Search Results - "Bakkeren, J A"

The Clinical Phenotype of Succinic Semialdehyde Dehydrogenase Deficiency (4-Hydroxybutyric Aciduria): Case Reports of 23 New Patients by Gibson, K. Michael, Christensen, Ernst, Jakobs, Cornelis, Fowler, Brian, Clarke, Michael A, Hammersen, Gerhard, Raab, Klaus, Kobori, Joyce, Moosa, Allie, Vollmer, Brigitte, Rossier, Eva, Iafolla, A. Kimberly, Matern, Dietrich, Brouwer, Oebele F, Finkelstein, Janice, Aksu, Fuat, Weber, Hans-Peter, Bakkeren, Jan A. J. M, Gabreels, Fons J. M, Bluestone, Daniel, Barron, Todd F, Beauvais, Pierre, Rabier, Daniel, Santos, Cesar, Umansky, Richard, Lehnert, Willy

“…To further define the clinical spectrum of the disease for pediatric and metabolic specialists, and to suggest that the general pediatrician and pediatric…”
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Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease by Boers, G H, Smals, A G, Trijbels, F J, Fowler, B, Bakkeren, J A, Schoonderwaldt, H C, Kleijer, W J, Kloppenborg, P W

“…Premature arteriosclerosis and thromboembolic events are well-known complications of homozygous homocystinuria due to cystathionine synthase deficiency. It is…”
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Immunological studies in the hyper-immunoglobulin D syndrome by HARALDSSON, A, WEEMAES, C. M. R, DE BOER, A. W, BAKKEREN, J. A. J. M, STOELINGA, G. B. A

“…Five patients with hyper-immunoglobulin D syndrome (hyper-IgD syndrome) were followed up for 3 to 8 years. In all patients studied, serum IgG3 was high. IgM…”
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A new chromosomal instability disorder: the Nijmegen breakage syndrome by Weemaes, C M, Hustinx, T W, Scheres, J M, van Munster, P J, Bakkeren, J A, Taalman, R D

“…A 10-year-old boy with microcephaly, stunted growth, mental retardation, café-au-lait spots and immunodeficiency is described. An older brother of the patient…”
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Clinical manifestations in selective IgA deficiency in childhood. A follow-up report by De Laat, P C, Weemaes, C M, Gonera, R, Van Munster, P J, Bakkeren, J A, Stoelinga, G B

“…Clinical manifestations in 40 children with selective IgA deficiency were studied during a follow-up period of 2-10 years. The patients were divided into two…”
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Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach by TRIJBELS, J. M. F, SENGERS, R. C. A, RUITENBEEK, W, FISCHER, J. C, BAKKEREN, J. A. J. M, JANSSEN, A. J. M

“…The clinical identification of patients with defects in the mitochondrial respiratory chain is almost impossible. We describe screening tests that should be…”
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Nephelometry of the kappa/lambda light-chain ratio in serum of normal and diseased children by Renckens, A L, Jansen, M J, van Munster, P J, Weemaes, C M, Bakkeren, J A

“…We determined, immunonephelometrically, the ratio between the two types of light chains of immunoglobulins, kappa and lambda, in serum of 94 children, ages 0.4…”
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Altered immunoglobulin concentrations and light chain ratios in juvenile onset mixed connective tissue disease by Haraldsson, A, Tiddens, H A, Fiselier, T, Bakkeren, J A, Weemaes, C M

“…Immunological disturbances may result in altered immunoglobulin concentrations and kappa/lambda light chain (kappa/lambda) ratios. We measured the kappa/lambda…”
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CD4 deficiency in myelodysplastic syndrome with monosomy 7 by WEEMAES, C. M. R, PREIJERS, F, DE VAAN, G. A. M, BAKKEREN, J. A. J. M, KLASEN, I. S, HARALDSSON, A

