Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening.

Twenty obligate carriers of infantile hypophosphatasia (HOPS), a severe autosomal recessive metabolic bone disorder, were studied and compared with 36 controls. Decreased serum alkaline phosphatase activity and increased urinary phosphoethanolamine excretion were confirmed in the HOPS carriers. Rela...

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Bibliographische Detailangaben
Hauptverfasser: Chodirker, B N, Evans, J A, Seargeant, L E, Cheang, M S, Greenberg, C R
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1990
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684979/
https://ncbi.nlm.nih.gov/pubmed/2301398
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