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Results:
1-10
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Results: 10
Authors:
Bakker, HD
de Sonnaville, MLCS
Vreken, P
Abeling, NGGM
Groener, JEM
Keulemans, JLM
van Diggelen, OP
Citation: Hd. Bakker et al., Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?, EUR J HUM G, 9(2), 2001, pp. 91-96
Authors:
Jansen, SM
Groener, JEM
Bax, W
Poorthuis, BJHM
Citation: Sm. Jansen et al., Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis, J INH MET D, 24(5), 2001, pp. 577-586
Authors:
Jansen, SM
Groener, JEM
Bax, W
Suter, A
Saftig, P
Somerharju, P
Poorthuis, BJHM
Citation: Sm. Jansen et al., Biosynthesis of phosphatidylcholine from a phosphocholine precursor pool derived from the late endosomal/lysosomal degradation of sphingomyelin, J BIOL CHEM, 276(22), 2001, pp. 18722-18727
Authors:
Groener, JEM
Bax, W
Stuani, C
Pagani, F
Citation: Jem. Groener et al., Difference in substrate specificity between human and mouse lysosomal acidlipase: low affinity for cholesteryl ester in mouse lysosomal acid lipase, BBA-MOL C B, 1487(2-3), 2000, pp. 155-162
Authors:
van Lijnschoten, G
Groener, JEM
Maas, SM
Ben-Yoseph, Y
Dingemans, KP
Offerhaus, GJA
Citation: G. Van Lijnschoten et al., Intrauterine fetal death due to Farber disease: Case report, PEDIATR D P, 3(6), 2000, pp. 597-602
Authors:
Jong, MC
Hendriks, WL
van Vark, LC
Dahlmans, VEH
Groener, JEM
Havekes, LM
Citation: Mc. Jong et al., Oxidized VLDL induces less triglyceride accumulation in J774 macrophages than native VLDL due to an impaired extracellular lipolysis, ART THROM V, 20(1), 2000, pp. 144-151
Authors:
Jansen, SM
Groener, JEM
Poorthuis, BJHM
Citation: Sm. Jansen et al., Lysosomal phospholipase activity is decreased in mucolipidosis II and III fibroblasts, BBA-MOL C B, 1436(3), 1999, pp. 363-369
Authors:
Poorthuis, BJHM
Wevers, RA
Kleijer, WJ
Groener, JEM
de Jong, JGN
van Weely, S
Niezen-Koning, KE
van Diggelen, OP
Citation: Bjhm. Poorthuis et al., The frequency of lysosomal storage diseases in The Netherlands, HUM GENET, 105(1-2), 1999, pp. 151-156
Authors:
Groener, JEM
de Graaf, FL
Poorthuis, BJHM
Kanhai, HHH
Citation: Jem. Groener et al., Prenatal diagnosis of lysosomal storage diseases using fetal blood, PRENAT DIAG, 19(10), 1999, pp. 930-933
Authors:
Claeys, M
Van der Hoeven, M
de Die-Smulders, C
Bakker, JA
Offermans, JPM
Forget, PP
Groener, JEM
Spaapen, LJM
Citation: M. Claeys et al., Early-infantile type of galactosialidosis as a cause of heart failure and neonatal ascites, J INH MET D, 22(5), 1999, pp. 666-667
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