Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene-Reference-Cited by-同舟云学术

Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene

Published:2018-10-30 Issue:12 Volume:6 Page:2451-2456
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Comegna Marika¹²^ORCID,Amato Felice¹²^ORCID,Liguori Renato¹²^ORCID,Berni Canani Roberto¹³⁴^ORCID,Spagnuolo Maria Immacolata³^ORCID,Morroni Manrico⁵^ORCID,Guarino Alfredo³^ORCID,Castaldo Giuseppe¹²^ORCID

Affiliation:

1. Dipartimento di Medicina Molecolare e Biotecnologie Mediche Università di Napoli Federico II Naples Italy

2. CEINGE‐Biotecnologie Avanzate Naples Italy

3. Dipartimento di Scienze Mediche Traslazionali, Sezione di Pediatria Università di Napoli Federico II Naples Italy

4. European Laboratory for the Investigation of Food‐Induced Diseases Università di Napoli Federico II Naples Italy

5. Dipartimento di Medicina Sperimentale e Clinica, Sezione di Neuroscienze e Biologia cellulare Università Politecnica delle Marche Ancona Italy

Funder

Regione Campania

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.1879

Reference29 articles.

1. Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies

2. Congenital Diarrheal Disorders: An Updated Diagnostic Approach

3. Microvillous inclusion disease (microvillous atrophy)

4. Microvillous Inclusion Disease: An Evolving Condition

5. NEW PERSPECTIVES FOR CHILDREN WITH MICROVILLOUS INCLUSION DISEASE: EARLY SMALL BOWEL TRANSPLANTATION

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1. Diet management in congenital diarrheas and enteropathies – general concepts and disease-specific approach, a narrative review;The American Journal of Clinical Nutrition;2024-07

2. Altered MYO5B Function Underlies Microvillus Inclusion Disease: Opportunities for Intervention at a Cellular Level;Cellular and Molecular Gastroenterology and Hepatology;2022

3. NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders;Diagnostics;2021-02-08

4. Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations;Journal of Clinical Medicine;2021-01-28

5. Editing Myosin VB Gene to Create Porcine Model of Microvillus Inclusion Disease, With Microvillus-Lined Inclusions and Alterations in Sodium Transporters;Gastroenterology;2020-06