Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance-Reference-Cited by-同舟云学术

Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance

Published:2020-03-06 Issue:6 Volume:8 Page:1010-1014
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Dimitriou Christos¹,Saliba Souha¹,Peyrassol Xavier²,Ben Abbou Wafa³,Nassogne Marie Cécile⁴,Neugroschl Carine¹,Wiame Elsa⁵,De Leener Anne⁶,Cassart Marie¹³^ORCID

Affiliation:

1. Department of Radiology Iris Hospitals South Brussels Belgium

2. Molecular Genetic Laboratory ULB Erasme Brussels Belgium

3. Department of Fetal Medicine Iris Hospitals South Brussels Belgium

4. Department of Pediatric Neurology and hereditary metabolic diseases CHU Saint‐ Luc Brussels Belgium

5. Laboratory of Biochemistry de Duve Institute Brussels Belgium

6. Department of Genetics CHU Saint‐Luc Brussels Belgium

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.2780

Reference15 articles.

1. Functional analysis of novel mutations in y+LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI)

2. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

3. Lysinuric protein intolerance: Reviewing concepts on a multisystem disease

4. Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

5. Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance

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1. A novel variant in a Chinese boy with lysinuric protein intolerance: A case report and literature review;Heliyon;2024-03

2. Postnatal outcome of children with antenatal colonic hyperechogenicity;Prenatal Diagnosis;2023-12-06