Purine nucleoside phosphorylase deficiency with fatal course in two sisters

European Journal of Pediatrics

Volumn 169, Issue 3, 2010, Pages 311-314

  Aytekin, Caner ^a   Dogu, Figen ^b   Tanir, Gonul ^a   Guloglu, Deniz ^b   Santisteban, Ines ^c   Hershfield, Michael S ^c   Ikinciogullari, Aydan ^b  

^a DR SAMI ULUS CHILDREN S HOSPITAL   (Turkey)

^b ANKARA UNIVERSITY   (Turkey)

^c DUKE UNIVERSITY   (United States)

Author keywords

Aspergillus fumigatus; Purine nucleoside phosphorylase deficiency; Sclerosing cholangitis; Tuberculosis

Indexed keywords

ACICLOVIR; ALANINE; AMPHOTERICIN B LIPID COMPLEX; ANTIFUNGAL AGENT; ANTIVIRUS AGENT; BCG VACCINE; ETHAMBUTOL; GRANULOCYTE COLONY STIMULATING FACTOR; IMMUNOGLOBULIN; ISONIAZID; NUCLEOTIDE; PURINE NUCLEOSIDE PHOSPHORYLASE; RIFAMPICIN; STREPTOMYCIN; THREONINE; URSODEOXYCHOLIC ACID;

ARTICLE; ASPERGILLUS FUMIGATUS; BRONCHIECTASIS; CASE REPORT; CHILD; DELAYED DIAGNOSIS; DISEASE COURSE; FEMALE; HUMAN; LIVER ABSCESS; LUNG AUSCULTATION; LUNG TUBERCULOSIS; MUTATION; MYCOBACTERIOSIS; MYCOBACTERIUM TUBERCULOSIS; NEUTROPENIA; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY; SCHOOL CHILD; SCLEROSING CHOLANGITIS; THORAX RADIOGRAPHY; TUBERCULOUS LYMPHADENITIS;

CHILD; CHILD, PRESCHOOL; CHOLANGITIS, SCLEROSING; FATAL OUTCOME; FEMALE; HUMANS; LIVER ABSCESS; MUTATION; MYCOBACTERIUM BOVIS; PURINE-NUCLEOSIDE PHOSPHORYLASE; TUBERCULOSIS;

EID: 77949270832     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-009-1029-6     Document Type: Article

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