PubRank

O P van Diggelen

Author PubWeight™ 84.03‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 1997 6.66
2 The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 1999 3.54
3 Sanfilippo syndrome: a mini-review. J Inherit Metab Dis 2008 2.35
4 A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease). J Inherit Metab Dis 2001 1.49
5 Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? Neurology 2008 1.45
6 Coexistence of Gaucher disease type 1 and Joubert syndrome. J Med Genet 1998 1.40
7 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 K. Neuropediatrics 2003 1.39
8 Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab 2007 1.29
9 Elevated plasma chitotriosidase activity in various lysosomal storage disorders. J Inherit Metab Dis 1995 1.28
10 A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency. Biochem Biophys Res Commun 1998 1.27
11 Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology 2004 1.19
12 Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab 2007 1.18
13 A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA). J Inherit Metab Dis 1996 1.15
14 Workshop on inborn errors of metabolism. Prog Clin Biol Res 1982 1.09
15 A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C). J Inherit Metab Dis 1993 1.05
16 A juvenile variant of glycogenosis IV (Andersen disease). Eur J Pediatr 1986 1.04
17 Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. J Med Genet 1999 1.01
18 Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. J Med Genet 1996 1.01
19 Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy? Eur J Hum Genet 2001 0.99
20 A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID). J Inherit Metab Dis 1993 0.96
21 Juvenile hyaline fibromatosis: clinical heterogeneity in three patients. Dermatology 1999 0.95
22 Intergenic complementation after fusion of fibroblasts from different patients with beta-galactosidase deficiency. Biochim Biophys Acta 1979 0.95
23 Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay. Prenat Diagn 2002 0.94
24 Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection. Eur J Pediatr 1992 0.94
25 Enhanced proteolytic degradation of normal beta-galactosidase in the lysosomal storage disease with combined beta-galactosidase and neuraminidase deficiency. Biochim Biophys Acta 1982 0.93
26 A diagnostic protocol for adult-onset glycogen storage disease type II. Neurology 1999 0.92
27 Beta-mannosidosis in two brothers with hearing loss. J Inherit Metab Dis 1988 0.91
28 Morquio B syndrome: a primary defect in beta-galactosidase. Am J Med Genet 1983 0.91
29 Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). Hum Mutat 1997 0.91
30 Different phenotypic expression in relatives with fabry disease caused by a W226X mutation. Am J Med Genet 1999 0.90
31 Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology 2001 0.90
32 A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants. J Med Genet 1999 0.89
33 First trimester diagnosis of Hunter syndrome on chorionic villi. Lancet 1984 0.89
34 Debranching enzyme in fibroblasts, amniotic fluid cells and chorionic villi: pre- and postnatal diagnosis of glycogenosis type III. Clin Chim Acta 1985 0.89
35 Two genetically different MU-NANA neuraminidases in human leucocytes. Biochem Biophys Res Commun 1983 0.87
36 Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family. Am J Med Genet 1997 0.87
37 Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families. Pediatr Res 1996 0.87
38 Reduction in cellular tumorigenicity after mycoplasma infection and elimination of mycoplasma from infected cultures by passage in nude mice. Cancer Res 1977 0.87
39 Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8. J Med Genet 2004 0.86
40 Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequency. Community Genet 1999 0.86
41 Clinical, biochemical and molecular findings in a two-generation Morquio A family. Clin Genet 1998 0.86
42 Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin. J Inherit Metab Dis 1997 0.85
43 Pitfalls in the diagnosis of multiple sulfatase deficiency. Neuropediatrics 2001 0.85
44 A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60. Biochem Biophys Res Commun 1993 0.84
45 Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? Eur J Hum Genet 1999 0.84
46 Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. J Inherit Metab Dis 1995 0.84
47 Prenatal diagnosis of cystic kidney disease with ventriculomegaly: a report of six cases in two related sibships. Am J Med Genet 1989 0.84
48 Endogenous HPRT activity in a cryptic strain of mycoplasma and its effect on cellular resistance to selective media in infected cell lines. Exp Cell Res 1977 0.84
49 The association of ribosomal subunits of Escherichia coli. 1. Two types of association products differing in their apparent sedimentation coefficient. Eur J Biochem 1973 0.84
50 First-trimester diagnosis of galactosaemia. Lancet 1986 0.83
51 A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. Neuromuscul Disord 1999 0.83
