JIMD Reports - JIMD Reports, Volume 27
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15
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6
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Published By Springer Berlin Heidelberg

9783662504086, 9783662504093
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia

2015 ◽  
pp. 47-53 ◽  
Author(s):  
Henning Stockmann ◽  
Karen P. Coss ◽  
M. Estela Rubio-Gozalbo ◽  
Ina Knerr ◽  
Maria Fitzgibbon ◽  
...  
Keyword(s):  
Classical Galactosaemia

scholarly journals SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)

2015 ◽  
pp. 27-32 ◽  
Author(s):  
Roeltje R. Maas ◽  
Adela Della Marina ◽  
Arjan P. M. de Brouwer ◽  
Ron A. Wevers ◽  
Richard J Rodenburg ◽  
...  
Keyword(s):  
Review Of The Literature

scholarly journals Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders

2015 ◽  
pp. 17-26 ◽  
Author(s):  
Paula Fernandez-Guerra ◽  
M. Lund ◽  
T. J. Corydon ◽  
N. Cornelius ◽  
N. Gregersen ◽  
...  
Keyword(s):  
Image Cytometry ◽  
Inherited Disorders

scholarly journals Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles

2015 ◽  
pp. 39-45 ◽  
Author(s):  
Clément Pontoizeau ◽  
Florence Habarou ◽  
Anaïs Brassier ◽  
Alice Veauville-Merllié ◽  
Coraline Grisel ◽  
...  
Keyword(s):  
Glutaric Aciduria

scholarly journals Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice

2015 ◽  
pp. 69-77 ◽  
Author(s):  
Priscila Nicolao Mazzola ◽  
Vibeke Bruinenberg ◽  
Karen Anjema ◽  
Danique van Vliet ◽  
Carlos Severo Dutra-Filho ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Voluntary Exercise ◽  
The Brain

scholarly journals Further Delineation of the ALG9-CDG Phenotype

2015 ◽  
pp. 107-112 ◽  
Author(s):  
Sarah AlSubhi ◽  
Amal AlHashem ◽  
Anas AlAzami ◽  
Kalthoum Tlili ◽  
Saad AlShahwan ◽  
...  

scholarly journals Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

2015 ◽  
pp. 11-15 ◽  
Author(s):  
P. Bala ◽  
S. Ferdinandusse ◽  
S. E. Olpin ◽  
P. Chetcuti ◽  
A. A. M. Morris
Keyword(s):  
Ventricular Tachycardia ◽  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Medium Chain ◽  
Chain Acyl ◽  
Acyl Coenzyme A
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