Search Results - "LEFEBER, D. J"

Examining the Distribution and Impact of Single-Nucleotide Polymorphisms in the Capsular Locus of Streptococcus pneumoniae Serotype 19A by Arends, D W, Miellet, W R, Langereis, J D, Ederveen, T H A, van der Gaast-de Jongh, C E, van Scherpenzeel, M, Knol, M J, van Sorge, N M, Lefeber, D J, Trzciński, K, Sanders, E A M, Dorfmueller, H C, Bootsma, H J, de Jonge, M I

“…Streptococcus pneumoniae serotype 19A prevalence has increased after the implementation of the PCV7 and PCV10 vaccines. In this study, we have provided, with…”
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Oral ribose supplementation in dystroglycanopathy: A single case study by Thewissen, R. M. J., Post, M. A., Maas, D. M., Veizaj, R., Wagenaar, I., Alsady, M., Kools, J., Bouman, K., Zweers, H., Meregalli, P. G., Kooi, A. J., Doorn, P. A., Groothuis, J. T., Lefeber, D. J., Voermans, N. C.

“…Three forms of muscular dystrophy‐dystroglycanopathies are linked to the ribitol pathway. These include mutations in the isoprenoid synthase domain‐containing…”
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Ophthalmological abnormalities in children with congenital disorders of glycosylation type I by Morava, E, Wosik, H N, Sykut-Cegielska, J, Adamowicz, M, Guillard, M, Wevers, R A, Lefeber, D J, Cruysberg, J R M

“…Children with congenital disorders of glycosylation (CDG) type Ia frequently present with ocular involvement and visual loss. Little is known, however, about…”
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Adult metachromatic leukodystrophy treated by allo-SCT and a review of the literature by de Hosson, L D, van de Warrenburg, B P C, Preijers, F W M B, Blijlevens, N M A, van der Reijden, B A, Kremer, H P H, Lefeber, D J, Allebes, W A, Al-Ali, H, Niederwieser, D W, Schaap, N P M, Schattenberg, A V M B

“…Five patients with adult-onset metachromatic leukodystrophy (MLD) underwent allo-SCT. Conditioning was reduced in intensity and grafts were obtained from…”
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Substrate deprivation therapy in juvenile Sandhoff disease by Wortmann, S. B., Lefeber, D. J., Dekomien, G., Willemsen, M. A. A. P., Wevers, R. A., Morava, E.

“…Summary Substrate deprivation therapy has been successfully applied in a number of lysosomal storage diseases, such as Gaucher disease. So far only limited…”
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Congenital disorder of glycosylation type Ix: Review of clinical spectrum and diagnostic steps by Morava, É., Wosik, H., Kárteszi, J., Guillard, M., Adamowicz, M., Sykut-Cegielska, J., Hadzsiev, K., Wevers, R. A., Lefeber, D. J.

“…Summary Congenital disorder of glycosylation type I (CDG I) represent a rapidly growing group of inherited multisystem disorders with 13 genetically…”
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Transferrin hypoglycosylation in hereditary fructose intolerance: Using the clues and avoiding the pitfalls by Adamowicz, M, Płoski, R, Rokicki, D, Morava, E, Giżewska, M, Mierzewska, H, Pollak, A, Lefeber, D. J, Wevers, R. A, Pronicka, E

“…Hereditary fructose intolerance (HFI) is caused by a deficiency of aldolase B due to mutations of the ALDOB gene. The disease poses diagnostic problems because…”
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Thrombotic complications in patients with PMM2-CDG by Linssen, M., Mohamed, M., Wevers, R.A., Lefeber, D.J., Morava, E.

“…Many proteins regulating coagulation, including factor IX, factor XI, Antithrombin-III, Protein C and Protein S are deficient or decreased in activity in…”
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Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect by Morena‐Barrio, M. E., Martínez‐Martínez, I., Cos, C., Wypasek, E., Roldán, V., Undas, A., Scherpenzeel, M., Lefeber, D. J., Toderici, M., Sevivas, T., España, F., Jaeken, J., Corral, J., Vicente, V.

“…Essentials We investigated the molecular base of antithrombin deficiency in cases without SERPINC1 defects. 27% of cases presented hypoglycosylation, transient…”
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Mimicking Behçet’s disease: GM‐CSF gain of function mutation in a family suffering from a Behçet’s disease‐like disorder marked by extreme pathergy by Rösler, B., Heinhuis, B., Wang, X., Silvestre, R., Joosten, L. A. B., Netea, M. G., Arts, P., Mantere, T., Lefeber, D. J., Hoischen, A., Veerdonk, F. L.

