The natural history of homocystinuria due to cystathionine β-synthase deficiency

An international questionnaire survey has been conducted to define better the natural history of homocystinuria due to cystathionine β-synthase deficiency and permit evaluation of treatment. Data were compiled for 629 patients. Among patients not discovered by newborn screening, B(6)-responsive indi...

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Hauptverfasser: Mudd, S. Harvey, Skovby, Flemming, Levy, Harvey L., Pettigrew, Karen D., Wilcken, Bridget, Pyeritz, Reed E., Andria, G., Boers, Godfried H. J., Bromberg, Irvin L., Cerone, Roberto, Fowler, Brian, Gröbe, H., Schmidt, Hildgund, Schweitzer, Leslie
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1985
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684548/
https://ncbi.nlm.nih.gov/pubmed/3872065
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