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Severe neonatal spondylometaphyseal dysplasia in two siblings

✍ Scribed by Malwina Czarny-Ratajczak; Krystyna Chrzanowska; Tadeusz Bieganski; Jerzy Sulko; Dobromila Baranska; Beata Kocyla-Karczmarewicz; Lukasz Kuszel; Lucjusz Jakubowski; Kryspin Niedzielski; Kazimierz Kozlowski


Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
196 KB
Volume
149A
Category
Article
ISSN
1552-4825

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This paper describes the molecular characterization of two male siblings displaying the complex (Type B) form of pyruvate carboxylase (PC) deficiency in which severe neonatal lactic acidosis and redox abnormalities results in death within the first few weeks of life. The two male siblings were found