Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum

Transaldolase (TALDO) deficiency has various clinical manifestations including liver dysfunction, hepatosplenomegaly, anemia, thrombocytopenia, and dysmorphic features. We report a case presenting prenatally with hyperechogenic bowel and intrauterine growth restriction. The infant was born small for...

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Publicat a:JIMD Rep
Autors principals: Banne, Ehud, Meiner, Vardiella, Shaag, Avraham, Katz-Brull, Rachel, Gamliel, Ayelet, Korman, Stanley, Cederboim, Smadar Horowitz, Duvdevani, Morasha Plesser, Frumkin, Ayala, Zilkha, Amir, Kapuller, Vadim, Arbell, Dan, Cohen, Elite, Eventov-Friedman, Smadar
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2015
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4864716/
https://ncbi.nlm.nih.gov/pubmed/26238251
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_474
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