ZIB

Treffer pro Seite

Treffer 1 - 1 | 1 Treffer

Sortierung

Digitale Medien

Dihydrobiopterin biosynthesis deficiency (1983)

Dhondt, J. L. ; Leroux, B. ; Farriaux, J. P. ; [weitere]

Springer

European journal of pediatrics 141 (1983), S. 92-95

zur Merkliste hinzufügen auf der Merkliste

Details

ISSN: 1432-1076

Schlagwort(e): Hyperphenylalaninemia ; Biopterin ; Tetrahydrobioterin deficiency

Quelle: Springer Online Journal Archives 1860-2000

Thema: Medizin

Notizen: Abstract For the last 2 years, a program has been developed to screen all hyperphenylalaninemic babies for tetrahydrobiopterin deficiency, by measurement of pterins in urine. High neopterin and low biopterin levels were found in the urine of a 1-month-old girl. Further investigations confirmed an impaired conversion of neopterin to biopterin. No neurological signs were noted, but, in regard to the laboratory data, neurotransmitter replacement therapy was instituted at 2.5 months of age. The most remarkable feature was a rapid increase in the dietetic phenylalanine tolerance, despite the proof that the child was not able to clear a challenging dose of phenylalanine and the record of unchanged pathologically low excretion of biopterin during a 2 month period.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF00496797

Permalink

Bibliothek	Standort	Signatur	Band/Heft/Jahr	Verfügbarkeit

Andere fanden auch interessant ...

Artikel (Nationallizenzen)

Volltext

Treffer 1 - 1 | 1 Treffer