Refining the continuum of CFTR-associated disorders in the era of newborn screening

Clinical Genetics

Volumn 89, Issue 5, 2016, Pages 539-549

  Levy, H ^a   Nugent, M ^b   Schneck, K ^a   Stachiw Hietpas, D ^c   Laxova, A ^d   Lakser, O ^e   Rock, M ^d   Dahmer, M K ^a,f   Biller, J ^a   Nasr, S Z ^f   Baker, M ^d,g   Mccolley, S A ^e   Simpson, P ^b   Farrell, P M ^d  

^a Children's Hospital of Wisconsin   (United States)

^b MEDICAL COLLEGE OF WISCONSIN   (United States)

^c Children's Hospital and Health System   (United States)

^d UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^e NORTHWESTERN UNIVERSITY   (United States)

^f UNIVERSITY OF MICHIGAN   (United States)

^g WISCONSIN STATE LABORATORY OF HYGIENE   (United States)

Author keywords

CFTR phenotype genotype correlation; CFTR opathies; Cystic fibrosis; Cystic fibrosis metabolic syndrome; Cystic fibrosis related disorder

Indexed keywords

CHLORIDE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; PANCREATIC ELASTASE; TRYPSINOGEN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; BACTERIUM CULTURE; CHILD; CLASSIFICATION ALGORITHM; CLINICAL FEATURE; COHORT ANALYSIS; CROSS-SECTIONAL STUDY; CYSTIC FIBROSIS; DEMOGRAPHY; FAILURE TO THRIVE; FEMALE; HUMAN; IMMUNOREACTIVITY; INFANT; MAJOR CLINICAL STUDY; MALE; METABOLIC SYNDROME X; METHICILLIN RESISTANT STAPHYLOCOCCUS AUREUS; METHICILLIN RESISTANT STAPHYLOCOCCUS AUREUS INFECTION; MULTICENTER STUDY; NEWBORN; NEWBORN SCREENING; NUTRITIONAL STATUS; PANCREAS FUNCTION; PANCREAS INSUFFICIENCY; PRACTICE GUIDELINE; PRIORITY JOURNAL; PSEUDOMONAS AERUGINOSA; PSEUDOMONAS INFECTION; SCHOOL CHILD; CHEMISTRY; CLASSIFICATION; GENETIC SCREENING; GENETICS; GENOTYPE; HOSPITAL; ISOLATION AND PURIFICATION; METABOLISM; MICROBIOLOGY; MUTATION; PANCREAS; PATHOPHYSIOLOGY; PHYSIOLOGY; PROCEDURES; SWEAT;

ADOLESCENT; CHILD; CHLORIDES; COHORT STUDIES; CROSS-SECTIONAL STUDIES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; GENETIC TESTING; GENOTYPE; HOSPITALS, PEDIATRIC; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; NEONATAL SCREENING; PANCREAS; PSEUDOMONAS AERUGINOSA; SWEAT;

EID: 84955259453     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12711     Document Type: Article

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