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 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 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 Platelet Hexosaminidase A Enzyme Assay Effectively Detects Carriers Missed by Targeted DNA Mutation Analysis

2012 ◽  
pp. 1-6 ◽  
Author(s):  
Sachiko Nakagawa ◽  
Jie Zhan ◽  
Wei Sun ◽  
Jose Carlos Ferreira ◽  
Steven Keiles ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Enzyme Assay ◽  
Dna Mutation ◽  
Hexosaminidase A ◽  
Dna Mutation Analysis

scholarly journals Newborn Screening for Inborn Errors of Metabolism in Mainland China: 30 Years of Experience

2012 ◽  
pp. 79-83 ◽  
Author(s):  
Xiao-Tong Shi ◽  
Juan Cai ◽  
Yuan-Yu Wang ◽  
Wen-Jun Tu ◽  
Wei-Peng Wang ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Inborn Errors Of Metabolism ◽  
Mainland China ◽  
Years Of Experience ◽  
Inborn Errors

scholarly journals Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients

2012 ◽  
pp. 55-64 ◽  
Author(s):  
Mei-Ying Liu ◽  
Tze-Tze Liu ◽  
Yang-Ling Yang ◽  
Ying-Chen Chang ◽  
Ya-Ling Fan ◽  
...  
Keyword(s):  
Methylmalonic Aciduria ◽  
Mutation Profile ◽  
Mut Gene

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
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