“…Summary Behçet’s disease (BD) is an inflammatory disease mainly affecting men along the ancient Silk Route. In the present study we describe a Dutch family…”
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Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations by Drijvers, JM, Lefeber, DJ, De Munnik, SA, Pfundt, R, Van De Leeuw, N, Marcelis, C, Thiel, C, Koerner, C, Wevers, RA, Morava, E

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Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) by Haer-Wigman, Lonneke, Newman, Hadas, Leibu, Rina, Bax, Nathalie M, Baris, Hagit N, Rizel, Leah, Banin, Eyal, Massarweh, Amir, Roosing, Susanne, Lefeber, Dirk J, Zonneveld-Vrieling, Marijke N, Isakov, Ofer, Shomron, Noam, Sharon, Dror, Den Hollander, Anneke I, Hoyng, Carel B, Cremers, Frans P M, Ben-Yosef, Tamar

“…Retinitis pigmentosa (RP), the most common form of inherited retinal degeneration, is clinically and genetically heterogeneous and can appear as syndromic or…”
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Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry by Barbosa, E.A., Fontes, N. do C., Santos, S.C.L., Lefeber, D.J., Bloch, C., Brum, J.M., Brand, G.D.

“…Type II Congenital Disorders of Glycosylation (CDG-II) are a group of diseases with challenging diagnostics characterized by defects in the processing of…”
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PGM1 deficiency: substrate use during exercise and effect of treatment with galactose by Voermans, N.C, Preisler, N, Madsen, K.L, Janssen, M.C.H, Kusters, B, Abu Bakar, N, Conte, F, Lamberti, V.M.L, Nusman, F, van Engelen, B.G, van Scherpenzeel, M, Vissing, J, Lefeber, D.J

“…Highlights • PGM1 deficiency is associated with severe exercise intolerance due to a block in skeletal muscle glycogenolytic capacity. • Oral galactose…”
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Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival by Hucthagowder, Vishwanathan, Morava, Eva, Kornak, Uwe, Lefeber, Dirk J., Fischer, Björn, Dimopoulou, Aikaterini, Aldinger, Annika, Choi, Jiwon, Davis, Elaine C., Abuelo, Dianne N., Adamowicz, Maciej, Al-Aama, Jumana, Basel-Vanagaite, Lina, Fernandez, Bridget, Greally, Marie T., Gillessen-Kaesbach, Gabriele, Kayserili, Hulya, Lemyre, Emmanuelle, Tekin, Mustafa, Türkmen, Seval, Tuysuz, Beyhan, Yüksel-Konuk, Berrin, Mundlos, Stefan, Van Maldergem, Lionel, Wevers, Ron A., Urban, Zsolt

“…Autosomal recessive cutis laxa type 2 (ARCL2), a syndrome of growth and developmental delay and redundant, inelastic skin, is caused by mutations in the a2…”
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A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy by Van den Bergh, P.Y.K., Sznajer, Y., Van Parys, V., van Tol, W., Wevers, R.A., Lefeber, D.J., Xu, L., Lek, M., MacArthur, D.G., Johnson, K., Phillips, L., Töpf, A., Straub, V.

“…•Dolichol-P-mannose (DPM) synthase is essential for alpha-dystroglycan O-glycosylation.•DPM synthase is composed of 3 subunits (DPM1, DPM2, and DPM3).•DPM…”
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Corrigendum to “A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy” [Neuromuscular disorders 27/11 (2017) 1043–1046] by Van den Bergh, P.Y.K., Sznajer, Y., Van Parys, V., van Tol, W., Wevers, R.A., Lefeber, D.J., Xu, L., Lek, M., MacArthur, D.G., Johnson, K., Phillips, L., Töpf, A., Straub, V.

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Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal  -dystroglycan O-mannosylation, independent from sialic acid by Riemersma, M., Sandrock, J., Boltje, T. J., Bull, C., Heise, T., Ashikov, A., Adema, G. J., van Bokhoven, H., Lefeber, D. J.

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Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation by Morava, E, Lefeber, D J, Urban, Z, de Meirleir, L, Meinecke, P, Gillessen Kaesbach, G, Sykut-Cegielska, J, Adamowicz, M, Salafsky, I, Ranells, J, Lemyre, E, van Reeuwijk, J, Brunner, H G, Wevers, R A

“…Autosomal recessive cutis laxa is a genetically heterogeneous condition. Its molecular basis is largely unknown. Recently, a combined disorder of N- and…”
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New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype by Delnooz, C C S, Lefeber, D J, Langemeijer, S M C, Hoffjan, S, Dekomien, G, Zwarts, M J, Van Engelen, B G M, Wevers, R A, Schelhaas, H J, van de Warrenburg, B P C

“…Sandhoff disease is a lipid-storage disorder caused by a defect in ganglioside metabolism. It is caused by a lack of functional N-acetyl-β-d-glucosaminidase A…”
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