JIMD Reports - JIMD Reports, Volume 23
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Published By Springer Berlin Heidelberg

9783662474662, 9783662474679
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Adverse Effects of Genistein in a Mucopolysaccharidosis Type I Mouse Model

2015 ◽  
pp. 77-83 ◽  
Author(s):  
Sandra D. K. Kingma ◽  
Tom Wagemans ◽  
Lodewijk IJlst ◽  
Jurgen Seppen ◽  
Marion J. J. Gijbels ◽  
...  
Keyword(s):  
Adverse Effects ◽  
Mouse Model ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I

scholarly journals Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase Activity

2015 ◽  
pp. 113-122 ◽  
Author(s):  
George G. Schweitzer ◽  
Sara L. Collier ◽  
Zhouji Chen ◽  
James M. Eaton ◽  
Anne M. Connolly ◽  
...  
Keyword(s):  
Phosphatidic Acid

scholarly journals Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency

2015 ◽  
pp. 67-70 ◽  
Author(s):  
Lise Aksglaede ◽  
Mette Christensen ◽  
Jess H. Olesen ◽  
Morten Duno ◽  
Rikke K. J. Olsen ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Healthy Infant ◽  
Medium Chain ◽  
Chain Acyl

scholarly journals Dup-24 bp in the CHIT1 Gene in Six Mexican Amerindian Populations

2015 ◽  
pp. 123-127 ◽  
Author(s):  
T. D. Da Silva-José ◽  
K. J. Juárez-Rendón ◽  
J. A. Juárez-Osuna ◽  
A. Porras-Dorantes ◽  
A. Valladares-Salgado ◽  
...  

scholarly journals Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model

2015 ◽  
pp. 1-6 ◽  
Author(s):  
Ana I. Coelho ◽  
Matilde Trabuco ◽  
Maria João Silva ◽  
Isabel Tavares de Almeida ◽  
Paula Leandro ◽  
...  
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