Literature DB >> 3338165

Galactosemia detection from phenylketonuria screening.

M J Henderson1, L Shapiro, C McCowan.   

Abstract

We describe a case of classical galactosemia in which the diagnosis was first suggested by the finding of a moderately increased blood-spot phenylalanine concentration. The child was clinically unaffected at six days when the initial sample was collected. Prompt institution of dietary management averted a serious metabolic crisis.

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Year:  1988        PMID: 3338165

Source DB:  PubMed          Journal:  Clin Chem        ISSN: 0009-9147            Impact factor:   8.327


  1 in total

1.  Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.

Authors:  Patricia P Jumbo-Lucioni; Kathryn Garber; John Kiel; Ivo Baric; Gerard T Berry; Annet Bosch; Alberto Burlina; Ana Chiesa; Maria Luz Couce Pico; Sylvia C Estrada; Howard Henderson; Nancy Leslie; Nicola Longo; Andrew A M Morris; Carlett Ramirez-Farias; Susanne Schweitzer-Krantz; Susanne Scheweitzer-Krantz; Catherine Lynn T Silao; Marcela Vela-Amieva; Susan Waisbren; Judith L Fridovich-Keil
Journal:  J Inherit Metab Dis       Date:  2012-03-27       Impact factor: 4.982

  1 in total

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