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                             18 results found
no title author magazine year volume issue page(s) type
1 Abstract Index 2016
117 3 p. 389-391
3 p.
article
2 Abstracts 2016
117 3 p. 221-298
78 p.
article
3 Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism Pupavac, Mihaela
2016
117 3 p. 363-368
6 p.
article
4 Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation Shen, Nan
2016
117 3 p. 328-335
8 p.
article
5 Copy number variation (CNV) analysis and mutation analysis of the 6q14.1–6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients Geets, Ellen
2016
117 3 p. 383-388
6 p.
article
6 Editorial Board 2016
117 3 p. IFC-
1 p.
article
7 Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10year combined experience of 2 centres Ghosh, Arunabha
2016
117 3 p. 373-377
5 p.
article
8 Exhibitors of the 2016 SIMD Annual Meeting 2016
117 3 p. 299-
1 p.
article
9 Forty-eight novel mutations causing biotinidase deficiency Procter, Melinda
2016
117 3 p. 369-372
4 p.
article
10 Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options Gerards, Mike
2016
117 3 p. 300-312
13 p.
article
11 Living related versus deceased donor liver transplantation for maple syrup urine disease Feier, Flavia
2016
117 3 p. 336-343
8 p.
article
12 Low bone mineral density is a common finding in patients with homocystinuria Weber, David R.
2016
117 3 p. 351-354
4 p.
article
13 Metabolic Diet App Suite for inborn errors of amino acid metabolism Ho, Gloria
2016
117 3 p. 322-327
6 p.
article
14 Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia Sørensen, Jannie Tanderup
2016
117 3 p. 344-350
7 p.
article
15 Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines Braverman, Nancy E.
2016
117 3 p. 313-321
9 p.
article
16 Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes Chapman, Kimberly A.
2016
117 3 p. 355-362
8 p.
article
17 Restoration of the serum level of SERPINF1 does not correct the bone phenotype in Serpinf1 null mice Rajagopal, Abbhirami
2016
117 3 p. 378-382
5 p.
article
18 Table of Contents 2016
117 3 p. iii-iv
nvt p.
article
                             18 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands