Newborn screening for severe combined immunodeficiency: An opportunity for intervention

Journal of Perinatology

Volumn 33, Issue 8, 2013, Pages 657-658

  Buchbinder, D ^a   Puthenveetil, G ^a   Soni, A ^a   Hsieh, L ^a   Nugent, D ^a   Church, J A ^b  

^a CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

adenosine deaminase deficiency; newborn screening; primary immunodeficiency; severe combined immune deficiency

Indexed keywords

ADENOSINE DEAMINASE; HEMOGLOBIN; PEGADEMASE;

ABDOMINAL DISTENSION; ADENOSINE DEAMINASE GENE; ARTICLE; BODY HEIGHT; BODY WEIGHT; BRONCHIOLITIS; CASE REPORT; CLINICAL EVALUATION; CYANOSIS; DISEASE ASSOCIATION; EMBRYO; ENZYME DEFICIENCY; FEMALE; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HELLP SYNDROME; HEMATOCRIT; HUMAN; INFANT; LEUKOCYTE COUNT; LYMPHOCYTOPENIA; MEDICAL HISTORY; MISSENSE MUTATION; MUTATOR GENE; NEUTROPENIA; NEWBORN SCREENING; NUTRITIONAL INTOLERANCE; PERIORAL CYANOSIS; PHYSICAL EXAMINATION; RESPIRATORY DISTRESS; SEVERE COMBINED IMMUNODEFICIENCY; STOP CODON; THROMBOCYTE COUNT; THROMBOCYTOPENIA;

ADENOSINE DEAMINASE; DISEASES IN TWINS; FEMALE; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 84881119975     PISSN: 07438346     EISSN: 14765543     Source Type: Journal    
DOI: 10.1038/jp.2013.30     Document Type: Article

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