First manifestation of citrullinemia type I as Sandifer syndrome
First manifestation of citrullinemia type I as Sandifer syndrome
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Publisher
Turkey: Hacettepe University Faculty of Medicine
Journal title
Language
English
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Publisher
Turkey: Hacettepe University Faculty of Medicine
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Scope and Contents
Contents
We report an eleven-month-old infant girl who presented as Sandifer syndrome clinically but was later diagnosed with citrullinemia type I. Metabolic evaluation and molecular analysis confirmed the correct diagnosis. Despite the fact that many patients are already known in the literature, this is the first report of a Sandifer syndrome-like presenta...
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Full title
First manifestation of citrullinemia type I as Sandifer syndrome
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TN_cdi_doaj_primary_oai_doaj_org_article_1dc2d74869b04896a9fc9cfd35fd2e77
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1dc2d74869b04896a9fc9cfd35fd2e77
Other Identifiers
ISSN
0041-4301
E-ISSN
2791-6421
DOI
10.24953/turkjped.2017.06.013