“…We describe a patient with myelodysplastic syndrome with monosomy 7 presenting with a T-cell defect. He suffered from infections from the age of 10 years, when…”
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Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism by HARALDSSON, A, VAN DER BURGT, C. J. A. M, WEEMAES, C. M. R, OTTEN, B, BAKKEREN, J. A. J. M, STOELINGA, G. B. A

“…A combination of humoral immunodeficiency and isolated growth hormone deficiency was observed in a girl with Mulibrey nanism. The humoral immunodeficiency…”
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The use of chorionic villi in prenatal diagnosis of mitochondriopathies by Ruitenbeek, W., Sengers, R. C. A., Trijbels, J. M. F., Janssen, A. J. M., Bakkeren, J. A. J. M.

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Immunoglobulin levels during follow-up of children with selective IgA deficiency by de Laat, P C, Weemaes, C M, Bakkeren, J A

“…Longitudinal serum immunoglobulin levels were studied in 36 children with selective IgA deficiency during a median follow-up period of 5 years. Twenty-five…”
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Immunoglobulin G, A and M light chain ratio in children by Haraldsson, A, Weemaes, C M, Kock-Jansen, M J, Van Eck-Arts, P B, de Boo, T, Bakkeren, J A, Stoelinga, G B

“…Values for the kappa/lambda light chain ratio in immunoglobulins G, A and M and the total kappa/lambda ratio, measured by enzyme linked immunosorbent assay,…”
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Determination of kappa and lambda light chains in serum immunoglobulins G, A and M by Haraldsson, A, Kock-Jansen, M J, Jaminon, M, van Eck-Arts, P B, de Boo, T, Weemaes, C M, Bakkeren, J A

“…An enzyme-linked immunosorbent assay is described for measuring kappa and lambda light chains within each of the serum immunoglobulin classes G, A and M. The…”
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Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose by Wanders, R. J. A., Wijburg, F. A., Ruiter, J., Trijbels, J. M. F., Ruitenbeek, W., Sengers, R. C. A., Bakkeren, J. A. J. M., Feller, N.

“…Summary Formation of lactate and pyruvate from glucose was studied in cultured amniocytes and chorionic villus fibroblasts from controls, either untreated or…”
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Role of bacteria in the pathogenesis of short bowel syndrome-associated D-lactic acidemia by Bongaerts, G.P..A, Tolboom, J.J.M., Naber, A.H.J., Sperl, W.J.K., Severijnen, R.S.V.M., Bakkeren, J.A.J.M., Willems, J.L.

“…Previously, we have demonstrated that short bowel syndrome (SBS) patients suffer daily from D-lactic acidemia; in these patients rather high amounts of…”
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Light chain ratios and concentrations of immunoglobulins G, A, and M in childhood common acute lymphoblastic leukemia by Haraldsson, A, de Vaan, G A, van Dijk, W J, Bakkeren, J A, Weemaes, C M

“…The light chain ratios and the concentrations of immunoglobulin G (IgG), IgA, and IgM were measured before, during, and after antileukemic therapy in 10…”
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Iatrogenic IgG2 deficiency in a leukaemic child : a case report by DE BOER, A. W, DE VAAN, G. A. M, WEEMAES, C. M. R, BAKKEREN, J. A. J. M

“…A girl with acute non-lymphoblastic leukaemia was treated with immunosuppressive chemotherapy. After cessation of therapy she had three consecutive episodes of…”
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Lactobacillus flora in short bowel syndrome by Bongaerts, G P, Tolboom, J J, Naber, A H, Bakkeren, J A, Severijnen, R S, Willems, J L, Sperl, W J

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Effects of 8-aminoguanosine on the toxicity of guanosine and deoxyguanosine for malignant and normal lymphoid cells by van der Kraan, P M, van Zandvoort, P M, De Abreu, R A, Bakkeren, J A

“…The toxicity of guanosine and deoxyguanosine in the presence or absence of the purine nucleoside phosphorylase inhibitor, 8-aminoguanosine, for malignant…”
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