Inborn Metabolic Diseases
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Published By Springer Berlin Heidelberg

9783662497692, 9783662497715
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

Disorders of Oxidative Phosphorylation

2016 ◽  
pp. 223-242 ◽  
Author(s):  
Shamima Rahman ◽  
Johannes A. Mayr
Keyword(s):  
Oxidative Phosphorylation

Disorders of Cobalamin and Folate Transport and Metabolism

2016 ◽  
pp. 385-399
Author(s):  
David Watkins ◽  
David S. Rosenblatt ◽  
Brian Fowler
Keyword(s):  
Folate Transport

Disorders of the Urea Cycle and Related Enzymes

2016 ◽  
pp. 295-308 ◽  
Author(s):  
Johannes Häberle ◽  
Vicente Rubio
Keyword(s):  
Urea Cycle

Disorders of Fructose Metabolism

2016 ◽  
pp. 161-168 ◽  
Author(s):  
Beat Steinmann ◽  
René Santer
Keyword(s):  
Fructose Metabolism

Emergency Treatments

2016 ◽  
pp. 109-117
Author(s):  
Manuel Schiff ◽  
Fanny Mochel ◽  
Carlo Dionisi-Vici

Disorders of Haem Biosynthesis

2016 ◽  
pp. 515-527
Author(s):  
Charles Marquez Lourenço ◽  
Karl E. Anderson
Keyword(s):  
Haem Biosynthesis

Disorders of Intracellular Triglyceride and Phospholipid Metabolism

2016 ◽  
pp. 477-491 ◽  
Author(s):  
Foudil Lamari ◽  
Jean-Marie Saudubray ◽  
Grant A. Mitchell
Keyword(s):  
Phospholipid Metabolism ◽  
Intracellular Triglyceride

Trimethylaminuria, Dimethylglycine Dehydrogenase Deficiency and Disorders in the Metabolism of Glutathione

2016 ◽  
pp. 429-437
Author(s):  
John Walter ◽  
Ron A. Wevers ◽  
Ertan Mayatepek
Keyword(s):  
Dehydrogenase Deficiency

Diagnostic Procedures

2016 ◽  
pp. 91-107
Author(s):  
Guy Touati ◽  
Fanny Mochel ◽  
Daniel Rabier
Keyword(s):  
Diagnostic Procedures

Disorders of Neurotransmission

2016 ◽  
pp. 415-427
Author(s):  
Angels Garcia-Cazorla ◽  
Rafael Artuch ◽  
K. Michael Gibson
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