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Three Infants with Pathogenic Variants in the ABCA3 Gene: Presentation, Treatment, and Clinical Course
ABCA3 deficiency is a rare cause of neonatal respiratory failure. Biallelic complete loss of function variants lead to neonatal demise without lung transplantation, but children with partial function variants have variable outcomes. The favorable clinical course of 3 such infants presenting with res...
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| Published in: | The Journal of pediatrics 2021-04, Vol.231, p.278-283.e2 |
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| Main Authors: | , , , , , |
| Format: | Article |
| Language: | English |
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| cited_by | cdi_FETCH-LOGICAL-c459t-87ba03d4c5211ada246cd6e534cebec28bc6a129fae2513bed99d41adfb9ac603 |
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| cites | cdi_FETCH-LOGICAL-c459t-87ba03d4c5211ada246cd6e534cebec28bc6a129fae2513bed99d41adfb9ac603 |
| container_end_page | 283.e2 |
| container_issue | |
| container_start_page | 278 |
| container_title | The Journal of pediatrics |
| container_volume | 231 |
| creator | Si, Xin Steffes, Lea C. Schymick, Jennifer C. Hazard, Florette K. Tracy, Michael C. Cornfield, David N. |
| description | ABCA3 deficiency is a rare cause of neonatal respiratory failure. Biallelic complete loss of function variants lead to neonatal demise without lung transplantation, but children with partial function variants have variable outcomes. The favorable clinical course of 3 such infants presenting with respiratory distress at birth is described. |
| doi_str_mv | 10.1016/j.jpeds.2020.12.055 |
| format | article |
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Biallelic complete loss of function variants lead to neonatal demise without lung transplantation, but children with partial function variants have variable outcomes. 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| ispartof | The Journal of pediatrics, 2021-04, Vol.231, p.278-283.e2 |
| issn | 0022-3476 1097-6833 |
| language | eng |
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| source | ScienceDirect Freedom Collection 2022-2024 |
| subjects | ABCA3 ATP-Binding Cassette Transporters - deficiency ATP-Binding Cassette Transporters - genetics Humans Infant, Newborn Male Mutation neonatal respiratory failure Respiratory Distress Syndrome, Newborn - diagnosis Respiratory Distress Syndrome, Newborn - genetics Respiratory Distress Syndrome, Newborn - therapy surfactant deficiency |
| title | Three Infants with Pathogenic Variants in the ABCA3 Gene: Presentation, Treatment, and Clinical Course |
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