52 Type I sialidosis: a clinical, biochemical and neuroradiological study. Eur Neurol 2000 0.83
53 Biosynthesis of human alpha-N-acetylgalactosaminidase: defective phosphorylation and maturation in infantile alpha-NAGA deficiency. Biochem Biophys Res Commun 1991 0.83
54 Lysosomal alpha-N-acetylgalactosaminidase deficiency: a new inherited metabolic disease. Lancet 1987 0.83
55 Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB). Am J Hum Genet 1997 0.82
56 Formation of 61 s and 70 s particles from ribosomal subunits of Escherichia coli. J Mol Biol 1971 0.81
57 Prenatal diagnosis of Niemann-Pick disease type C. Clin Chim Acta 1992 0.81
58 Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency. Eur J Neurol 2007 0.81
59 First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis. Prenat Diagn 2001 0.81
60 Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency. J Inherit Metab Dis 2005 0.81
61 Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders. Clin Chem 2000 0.80
62 Complementation studies in human and caprine beta-mannosidosis. J Inherit Metab Dis 1991 0.80
63 Disaccharidases in amniotic fluid as possible prenatal marker for cystic fibrosis. Lancet 1983 0.80
64 Assessment of deficiencies of fatty acyl-CoA dehydrogenases in fibroblasts, muscle and liver. J Inherit Metab Dis 1992 0.79
65 The association of ribosomal subunits of Escherichia coli. 2. Two types of association products differing in sensitivity to hydrostatic pressure generated during centrifugation. Eur J Biochem 1973 0.79
66 Studies on the pathogenesis of Costello syndrome. J Med Genet 2003 0.78
67 Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms. Eur J Neurol 2000 0.78
68 Electrophoretic separation of Escherichia coli ribosomal particles on polyacrylamide gels. Eur J Biochem 1973 0.78
69 Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14). Am J Med Genet 1999 0.77
70 Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis? Pediatr Res 1995 0.77
71 Prenatal diagnosis of Sanfilippo A syndrome: experience in 35 pregnancies at risk and the use of a new fluorogenic substrate for the heparin sulphamidase assay. Prenat Diagn 1996 0.77
72 beta-Mannosidase in human leukocytes and fibroblasts. J Inherit Metab Dis 1984 0.77
73 First-trimester diagnosis of Morquio disease type A. Prenat Diagn 2000 0.77
74 New mutations in the neuronal ceroid lipofuscinosis genes. Eur J Paediatr Neurol 2001 0.77
75 Applications of a new fluorimetric enzyme assay for the diagnosis of aspartylglucosaminuria. J Inherit Metab Dis 1993 0.77
76 Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD. Mol Genet Metab 2011 0.77
77 Amniotic fluid disaccharidases in the prenatal detection of cystic fibrosis. Prenat Diagn 1985 0.77
78 The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A. Clin Chim Acta 1999 0.77
79 Isolation of somatic cell mutants with specified alterations in hypoxanthine phosphoribosyltransferase. Somatic Cell Genet 1980 0.77
80 Enzymatic diagnosis of Morquio A syndrome with a new fluorimetric substrate. Chin Med Sci J 1991 0.76
81 Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands. J Inherit Metab Dis 1998 0.76
82 An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity. Eur J Hum Genet 1999 0.76
83 Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings. J Inherit Metab Dis 2004 0.75
84 First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis. Prenat Diagn 1999 0.75
85 [From gene to disease; Krabbe disease and galactosylceramidase deficiency]. Ned Tijdschr Geneeskd 2004 0.75
86 Elimination of mycoplasmas from infected cell cultures by combined trypsin/antibiotics treatment. J Inherit Metab Dis 1986 0.75
87 [The stability of freeze-drying lysosomal enzymes]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 1998 0.75
88 Basis for differential cellular sensitivity to 8-azaguanine and 6-thioguanine. J Cell Physiol 1979 0.75
89 Prenatal diagnosis of the neuronal ceroid lipofuscinoses. Prenat Diagn 2000 0.75
90 [From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis]. Ned Tijdschr Geneeskd 2005 0.75
91 Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion. Mol Genet Metab 2006 0.75
92 Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency. Virchows Arch 2000 0.75
93 Spontaneous cell hybridization of somatic cells present in sperm suspensions. Exp Cell Res 1976 0.75
94 X-linked ichthyosis and congenital abdominal wall defects. Int J Dermatol 1991 0.75
95 Prenatal detection of cystic fibrosis; comparative study of maltase and alkaline phosphatase activities in amniotic fluid. Prenat Diagn 1987 0.75
96 External quality assurance programme for enzymatic analysis of lysosomal storage diseases: a pilot study. J Inherit Metab Dis 2005 0.75
97 Muscular glycogen storage diseases without increased glycogen content on histopathological examination. Mol Genet Metab 2007 0.75
98 Glycogen storage disease type III with diagnosis complicated by gluten-sensitive enteropathy. J Inherit Metab Dis 1998 0.75
99 Characteristics of maltase activity in amniotic fluid. Clin Chim Acta 1985 0.75