JIMD Reports - JIMD Reports, Volume 22
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Published By Springer Berlin Heidelberg

9783662474525, 9783662474532
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature

2015 ◽  
pp. 115-120 ◽  
Author(s):  
Anna Ardissone ◽  
Tiziana Granata ◽  
Andrea Legati ◽  
Daria Diodato ◽  
Laura Melchionda ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Complex Iii ◽  
Review Of Literature ◽  
Mitochondrial Complex

scholarly journals Monitoring of Therapy for Mucopolysaccharidosis Type I Using Dysmorphometric Facial Phenotypic Signatures

2015 ◽  
pp. 99-106 ◽  
Author(s):  
Stefanie Kung ◽  
Mark Walters ◽  
Peter Claes ◽  
Peter LeSouef ◽  
Jack Goldblatt ◽  
...  
Keyword(s):  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I

scholarly journals Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium

2015 ◽  
pp. 29-38 ◽  
Author(s):  
Stefan Kölker ◽  
◽  
Dries Dobbelaere ◽  
Johannes Häberle ◽  
Peter Burgard ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Organic Acidurias ◽  
Cycle Disorders

scholarly journals Normal Cerebrospinal Fluid Pyridoxal 5′-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy

2015 ◽  
pp. 67-75 ◽  
Author(s):  
Alina Levtova ◽  
Stephane Camuzeaux ◽  
Anne-Marie Laberge ◽  
Pierre Allard ◽  
Catherine Brunel-Guitton ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Epileptic Encephalopathy ◽  
Phosphate Level ◽  
Neonatal Onset ◽  
Deficient Patient

scholarly journals Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia

2015 ◽  
pp. 85-94 ◽  
Author(s):  
Masa-aki Kawashiri ◽  
Hayato Tada ◽  
Marowa Hashimoto ◽  
Matsuo Taniyama ◽  
Takamitsu Nakano ◽  
...  
Keyword(s):  
Familial Hypobetalipoproteinemia

scholarly journals Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism

2015 ◽  
pp. 11-16 ◽  
Author(s):  
Majid Alfadhel ◽  
Muhammad Talal Alrifai ◽  
Daniel Trujillano ◽  
Hesham Alshaalan ◽  
Ali Al Othaim ◽  
...  
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Asparagine Synthetase ◽  
Inborn Errors ◽  
Synthetase Deficiency ◽  
Asparagine Synthetase Deficiency
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