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  • 1
    Digitale Medien
    Digitale Medien
    Neuroblastoma in a patient with dihydropteridine reductase deficiency (1990)
    Springer
    European journal of pediatrics 149 (1990), S. 713-715 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Hyperphenylalaninaemia ; Dihydropteridine reductase ; Neuroblastoma ; Microcephaly
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: 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.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF01959529
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Osteopenia and phenylketonuria (1990)
    Springer
    Pediatric radiology 20 (1990), S. 598-599 
    Details
    ISSN: 1432-1998
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Trabecular bone mineral content was assessed by quantitative computed tomography in eleven young adults with phenylketonuria who had been treated from early childhood with a diet restricted in natural protein and supplemented with amino acids, minerals and vitamins. There was a significant reduction in the bone mineral content of patients compared with the normal population. Prospective studies are indicated in younger patients to ensure optimum bone mineralisation is achieved by adulthood.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF02129064
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  • 3
    Digitale Medien
    Digitale Medien
    Radiological assessment of the hand and wrist in phenylketonuria and hyperphenylalaninaemia (1995)
    Springer
    Pediatric radiology 25 (1995), S. 353-355 
    Details
    ISSN: 1432-1998
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract A radiograph of the left hand and wrist was taken in 141 children and young adults with phenylketonuria and hyperphenylalaninaemia. Ten (7.1%) had a bony abnormality and, of these, six (4.3%) showed evidence of reduced bone density. Only one patient had evidence of spiculation of the lower ulnar metaphysis previously described in phenylketonuria. Bone maturity was also assessed in 130 patients by the Tanner-Whitehouse (TW2) method. In 28 patients (21.5%) bone age was less than chronological age by 1 year or more. Bone age delay was greater in younger children on a more restricted diet with a lower intake of natural protein.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF02021701
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