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au.\*:("VAN DIGGELEN, O. P")

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Elimination of mycoplasmas from infected cell cultures by combined trypsin/antibiotics treatmentVAN DIGGELEN, O. P; NIERMEIJER, M. F.Journal of inherited metabolic disease. 1986, Vol 9, Num 4, pp 398-399, issn 0141-8955Article

Glycogen storage disease type III with diagnosis complicated by gluten-sensitive enteropathyARTAN, R; VAN DIGGELEN, O. P; HUIJMANS, J. G. M et al.Journal of inherited metabolic disease. 1998, Vol 21, Num 4, pp 437-438, issn 0141-8955Article

X-linked ichthyosis and congenital abdominal wall defectsBOUSEMA, M. T; ORANJE, A. P; VAN DIGGELEN, O. P et al.International journal of dermatology. 1991, Vol 30, Num 1, issn 0011-9059, p. 53Article

Complementation studies in human and caprine β-mannosidosisHU, P; WENGER, D. A; VAN DIGGELEN, O. P et al.Journal of inherited metabolic disease. 1991, Vol 14, Num 1, pp 13-17, issn 0141-8955, 5 p.Article

Amniotic fluid disaccharidases in the prenatal detection of cystic fibrosisKLEIJER, W. J; JANSE, H. C; VAN DIGGELEN, O. P et al.Prenatal diagnosis. 1985, Vol 5, Num 2, pp 135-143, issn 0197-3851Article

Debranching enzyme in fibroblasts, amniotic fluid cells and chorionic villi: pre- and postnatal diagnosis of glycerogenosis type IIIVAN DIGGELEN, O. P; JANSE, H. C; SMIT, G. P. A et al.Clinica chimica acta. 1985, Vol 149, Num 2-3, pp 129-134, issn 0009-8981Article

A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)VOZNYI, Ya. V; KEULEMANS, J. L. M; VAN DIGGELEN, O. P et al.Journal of inherited metabolic disease. 2001, Vol 24, Num 6, pp 675-680, issn 0141-8955Article

β-Mannosidase in human leukocytes and fibroblastsPANDAY, R. S; VAN DIGGELEN, O. P; KLEIJER, W. J et al.Journal of inherited metabolic disease. 1984, Vol 7, Num 4, pp 155-156, issn 0141-8955Article

Sanfilippo syndrome : A mini-reviewVALSTAR, M. J; RUIJTER, G. J. G; VAN DIGGELEN, O. P et al.Journal of inherited metabolic disease. 2008, Vol 31, Num 2, pp 240-252, issn 0141-8955, 13 p.Conference Paper

Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiencyMORAVA, E; WORTMANN, S. B; VAN ESSEN, H. Zweers et al.Journal of inherited metabolic disease. 2005, Vol 28, Num 5, pp 703-706, issn 0141-8955, 4 p.Article

Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: Pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 KHARZER, K; ROLFS, A; KRÄGELOH-MANN, I et al.Neuropediatrics. 2003, Vol 34, Num 6, pp 301-306, issn 0174-304X, 6 p.Article

A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID)WANG HE; VOZNYI, YA. V; BOER, A. M et al.Journal of inherited metabolic disease. 1993, Vol 16, Num 6, pp 935-941, issn 0141-8955Article

Applications of a new fluorimetric enzyme assay for the diagnosis of aspartylglucosaminuriaVOZNYI, YA. V; KEULEMANS, J. L. M; KLEIJER, W. J et al.Journal of inherited metabolic disease. 1993, Vol 16, Num 6, pp 929-934, issn 0141-8955Article

Prenatal diagnosis of morquio disease type a using a simple fluorometric enzyme assayZHAO, H; VAN DIGGELEN, O. P; THOOMES, R et al.Prenatal diagnosis. 1990, Vol 10, Num 2, pp 85-91, issn 0197-3851, 7 p.Article

Prenatal detection of cystic fibrosis; comparative study of maltase and alkaline phosphatase activities in amniotic fluidCLAASS, A. H. W; KLEIJER, W. J; VAN DIGGELEN, O. P et al.Prenatal diagnosis. 1986, Vol 6, Num 6, pp 419-427, issn 0197-3851Article

Storage of sialic acid-containing carbohydrates in the placenta of a human galactosialidosis fetus: isolation and structural characterization of 16 sialyloligosaccharidesVAN PELT, J; VAN KUIK, J. A; KAMERLING, J. P et al.European journal of biochemistry (Print). 1988, Vol 177, Num 2, pp 327-338, issn 0014-2956Article

Characteristics of maltase activity in amniotic fluidCLAASS, A. H. W; VAN DIGGELEN, O. P; HAURI, H.-P et al.Clinica chimica acta. 1985, Vol 145, Num 3, pp 275-281, issn 0009-8981Article

Late-onset globoid cell leucodystrophy (Krabbés disease). Clinical and genetic delineation of two forms and their relation to the early-infantile formLOONEN, M. C. B; VAN DIGGELEN, O. P; JANSE, H. C et al.Neuropediatrics. 1985, Vol 16, Num 3, pp 137-142, issn 0174-304XArticle

Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency : four sibs devoid of pathologyMOURMANS, J; BAKKEREN, J; DE JONG, J et al.Journal of inherited metabolic disease. 1995, Vol 18, Num 5, pp 643-645, issn 0141-8955Article

Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblingsGIUFFRE, B; PARINI, R; RIZZWI, T et al.Journal of inherited metabolic disease. 2004, Vol 27, Num 5, pp 609-619, issn 0141-8955, 11 p.Article

Prenatal diagnosis of Niemann-Pick disease type CDE WINTER, J. M; JANSE, H. C; VAN DIGGELEN, O. P et al.Clinica chimica acta. 1992, Vol 208, Num 3, pp 173-181, issn 0009-8981Article

First trimester diagnosis of Wolman's diseaseVAN DIGGELEN, O. P; VON KOSKULL, H; ÄMMÄLÄ, P et al.Prenatal diagnosis. 1988, Vol 8, Num 9, pp 661-663, issn 0197-3851Article

A juvenile variant of glycogenosis IV (Andersen disease)GUERRA, A. S; VAN DIGGELEN, O. P; CARNEIRO, F et al.European journal of pediatrics. 1986, Vol 145, Num 3, pp 179-181, issn 0340-6199Article

Characteristics of maltase activity in amniotic fluidCLAASS, A. H. W; VAN DIGGELEN, O. P; HAURI, H.-P et al.Clinica chimica acta. 1985, Vol 145, Num 3, pp 275-281, issn 0009-8981Article

Mucopolysaccharidosis type IIIB (Sanfilippo B) : identification of 18 novel α-N-acetylglucosaminidase gene mutationsBUNGE, S; KNIGGE, A; STEGLICH, C et al.Journal of medical genetics. 1999, Vol 36, Num 1, pp 28-31, issn 0022-2593Article

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