Sarah Householder1,2,†
Ruchit Nagar1,2,†
Nisarg Shah3
Jodi Forward4
Sean Bickerton1
Pramod Mistry5
E. Vincent S. Faustino6*
- 1Department of Pediatrics, Yale-New Haven Hospital, New Haven, CT, United States
- 2Department of Internal Medicine, Yale-New Haven Hospital, New Haven, CT, United States
- 3Yale School of Medicine, New Haven, CT, United States
- 4Secion of Hematology/Oncology, Department of Pediatrics, Yale-New Haven Hospital, New Haven, CT, United States
- 5Section of Digestive Diseases, Department of Internal Medicine, Yale School of Medicine, New Haven, CT, United States
- 6Section of Critical Care, Department of Pediatrics, Yale School of Medicine, New Haven, CT, United States
A Correction on
Case report: diagnosis of Gaucher disease in a toddler with acute respiratory failure
By Householder S, Nagar R, Shah N, Forward J, Bickerton S, Mistry P and Faustino EVS (2025). Front. Pediatr. 13:1476541. doi: 10.3389/fped.2025.1476541
In the published article, there was an error. We refer to a specific gene mutation as “p.L484P”. However the correct gene is actually “p.L483P”.
A correction has been made to the Abstract. This sentence previously stated:
“Rapid whole genome sequence showed a compound heterozygote mutation in the GBA1 gene involving a maternally inherited known pathogenic variant, p.L484P, and a paternally inherited novel likely pathogenic variant, p.P358l.”
The corrected sentence appears below:
“Rapid whole genome sequence showed a compound heterozygote mutation in the GBA1 gene involving a maternally inherited known pathogenic variant, p.L483P, and a paternally inherited novel likely pathogenic variant, p.P358l.”
A correction has also been made to Case Presentation, Paragraph 6. This sentence previously stated:
“One variant (p.L484P) was an established disease mutation associated with neuronal subtype of Gaucher disease when present in homozygous state.”
The corrected sentence appears below:
“One variant (p.L483P) was an established disease mutation associated with neuronal subtype of Gaucher disease when present in homozygous state.”
The original article has been updated.
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Keywords: Gaucher disease, stridor, pediatric ARDS, gene replacement therapy, case report
Citation: Householder S, Nagar R, Shah N, Forward J, Bickerton S, Mistry P and Faustino EVS (2025) Correction: Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure. Front. Pediatr. 13:1651138. doi: 10.3389/fped.2025.1651138
Received: 20 June 2025; Accepted: 14 July 2025;
Published: 12 August 2025.
Edited and Reviewed by: Cinzia Ciccacci, Saint Camillus International University of Health and Medical Sciences, Italy
Copyright: © 2025 Householder, Nagar, Shah, Forward, Bickerton, Mistry and Faustino. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
*Correspondence: E. Vincent S. Faustino, dmluY2UuZmF1c3Rpbm9AeWFsZS5lZHU=
†These authors share first authorship