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10 gevonden resultaten

nr	titel	auteur	tijdschrift	jaar	jaarg.	afl.	pagina('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.	artikel
2	Editorial Board			2014	112	3	p. IFC- 1 p.	artikel
3	Improved standards for prenatal diagnosis of citrullinemia	Miller, Marcus J.		2014	112	3	p. 205-209 5 p.	artikel
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.	artikel
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.	artikel
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.	artikel
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.	artikel
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.	artikel
9	Table of Contents			2014	112	3	p. iii- 1 p.	artikel
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.	artikel

10 gevonden resultaten

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