JIMD Reports - JIMD Reports, Volume 31
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16
(FIVE YEARS 0)

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6
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Published By Springer Berlin Heidelberg

9783662541180, 9783662541197
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency

2016 ◽  
pp. 113-113
Author(s):  
Irina Anselm ◽  
Morgan MacCuaig ◽  
Sanjay P. Prabhu ◽  
Gerard T. Berry
Keyword(s):  
Disease Heterogeneity

scholarly journals Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes

2016 ◽  
pp. 57-62 ◽  
Author(s):  
Natascia Anastasio ◽  
Maja Tarailo-Graovac ◽  
Reem Al-Khalifah ◽  
Laurent Legault ◽  
Britt Drogemoller ◽  
...  
Keyword(s):  
Neonatal Diabetes ◽  
Complex Iii ◽  
Mitochondrial Complex

scholarly journals Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

2016 ◽  
pp. 1-9 ◽  
Author(s):  
Nina A. Zeltner ◽  
Markus A. Landolt ◽  
Matthias R. Baumgartner ◽  
Sarah Lageder ◽  
Julia Quitmann ◽  
...  
Keyword(s):  
Qualitative Analysis ◽  
Inborn Errors Of Metabolism ◽  
Inborn Errors ◽  
Paediatric Patients

scholarly journals Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency

2016 ◽  
pp. 107-111 ◽  
Author(s):  
Irina Anselm ◽  
Morgan MacCuaig ◽  
Sanjay B. Prabhu ◽  
Gerard T. Berry
Keyword(s):  
Disease Heterogeneity

scholarly journals Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency

2016 ◽  
pp. 95-99 ◽  
Author(s):  
Anne-Els van de Logt ◽  
Leo A. J. Kluijtmans ◽  
Marleen C. D. G. Huigen ◽  
Mirian C. H. Janssen
Keyword(s):  
Adult Onset ◽  
Acetylglutamate Synthase
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