Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations-Reference-Cited by-同舟云学术

Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations

Published:2020-12-10 Issue:3 Volume:185 Page:866-870
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Hirata Katsuya¹^ORCID,Okamoto Nobuhiko²,Ichikawa Chihiro³,Inoue Shouta¹,Nozaki Masatoshi¹,Banno Kimihiko⁴,Takenouchi Toshiki⁵⁶^ORCID,Suzuki Hisato⁶^ORCID,Kosaki Kenjiro⁶

Affiliation:

1. Department of Neonatal Medicine Osaka Women's and Children's Hospital Izumi Japan

2. Department of Medical Genetics Osaka Women's and Children's Hospital Izumi Japan

3. Department of Laboratory Medicine Osaka Women's and Children's Hospital Izumi Japan

4. Department of Physiology II Nara Medical University Nara Japan

5. Department of Pediatrics Keio University School of Medicine Tokyo Japan

6. Center for Medical Genetics Keio University School of Medicine Tokyo Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62012

Reference13 articles.

1. Liver Fibrosis in an Extremely Small Infant for Gestational Age

2. LARS mutations in non-Irish travelers: An under-recognized multi-system disorder characterized by infantile hepatopathy during physiological stress

3. Intrauterine Growth Restriction Impacts Tolerance to Total Parenteral Nutrition in Extremely Low Birth Weight Infants

4. Identification of a mutation in LARS as a novel cause of infantile hepatopathy

5. Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS

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