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Homocystinuria and Other Methioninemias

  • Conference paper
Neonatal Screening for Inborn Errors of Metabolism

Abstract

Homocystinuria due to cystathionine synthase deficiency has been quoted as having a frequency of 1 : 50 000 to 1 : 150 000 of the population [24]. This figure is in keeping with that of Carson of Northern Ireland, where the condition seems most common [7]. It is said to account for 5% of patients with ectopia lentis, and to occur not only in cases of European origin, but also in United States negroes, in Japan, and in India. Over 100 cases have been reported [33].

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Authors
  1. D. H. H. Pullon
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Editor information

Editors and Affiliations

  1. Universitäts-Kinderklinik, Im Neuenheimer Feld 150, 6900, Heidelberg, Germany

    Horst Bickel  & Gerhard Hammersen  & 

  2. Department of Pediatrics, State University of New York at Buffalo, Childrens Hospital, Acheson Hall, Room 352, 3455 Main Street, Buffalo, N.Y., 14214, USA

    Robert Guthrie Ph.D., M.D. (Professor of Pediatrics and Microbiology) (Professor of Pediatrics and Microbiology)

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© 1980 Springer-Verlag Berlin Heidelberg

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Pullon, D.H.H. (1980). Homocystinuria and Other Methioninemias. In: Bickel, H., Guthrie, R., Hammersen, G. (eds) Neonatal Screening for Inborn Errors of Metabolism. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-67488-4_4

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  • DOI: https://doi.org/10.1007/978-3-642-67488-4_4

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-67490-7

  • Online ISBN: 978-3-642-67488-4

  • eBook Packages: Springer Book Archive

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