemia; SLC2A2 mutation

Year:  2021        PMID： 33492455     DOI： 10.1007/s00467-021-04933-z

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


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  6 in total

1.  [Chronic aminoaciduria (amino acid diabetes or nephrotic-glucosuric dwarfism) in glycogen storage and cystine disease].

Authors:  G FANCONI; H BICKEL
Journal:  Helv Paediatr Acta       Date:  1949-11

2.  Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.

Authors:  Sarah Catharina Grünert; Karl Otfried Schwab; Martin Pohl; Jörn Oliver Sass; René Santer
Journal:  Mol Genet Metab       Date:  2011-12-08       Impact factor: 4.797

3.  Phenotypic variability in patients with fanconi-bickel syndrome with identical mutations.

Authors:  Elena Fridman; Avraham Zeharia; Tal Markus-Eidlitz; Yishai Haimi Cohen
Journal:  JIMD Rep       Date:  2014-04-10

4.  The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.

Authors:  René Santer; Sebastian Groth; Martina Kinner; Anja Dombrowski; Gerard T Berry; Johannes Brodehl; James V Leonard; Shimon Moses; Svante Norgren; Flemming Skovby; Reinhard Schneppenheim; Beat Steinmann; Jürgen Schaub
Journal:  Hum Genet       Date:  2001-11-17       Impact factor: 4.132

5.  A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis.

Authors:  Tuğba Taştemel-Öztürk; Berrak Bilginer-Gürbüz; Özlem Tekşam; Serap Sivri
Journal:  Turk J Pediatr       Date:  2017       Impact factor: 0.552

6.  An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation.

Authors:  Devi Dayal; Parag Dekate; Sheetal Sharda; Ashim Das; Savita Attri
Journal:  J Pediatr Genet       Date:  2013-06
  6 in total
  1 in total

1.  Understanding the Mechanism of Dysglycemia in a Fanconi-Bickel Syndrome Patient.

Authors:  Sanaa Sharari; Mustapha Aouida; Idris Mohammed; Basma Haris; Ajaz Ahmad Bhat; Iman Hawari; Sabah Nisar; Igor Pavlovski; Kabir H Biswas; Najeeb Syed; Selma Maacha; Jean-Charles Grivel; Maryam Saifaldeen; Johan Ericsson; Khalid Hussain
Journal:  Front Endocrinol (Lausanne)       Date:  2022-05-18       Impact factor: 6.055
  1 in total

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