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  • 1990-1994  (2)
  • 1
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Pediatric anesthesia 2 (1992), S. 0 
    ISSN: 1460-9592
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: A 4-week-old infant developed a life-threatening haemorrhage following pyloromyotomy. Subsequent investigations revealed unsuspected Christmas disease (Haemophilia B). This case emphasises the importance of considering a diagnosis of haemophilia in a child with unexplained bleeding, even in the absence of a positive family history.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 149 (1990), S. 713-715 
    ISSN: 1432-1076
    Keywords: Hyperphenylalaninaemia ; Dihydropteridine reductase ; Neuroblastoma ; Microcephaly
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Tetrahydrobiopterin (BH4) deficiency is a rare cause of hyperphenylalaninaemia (HPA) and usually leads to progressive neurological deterioration despite early dietary control of plasma phenylalanine concentrations. Dihydropteridine reductase (DHPR) deficiency is the most severe cause with respect to a fatal outcome. We report a 7-year-old girl with HPA diagnosed on neonatal Guthrie screening who at the age of 6 months had cytotoxic therapy for an adrenal neuroblastoma which secreted catecholamines. When 4 years old she was found to have DHPR deficiency. Although developmentally retarded and microcephalic she has failed to develop the florid neurological features often associated with the condition.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
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