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                             10 results found
no title author magazine year volume issue page(s) type
1 A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia Van Calcar, Sandra C.
2014
112 3 p. 191-197
7 p.
article
2 Editorial Board 2014
112 3 p. IFC-
1 p.
article
3 Improved standards for prenatal diagnosis of citrullinemia Miller, Marcus J.
2014
112 3 p. 205-209
5 p.
article
4 Improvement of cardiac function by short-term enzyme replacement therapy in a murine model of cardiomyopathy associated with Hunter syndrome evaluated by serial echocardiography with speckle tracking 2-D strain analysis Lee, Sang-Chol
2014
112 3 p. 218-223
6 p.
article
5 Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene Li, H.
2014
112 3 p. 242-246
5 p.
article
6 Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach Frazier, Dianne M.
2014
112 3 p. 210-217
8 p.
article
7 Reversal of advanced disease in lysosomal acid lipase deficient mice: A model for lysosomal acid lipase deficiency disease Sun, Ying
2014
112 3 p. 229-241
13 p.
article
8 Systemic accumulation of undigested lysosomal metabolites in an autopsy case of mucolipidosis type II; autophagic dysfunction in cardiomyocyte Sato, Yohei
2014
112 3 p. 224-228
5 p.
article
9 Table of Contents 2014
112 3 p. iii-
1 p.
article
10 The Mmachc gene is required for pre-implantation embryogenesis in the mouse Moreno-Garcia, Maira A.
2014
112 3 p. 198-204
7 p.
article
                             10 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands