JIMD Reports - JIMD Reports - Case and Research Reports, Volume 13
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Published By Springer Berlin Heidelberg

9783642541483, 9783642541490
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Methods of Neurodevelopmental Assessment in Children with Neurodegenerative Disease: Sanfilippo Syndrome

2013 ◽  
pp. 129-137 ◽  
Author(s):  
Kathleen A. Delaney ◽  
Kyle R. Rudser ◽  
Brianna D. Yund ◽  
Chester B. Whitley ◽  
Patrick A. J. Haslett ◽  
...  
Keyword(s):  
Neurodegenerative Disease ◽  
Sanfilippo Syndrome

scholarly journals Application of a Second-Tier Newborn Screening Assay for C5 Isoforms

2013 ◽  
pp. 23-26 ◽  
Author(s):  
T Cloppenborg ◽  
N Janzen ◽  
HJ Wagner ◽  
U Steuerwald ◽  
M Peter ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Assay ◽  
Second Tier

scholarly journals Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome

2013 ◽  
pp. 53-57 ◽  
Author(s):  
Felix Distelmaier ◽  
Peter Huppke ◽  
Peter Pieperhoff ◽  
Katrin Amunts ◽  
Jörg Schaper ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Basal Ganglia ◽  
Leigh Syndrome ◽  
Basal Ganglia Disease

scholarly journals Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation

2013 ◽  
pp. 37-41 ◽  
Author(s):  
Bryce A. Mendelsohn ◽  
Neil Mehta ◽  
Bilal Hameed ◽  
Melike Pekmezci ◽  
Seymour Packman ◽  
...  
Keyword(s):  
Adult Onset

scholarly journals Distribution and Severity of Neuropathology in β-Mannosidase-Deficient Mice is Strain Dependent

2013 ◽  
pp. 73-81 ◽  
Author(s):  
Kathryn L. Lovell ◽  
Mei Zhu ◽  
Meghan C. Drummond ◽  
Robert C. Switzer ◽  
Karen H. Friderici
Keyword(s):  
Strain Dependent ◽  
Deficient Mice ◽  
Is Strain

scholarly journals Vestibular and Saccadic Abnormalities in Gaucher’s Disease

2013 ◽  
pp. 111-118 ◽  
Author(s):  
Luke Chen ◽  
G. Michael Halmagyi ◽  
Michael J. Todd ◽  
Swee T. Aw
Keyword(s):  
Gaucher's Disease ◽  
Gaucher’S Disease
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