Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome-Reference-Cited by-同舟云学术

Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome

Published:2020-01 Issue:3 Volume:43 Page:540-548
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Pennisi Alessandra¹²³,Maranda Bruno¹⁴,Benoist Jean‐François¹,Baudouin Véronique⁵,Rigal Odile¹,Pichard Samia¹,Santer René⁶,Romana Lepri Francesca⁷,Novelli Antonio⁷,Ogier de Baulny Hélène¹,Dionisi‐Vici Carlo²,Schiff Manuel¹⁸⁹

Affiliation:

1. Reference Centre for Inborn Errors of Metabolism Robert‐Debré University Hospital Paris France

2. Division of Metabolic Diseases, Department of Paediatric Specialties Bambino Gesù Children's Hospital Rome Italy

3. Department of Pediatrics University La Sapienza of Rome Rome Italy

4. Department of Medical Genetics Université de Sherbrooke Sherbrooke Québec Canada

5. Department of Paediatric Nephrology Robert‐Debré University Hospital Paris France

6. Department of Paediatrics University Medical Centre Eppendorf Hamburg Germany

7. Laboratory of Medical Genetics Bambino Gesù Children's Hospital IRCCS Rome Italy

8. UMR1141, PROTECT, INSERM Paris University Paris France

9. Reference Centre for Inborn Errors of Metabolism Necker University Hospital Paris France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12203

Reference19 articles.

1. Chronic aminoaciduria (amino acid diabetes or nephrotic‐glucosuric dwarfism) in glycogen storage and cystine disease;Fanconi G;Helv Paediatr Acta,1949

2. Fanconi-Bickel syndrome - the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature

3. Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation

4. Phenotypic variability in patients with fanconi‐bickel syndrome with identical mutations;Fridman E;JIMD Rep,2015

5. Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects

Cited by 19 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi‐Bickel syndrome with empagliflozin;Journal of Inherited Metabolic Disease;2024-05-27

2. Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care;Reviews in Endocrine and Metabolic Disorders;2024-04-01

3. Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome;BMC Pediatrics;2024-03-07

4. Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome;Orphanet Journal of Rare Diseases;2024-02-16

5. “A Complex Conundrum”- Fanconi-Bickel Syndrome;JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH;2024