Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother
Kleijer, W J, Hu, P, Thoomes, R, Boer, M, Huijmans, J G, Blom, W, Van Diggelen, O P, Seemanova, E, Macek, M
Published in Journal of inherited metabolic disease (01.01.1990)
Published in Journal of inherited metabolic disease (01.01.1990)
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Prenatal diagnosis of Morquio disease type A using a simple fluorometric enzyme assay
Zhao, H, Van Diggelen, O P, Thoomes, R, Huijmans, J, Young, E, Mazurczak, T, Kleijer, W J
Published in Prenatal diagnosis (01.02.1990)
Published in Prenatal diagnosis (01.02.1990)
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First-trimester (chorion biopsy) diagnosis of citrullinaemia and methylmalonicaciduria
Kleijer, W J, Thoomes, R, Galjaard, H, Wendel, U, Fowler, B
Published in The Lancet (British edition) (08.12.1984)
Published in The Lancet (British edition) (08.12.1984)
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