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                             10 results found
no title author magazine year volume issue page(s) type
1 Acute Intermittent Porphyria in children: A case report and review of the literature Balwani, Manisha
 2016
 119 4 p. 295-299
5 p.
 article
2 An MRspec database query and visualization engine with applications as a clinical diagnostic and research tool Miscevic, Filip
 2016
 119 4 p. 300-306
7 p.
 article
3 A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue Dercksen, Marli
 2016
 119 4 p. 307-310
4 p.
 article
4 Autism in patients with propionic acidemia Witters, Peter
 2016
 119 4 p. 317-321
5 p.
 article
5 Editorial Board 2016
 119 4 p. IFC-
1 p.
 article
6 MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease Amico, Giulia
 2016
 119 4 p. 329-337
9 p.
 article
7 Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey Isiyel, Emel
 2016
 119 4 p. 311-316
6 p.
 article
8 Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation Tajima, Go
 2016
 119 4 p. 322-328
7 p.
 article
9 Table of Contents 2016
 119 4 p. iii-
1 p.
 article
10 Two translation initiation codons direct the expression of annexin VI 64kDa and 68kDa isoforms González-Noriega, Alfonso
 2016
 119 4 p. 338-343
6 p.
 article
                             10 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands