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                             11 results found
no title author magazine year volume issue page(s) type
1 Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes Strauss, Kevin A.

129 3 p. 193-206
article
2 Carnitine uptake defect due to a 5′UTR mutation in a pedigree with false positives and false negatives on Newborn screening Verbeeten, Kate C.

129 3 p. 213-218
article
3 Cover 2 / Ed. Board
129 3 p. IFC
article
4 Does the 48-hour BH4 loading test miss responsive PKU patients? van Wegberg, Annemiek M.J.

129 3 p. 186-192
article
5 Evaluation of neurocognitive function of prefrontal cortex in ornithine transcarbamylase deficiency Anderson, Afrouz

129 3 p. 207-212
article
6 Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement Friederich, Marisa W.

129 3 p. 236-242
article
7 Table of Contents
129 3 p. iii
article
8 The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes Welsink-Karssies, Mendy M.

129 3 p. 171-176
article
9 The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII Wang, Raymond Y.

129 3 p. 219-227
article
10 The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis Lang, Frederick M.

129 3 p. 228-235
article
11 5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics Levy, Harvey

129 3 p. 177-185
article
                             11 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands