JIMD Reports - JIMD Reports - Case and Research Reports, 2012/3
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Published By Springer Berlin Heidelberg

9783642281280, 9783642281297
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scholarly journals Cardiac Pathology in Glycogen Storage Disease Type III

2012 ◽  
pp. 65-72 ◽  
Author(s):  
S. L. Austin ◽  
A. D. Proia ◽  
M. J. Spencer-Manzon ◽  
J. Butany ◽  
S. B. Wechsler ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Cardiac Pathology ◽  
Type Iii

scholarly journals Dihydropyrimidinase Deficiency: The First Feline Case of Dihydropyrimidinuria with Clinical and Molecular Findings

2012 ◽  
pp. 21-26 ◽  
Author(s):  
Hye-Sook Chang ◽  
Takako Shibata ◽  
Satoshi Arai ◽  
Chunhua Zhang ◽  
Akira Yabuki ◽  
...  

scholarly journals A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency

2012 ◽  
pp. 7-14 ◽  
Author(s):  
Monique Fontaine ◽  
Anne-Frédérique Dessein ◽  
Claire Douillard ◽  
Dries Dobbelaere ◽  
Michèle Brivet ◽  
...  
Keyword(s):  
Novel Mutation

scholarly journals Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides

2012 ◽  
pp. 73-78 ◽  
Author(s):  
E Martín-Hernández ◽  
P Quijada-Fraile ◽  
L Oliveros-Leal ◽  
MT García-Silva ◽  
C Pérez-Cerdá ◽  
...  
Keyword(s):  
Propionic Acidaemia ◽  
Pharmacological Management
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