Functions realizing as abelian group automorphisms
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Published in Communications in algebra (01.02.2018)
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Mutations in PCBD1 Cause Hypomagnesemia and Renal Magnesium Wasting
FERRE, Silvia, DE BAAIJ, Jeroen H. F, BINDELS, René J. M, FERREIRA, Patrick, GERMANN, Roger, DE KLERK, Johannis B. C, LAVRIJSEN, Marla, VAN ZEELAND, Femke, VENSELAAR, Hanka, KLUIJTMANS, Leo A. J, HOENDEROP, Joost G. J
Published in Journal of the American Society of Nephrology (01.03.2014)
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Development of radiological knee osteoarthritis in patients with knee complaints
de Klerk, B M, Willemsen, S, Schiphof, D, van Meurs, J B J, Koes, B W, Hofman, A, Bierma-Zeinstra, S M A
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Published in Annals of the rheumatic diseases (01.06.2012)
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Limited evidence for a protective effect of unopposed oestrogen therapy for osteoarthritis of the hip: a systematic review
de Klerk, B. M., Schiphof, D., Groeneveld, F. P. M. J., Koes, B. W., van Osch, G. J. V. M., van Meurs, J. B. J., Bierma-Zeinstra, S. M. A.
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Published in Rheumatology (Oxford, England) (01.02.2009)
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L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship
de Klerk, J B, Huijmans, J G, Stroink, H, Robben, S G, Jakobs, C, Duran, M
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Published in Neuropediatrics (01.12.1997)
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Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect
van de Kamp, Jiddeke M., Pouwels, Petra J. W., Aarsen, Femke K., ten Hoopen, Leontine W., Knol, Dirk L., de Klerk, Johannes B., de Coo, Ireneus F., Huijmans, Jan G. M., Jakobs, Cornelis, van der Knaap, Marjo S., Salomons, Gajja S., Mancini, Grazia M. S.
Published in Journal of inherited metabolic disease (01.01.2012)
Published in Journal of inherited metabolic disease (01.01.2012)
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AMNIOTIC FLUID ODD-CHAIN FATTY ACIDS ARE INCREASED IN PROPIONIC ACIDAEMIA
ÇOKER, M., DURAN, M., DE KLERK, J. B. C., KLEIJER, W. J., JAKOBS, C., HUIJMANS, J. G. M.
Published in Prenatal diagnosis (01.10.1996)
Published in Prenatal diagnosis (01.10.1996)
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Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia
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Published in Annals of neurology (2003)
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Enzyme therapy for Pompe disease with recombinant human α‐glucosidase from rabbit milk
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Published in Journal of inherited metabolic disease (01.04.2001)
Published in Journal of inherited metabolic disease (01.04.2001)
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Published in American journal of medical genetics. Part A (01.05.2004)
Published in American journal of medical genetics. Part A (01.05.2004)
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The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria
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Published in Journal of inherited metabolic disease (01.12.2005)
Published in Journal of inherited metabolic disease (01.12.2005)
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A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis
de Klerk, J B, Duran, M, Dorland, L, Brouwers, H A, Bruinvis, L, Ketting, D
Published in Journal of inherited metabolic disease (01.01.1988)
Published in Journal of inherited metabolic disease (01.01.1988)
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Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters: Neurological manifestations of IEM in children, dedicated to Robert Surtees
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Published in Journal of inherited metabolic disease (2009)
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Published in Journal of inherited metabolic disease (2009)
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Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
IMBACH, T, GRÜNEWALD, S, AEBI, M, HENNET, T, SCHENK, B, BURDA, P, SCHOLLEN, E, WEVERS, R. A, JAEKEN, J, DE KLERK, J. B. C, BERGER, E. G, MATTHIJS, G
Published in Human genetics (01.05.2000)
Published in Human genetics (01.05.2000)
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Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival
Barth, P G, Majoie, C B L M, Gootjes, J, Wanders, R J A, Waterham, H R, van der Knaap, M S, de Klerk, J B C, Smeitink, J, Poll-The, B T
Published in Neurology (10.02.2004)
Published in Neurology (10.02.2004)
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Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis
Grünewald, S., Imbach, T., Huijben, K., Rubio-Gozalbo, M. E., Verrips, A., De Klerk, J. B. C., Stroink, H., De Rijk-Van Andel, J. F., Van Hove, J. L. K., Wendel, U., Matthijs, G., Hennet, T., Jaeken, J., Wevers, R. A.
Published in Annals of neurology (01.06.2000)
Published in Annals of neurology (01.06.2000)
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Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency
Hoffmann, G F, Athanassopoulos, S, Burlina, A B, Duran, M, de Klerk, J B, Lehnert, W, Leonard, J V, Monavari, A A, Müller, E, Muntau, A C, Naughten, E R, Plecko-Starting, B, Superti-Furga, A, Zschocke, J, Christensen, E
Published in Neuropediatrics (01.06.1996)
Published in Neuropediatrics (01.06.1996)
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