Abstract
Homocystinuria is one of the rare metabolic diseases. As with other metabolic conditions, knowledge of the biochemical nature of the problem has vastly increased over the past decade. As a result of the screening programmes on new-born babies in most parts of the world, it has been found that Ireland appears to have one of the highest incidences of homocystinuria. In this country one in 60 000 babies are likely to be affected, whereas in Japan the number of babies with this particular metabolic problem has been estimated to be as low as one in 146 000. Both boys and girls can be affected.
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© 1996 Patricia Gilbert
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Gilbert, P. (1996). Homocystinuria. In: The A-Z Reference Book of Syndromes and Inherited Disorders. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-6918-7_40
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DOI: https://doi.org/10.1007/978-1-4899-6918-7_40
Publisher Name: Springer, Boston, MA
Print ISBN: 978-0-412-64120-6
Online ISBN: 978-1-4899-6918-7
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