JIMD Reports - JIMD Reports - Case and Research Reports, 2011/3
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Published By Springer Berlin Heidelberg

9783642249358, 9783642249365
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scholarly journals COG5-CDG with a Mild Neurohepatic Presentation

2011 ◽  
pp. 67-70 ◽  
Author(s):  
C. W. Fung ◽  
G. Matthijs ◽  
L. Sturiale ◽  
D. Garozzo ◽  
K. Y. Wong ◽  
...  

scholarly journals Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1

2011 ◽  
pp. 107-115 ◽  
Author(s):  
Toshiyuki Fukao ◽  
Shinsuke Maruyama ◽  
Toshihiro Ohura ◽  
Yuki Hasegawa ◽  
Mitsuo Toyoshima ◽  
...  
Keyword(s):  
Japanese Patients

scholarly journals Altered Carbon Dioxide Metabolism and Creatine Abnormalities in Rett Syndrome

2011 ◽  
pp. 117-124 ◽  
Author(s):  
Nicky S. J. Halbach ◽  
Eric E. J. Smeets ◽  
Jörgen Bierau ◽  
Irene M. L. W. Keularts ◽  
Guy Plasqui ◽  
...  
Keyword(s):  
Carbon Dioxide ◽  
Rett Syndrome

scholarly journals Large Mitochondrial DNA Deletion in an Infant with Addison Disease

2011 ◽  
pp. 5-9 ◽  
Author(s):  
Gloria P. Duran ◽  
A. Martinez-Aguayo ◽  
H. Poggi ◽  
M. Lagos ◽  
D. Gutierrez ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Dna Deletion ◽  
Dna Deletion ◽  
Addison Disease

scholarly journals A Twelve-Year Follow-Up Study on a Case of Early-Onset Parkinsonism Preceding Clinical Manifestation of Gaucher Disease

2011 ◽  
pp. 53-57 ◽  
Author(s):  
Maciej Machaczka ◽  
Martin Paucar Arce ◽  
Malgorzata Rucinska ◽  
Takashi Yoshitake ◽  
Jan Kehr ◽  
...  
Keyword(s):  
Clinical Manifestation ◽  
Early Onset ◽  
Gaucher Disease ◽  
Follow Up Study
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