Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: A case report

Journal of Perinatology

Volumn 31, Issue 1, 2011, Pages 70-72

  Ciantelli, M ^a   Ghirri, P ^a   Presi, S ^b   Sigali, E ^a   Vuerich, M ^a   Somaschini, M ^c   Ferrari, M ^b,d,e   Boldrini, A ^a   Carrera, P ^b,d  

^a UNIVERSITY OF PISA   (Italy)

^b Laboraf   (Italy)

^c BOLOGNINI HOSPITAL   (Italy)

^d SAN RAFFAELE HOSPITAL   (Italy)

^e VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

Author keywords

ABCA3; respiratory distress; Surfactant deficiency

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A3; DEXAMETHASONE; FUROSEMIDE; METHIONINE; OXYGEN; PORACTANT; PROLINE; THREONINE; TRYPTOPHAN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; APGAR SCORE; ARTICLE; ARTIFICIAL VENTILATION; BIRTH WEIGHT; BLOOD SAMPLING; CASE REPORT; CESAREAN SECTION; COMPUTER ASSISTED TOMOGRAPHY; CYANOSIS; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPOXEMIA; MALE; MISSENSE MUTATION; NEWBORN; NEWBORN DEATH; POSITIVE END EXPIRATORY PRESSURE; RESPIRATORY DISTRESS; RESPIRATORY FAILURE; RESPIRATORY TRACT INTUBATION; SEQUENCE ANALYSIS; THORAX RADIOGRAPHY;

ATP-BINDING CASSETTE TRANSPORTERS; CONTINUOUS POSITIVE AIRWAY PRESSURE; FATAL OUTCOME; HUMANS; INFANT, NEWBORN; MALE; MUTATION; RADIOGRAPHY, THORACIC; RECURRENCE; RESPIRATORY DISTRESS SYNDROME, NEWBORN; RESPIRATORY INSUFFICIENCY; RETREATMENT; TOMOGRAPHY, X-RAY COMPUTED; TREATMENT FAILURE;

EID: 78650766483     PISSN: 07438346     EISSN: 14765543     Source Type: Journal    
DOI: 10.1038/jp.2010.122     Document Type: Article

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