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Results:
1-13
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Results: 13
Authors:
Onkenhout, W
Venizelos, V
Scholte, HR
de Klerk, JBC
Poorthuis, BJHM
Citation: W. Onkenhout et al., Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects, J INH MET D, 24(3), 2001, pp. 337-344
Authors:
Van den Hout, JMP
Reuser, AJJ
de Klerk, JBC
Arts, WF
Smeitink, JAM
Van der Ploeg, AT
Citation: Jmp. Van Den Hout et al., Enzyme therapy for Pompe disease with recombinant human alpha-glucosidase from rabbit milk, J INH MET D, 24(2), 2001, pp. 266-274
Authors:
van den Ouweland, JMW
de Klerk, JBC
van de Corput, MP
Dirks, RW
Raap, AK
Scholte, HR
Huijmans, JGM
Hart, LMT
Bruining, GJ
Maassen, JA
Citation: Jmw. Van Den Ouweland et al., Characterization of a novel mitochondrial DNA deletion in a patient with avariant of the Pearson marrow-pancreas syndrome, EUR J HUM G, 8(3), 2000, pp. 195-203
Authors:
Grunewald, S
Imbach, T
Huijben, K
Rubio-Gozalbo, ME
Verrips, A
de Klerk, JBC
Stroink, H
Andel, JFD
Van Hove, JLK
Wendel, U
Matthijs, G
Hennet, T
Jaeken, J
Wevers, RA
Citation: S. Grunewald et al., Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis, ANN NEUROL, 47(6), 2000, pp. 776-781
Authors:
Imbach, T
Grunewald, S
Schenk, B
Burda, P
Schollen, E
Wevers, RA
Jaeken, J
de Klerk, JBC
Berger, EG
Matthijs, G
Aebi, M
Hennet, T
Citation: T. Imbach et al., Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic, HUM GENET, 106(5), 2000, pp. 538-545
Authors:
Huijmans, JGM
Duran, M
de Klerk, JBC
Rovers, MJ
Scholte, HR
Citation: Jgm. Huijmans et al., Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: Effect of treatment, PEDIATRICS, 106(3), 2000, pp. 596-600
Authors:
Mancini, GMS
Stojanov, L
Willemsen, R
Kleijer, WJ
Huijmans, JGM
van Diggelen, OP
de Klerk, JBC
Vuzevski, VD
Oranje, AP
Citation: Gms. Mancini et al., Juvenile hyaline fibromatosis: Clinical heterogeneity in three patients, DERMATOLOGY, 198(1), 1999, pp. 18-25
Authors:
Stone, DL
van Diggelen, OP
de Klerk, JBC
Gaillard, JLJ
Niermeijer, MF
Willemsen, R
Tayebi, N
Sidransky, E
Citation: Dl. Stone et al., Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?, EUR J HUM G, 7(4), 1999, pp. 505-509
Authors:
Houten, SM
Romeijn, GJ
Koster, J
Gray, RGF
Darbyshire, P
Smit, GPA
de Klerk, JBC
Duran, M
Gibson, KM
Wanders, RJA
Waterham, HR
Citation: Sm. Houten et al., Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis, HUM MOL GEN, 8(8), 1999, pp. 1523-1528
Authors:
Scholte, HR
Van Coster, RNA
de Jonge, PC
Poorthuis, BJHM
Jeneson, JAL
Andresen, BS
Gregersen, N
de Klerk, JBC
Busch, HFM
Citation: Hr. Scholte et al., Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype, NEUROMUSC D, 9(5), 1999, pp. 313-319
Authors:
Vaz, FM
Scholte, HR
Ruiter, J
Hussaarts-Odijk, LM
Pereira, RR
Schweitzer, S
de Klerk, JBC
Waterham, HR
Wanders, RJA
Citation: Fm. Vaz et al., Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency, HUM GENET, 105(1-2), 1999, pp. 157-161
Authors:
Custers, JWH
Poll-The, BT
Duran, M
de Klerk, JBC
Uiterwaal, CSPM
Helders, PJM
Citation: Jwh. Custers et al., Muscle strength in children with medium-chain acyl-CoA dehydrogenase deficiency, J INH MET D, 22(2), 1999, pp. 200-201
Authors:
de Haas, V
Weber, ECC
de Klerk, JBC
Bakker, HD
Smit, GPA
Huijbers, WAR
Duran, M
Poll-The, BT
Citation: V. De Haas et al., The success of dietary protein restriction in alkaptonuria patients is age-dependent, J INH MET D, 21(8), 1998, pp. 791-798
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