Reaching the diagnosis of cystic fibrosis - The limits of the spectrum

Israel Medical Association Journal

Volumn 2, Issue 2, 2000, Pages 94-98

  Lotem, Y ^a   Barak, A ^a   Mussaffi, H ^a   Shohat, M ^a   Wilschanski, M ^a   Sivan, Y ^a   Blau, H ^a  

^a SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

Author keywords

Atypical cystic fibrosis; Cystic fibrosis transmembrane regulator; Nasal potential difference

Indexed keywords

AMIKACIN; CHLORIDE; IMIPENEM; ISOPRENALINE; PANCREAS ENZYME; VITAMIN;

ACUTE PANCREATITIS; ADULT; ARTICLE; BRONCHIECTASIS; CAUCASIAN; CHILD; CLINICAL ARTICLE; COUGHING; CYSTIC FIBROSIS; GENE MUTATION; HEAT STROKE; HUMAN; INFANT; LIVER DYSFUNCTION; LUNG DISEASE; MALE; MALE INFERTILITY; MORTALITY; PATIENT COUNSELING; PSEUDOMONAS AERUGINOSA; STENOTROPHOMONAS MALTOPHILIA; SWEAT TEST; TREATMENT OUTCOME;

ADULT; CHILD; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DIAGNOSIS, DIFFERENTIAL; ETHNIC GROUPS; HUMANS; INFANT; ISRAEL; JEWS; LUNG DISEASES; MALE; MIDDLE AGED; PHENOTYPE; SENSITIVITY AND SPECIFICITY; TURKEY;

EID: 0033843054     PISSN: 15651088     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. The cystic fibrosis transmembrane regulator gene
2. The diagnosis of cystic fibrosis: A consensus statement
3. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis
4. Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
5. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentration
6. Mechanism of dysfunction of two nucleotide binding domain mutations in cystic fibrosis transmembrane conductance regulator that are associated with pancreatic sufficiency
7. Clinical management of pulmonary disease in cystic fibrosis
8. Cystic fibrosis: State of the art
9. Cystic fibrosis in an elderly women
10. Mild cystic fibrosis and normal or borderline sweat test in patients with 3849+10Kb C→T mutation
11. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
12. Assisted reproductive technologies and sperm aspiration
13. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis
14. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
15. Current concepts: The diagnosis of cystic fibrosis
16. Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel
17. The frequency of the ΔF508 mutation on cystic fibrosis chromosomes in Israeli families: Correlation of CF haplotypes in Jewish communities and Arabs