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                             7 results found
no title author magazine year volume issue page(s) type
1 Disorders of branched chain amino acid metabolism Manoli, I.
2016
2 p. 91-110
article
2 Disorders of sterol biosynthesis Furtado, Larissa V.
2016
2 p. 145-182
article
3 MZ carrier state in alpha-1 antitrypsin deficiency: Summary of the 16th Gordon L. Snider critical issues workshop, Bethesda, Maryland, November 13, 2017 Brantly, Mark
2018
2 p. 105-120
article
4 Neuronal ceroid-lipofuscinoses Rakheja, Dinesh
2018
2 p. 83-95
article
5 Novel SLC16A2 mutations in Chinese patients with Allan-Herndon-Dudley Syndrome Wang, Jiaping
2018
2 p. 97-103
article
6 Peroxisome biogenesis disorders Argyriou, Catherine
2016
2 p. 111-144
article
7 Translational research advances a new era of prenatal diagnosis and newborn screening Shulman, Lee P.
2018
2 p. 55-82
article
                             7 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands