Literature DB >> 3200274

A new variant of biopterin deficiency.

M Blaskovics, T A Giudici.   

Abstract

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Year:  1988        PMID： 3200274     DOI： 10.1056/NEJM198812153192420

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  3 in total

1.  Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives.

Authors:  N Blau; L Kierat; H C Curtius; M Blaskovics; T Giudici
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).

Authors:  B Thöny; F Neuheiser; L Kierat; M Blaskovics; P H Arn; P Ferreira; I Rebrin; J Ayling; N Blau
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

Review 3.  Abnormalities of biogenic amine metabolism.

Authors:  K Hyland
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982
  3 in total

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