JIMD Reports - JIMD Reports, Volume 38
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Published By Springer Berlin Heidelberg

9783662566091, 9783662566107
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals First Successful Conception Induced by a Male Cystinosis Patient

2017 ◽  
pp. 1-6 ◽  
Author(s):  
Koenraad R. Veys ◽  
Kathleen W. D’Hauwers ◽  
Angelique J. C. M. van Dongen ◽  
Mirian C. Janssen ◽  
Martine T. P. Besouw ◽  
...  
Keyword(s):  
Cystinosis Patient

scholarly journals Mutations in GMPPB Presenting with Pseudometabolic Myopathy

2017 ◽  
pp. 23-31 ◽  
Author(s):  
Chiara Panicucci ◽  
Chiara Fiorillo ◽  
Francesca Moro ◽  
Guja Astrea ◽  
Giacomo Brisca ◽  
...  

scholarly journals Effect of Lorenzo’s Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in abcd1-Deficient Mice

2017 ◽  
pp. 67-74 ◽  
Author(s):  
Masashi Morita ◽  
Ayako Honda ◽  
Akira Kobayashi ◽  
Yuichi Watanabe ◽  
Shiro Watanabe ◽  
...  
Keyword(s):  
Gene Expression ◽  
Fatty Acid ◽  
Acid Level ◽  
Hepatic Gene Expression ◽  
Fatty Acid Level ◽  
Serum Fatty Acid ◽  
Lorenzo’S Oil ◽  
Deficient Mice

scholarly journals Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency

2017 ◽  
pp. 53-59 ◽  
Author(s):  
F. Habarou ◽  
N. Bahi-Buisson ◽  
E. Lebigot ◽  
C. Pontoizeau ◽  
M. T. Abi-Warde ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Ketone Bodies ◽  
Glut1 Deficiency

scholarly journals Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency

2017 ◽  
pp. 101-105 ◽  
Author(s):  
Peter van Vliet ◽  
Annelies E. Berden ◽  
Mojca K. M. van Schie ◽  
Jaap A. Bakker ◽  
Christian Heringhaus ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Protein Deficiency ◽  
Mitochondrial Trifunctional Protein
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