Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization-Reference-Cited by-同舟云学术

Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization

Published:2020-12-13 Issue:4 Volume:99 Page:601-603
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Tabolacci Elisabetta¹^ORCID,Molinario Clelia¹,Marangi Giuseppe¹,Nobile Veronica¹,Arena Vincenzo²³,Mendes Marisa I.⁴,Smith Desiree E. C.⁴,Salomons Gajja S.⁴,Tana Milena⁵,Costa Simonetta⁵,Vento Giovanni⁵⁶,Genuardi Maurizio¹⁷

Affiliation:

1. Fondazione Policlinico Universitario A. Gemelli IRCCS, Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore Rome Italy

2. Department of Woman, Child Health and Public Health, Area of Pathology Fondazione Policlinico Universitario A. Gemelli IRCCS Rome Italy

3. Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Anatomia Patologica Università Cattolica del Sacro Cuore Rome Italy

4. Metabolic Unit, Department of Clinical Chemistry Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology and Metabolism Amsterdam The Netherlands

5. Department of Woman, Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli IRCCS Rome Italy

6. Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Pediatria Università Cattolica del Sacro Cuore Rome Italy

7. Fondazione Policlinico Universitario A. Gemelli IRCCS UOC Genetica Medica Rome Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13893

Reference6 articles.

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

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

3. Clinical feature and molecular diagnostic analysis of the first non‐caucasian child with infantile liver failure syndrome type 1;Lin WX;Zhong Guo Dang Dai Er Ke Za Zhi,2017

4. Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency

5. Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

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1. MRI in LARS1 deficiency—Spectrum, patterns, and correlation with acute neurological deterioration;Journal of Inherited Metabolic Disease;2024-07

2. Two siblings with acute necrotizing encephalopathy associated with variants of LARS1;American Journal of Medical Genetics Part A;2024-06-24

3. Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1;Orphanet Journal of Rare Diseases;2024-06-06