Search Results - Spaapen, Leo J. M.

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  1. 1
    Fatal cerebral edema associated with serine deficiency in CSF

    Fatal cerebral edema associated with serine deficiency in CSF by Keularts, Irene M. L. W., Leroy, Piet L. J. M., Rubio-Gozalbo, Estela M., Spaapen, Leo J. M., Weber, Biene, Dorland, Bert, de Koning, Tom J., Verhoeven-Duif, Nanda M.

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  2. 2
    Untreated classical galactosemia patient with mild phenotype

    Untreated classical galactosemia patient with mild phenotype by Panis, Bianca, Bakker, Jaap A., Sels, Jean-Pierre J.E., Spaapen, Leo J.M., van Loon, Luc J.C., Rubio-Gozalbo, M. Estela

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  3. 3
    Unexplained familial benign methylmalonic aciduria

    Unexplained familial benign methylmalonic aciduria by MARTENS, Daniëlle H. J, BAKKER, Jaap A, VAN DER MEER, Syb B, SPAAPEN, Leo J. M

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  4. 4
    Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art

    Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art by Spaapen, Leo J.M, Estela Rubio-Gozalbo, M

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  5. 5
    RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families

    RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families by Meijer, H, Jongbloed, R J, Hekking, M, Spaapen, L J, Geraedts, J P

    Published in Human genetics
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  6. 6
    Unexplained familial benign methylmalonic aciduria

    Unexplained familial benign methylmalonic aciduria by Martens, Daniëlle H J, Bakker, Jaap A, van der Meer, Syb B, Spaapen, Leo J M

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  7. 7
    Clinical and biochemical presentation of siblings with COG‐7 deficiency, a lethal multiple O‐ and N‐glycosylation disorder

    Clinical and biochemical presentation of siblings with COG‐7 deficiency, a lethal multiple O‐ and N‐glycosylation disorder by Spaapen, L. J. M., Bakker, J. A., der Meer, S. B., Sijstermans, H. J., Steet, R. A., Wevers, R. A., Jaeken, J.

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  8. 8
    Effect of calcium, vitamins K1 and D3 on bone in galactosemia

    Effect of calcium, vitamins K1 and D3 on bone in galactosemia by Panis, Bianca, Vermeer, Cees, van Kroonenburgh, Marinus J.P.G., Nieman, Fred H.M., Menheere, Paul P.C.A., Spaapen, Leo J., Rubio-Gozalbo, M. Estela

    Published in Bone (New York, N.Y.)
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  9. 9
    Effect of calcium, vitamins K 1 and D 3 on bone in galactosemia

    Effect of calcium, vitamins K 1 and D 3 on bone in galactosemia by Panis, Bianca, Vermeer, Cees, van Kroonenburgh, Marinus J.P.G., Nieman, Fred H.M., Menheere, Paul P.C.A., Spaapen, Leo J., Rubio-Gozalbo, M. Estela

    Published in Bone (New York, N.Y.)
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  10. 10
    Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?

    Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems? by Moog, Ute, van Mierlo, Ingrid, van Schrojenstein Lantman-de Valk, Henny M.J., Spaapen, Leo, Maaskant, Marian A., Curfs, Leopold M.G.

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  11. 11
    The endocrine system in treated patients with classical galactosemia

    The endocrine system in treated patients with classical galactosemia by Rubio-Gozalbo, M. Estela, Panis, Bianca, Zimmermann, Luc J.I., Spaapen, Leo J., Menheere, P.P.C.A.

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  12. 12
    Is sanfilippo type b in your mind when you see adults with mental retardation and behavioral problems?: Adult dysmorphology

    Is sanfilippo type b in your mind when you see adults with mental retardation and behavioral problems?: Adult dysmorphology by MOOG, Ute, VAN MIERLO, Ingrid, VAN SCHROJENSTEIN LANTMAN-DE VALK, Henny M. J, SPAAPEN, Leo, MAASKANT, Marian A, CURFS, Leopold M. G

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