PubRank

B J Poorthuis

Author PubWeight™ 47.87‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Sanfilippo syndrome: a mini-review. J Inherit Metab Dis 2008 2.35
2 Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet 1999 1.99
3 Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses. Clin Chem 1989 1.91
4 Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease. Biochim Biophys Acta 2010 1.65
5 Donor-derived cells in the central nervous system of twitcher mice after bone marrow transplantation. Science 1988 1.60
6 A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A). Clin Chim Acta 1990 1.57
7 An improved two dimensional thin-layer chromatography system for the separation of phosphatidylglycerol and its derivatives. J Lipid Res 1976 1.54
8 Phospholipase A2 is present in meconium and inhibits the activity of pulmonary surfactant: an in vitro study. Acta Paediatr 2001 1.50
9 The total free radical trapping ability of cord blood plasma in preterm and term babies. Pediatr Res 1989 1.23
10 Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab 2007 1.18
11 Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. Eur J Hum Genet 1999 1.17
12 Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia. J Pediatr 1996 1.13
13 Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. Hum Mutat 1997 1.10
14 Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV. Arch Dis Child 1987 1.07
15 Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value. Hum Mutat 1997 1.02
16 Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. Ann Neurol 1998 1.01
17 Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse. J Clin Invest 1988 0.99
18 The twitcher mouse. Central nervous system pathology after bone marrow transplantation. Lab Invest 1988 0.95
19 Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders. Clin Chem 1995 0.93
20 Transbilayer distribution and mobility of phosphatidylcholine in intact erythrocyte membranes. A study with phosphatidylcholine exchange protein. Eur J Biochem 1980 0.93
21 Correction of lysosomal enzyme deficiency in various organs of beta-glucuronidase-deficient mice by allogeneic bone marrow transplantation. Transplantation 1987 0.88
22 Increased cholesterol esterification in rat liver microsomes in purified non-specific phospholipid transfer protein. Biochim Biophys Acta 1982 0.87
23 Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequency. Community Genet 1999 0.86
24 Adenylosuccinase deficiency presenting with epilepsy in early infancy. J Inherit Metab Dis 1997 0.86
25 Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. Clin Genet 2010 0.86
26 Alleviation of neurologic symptoms after bone marrow transplantation in twitcher mice. Transplant Proc 1989 0.86
27 Clinical, biochemical and molecular findings in a two-generation Morquio A family. Clin Genet 1998 0.86
28 Pathology of the peripheral nerve in the twitcher mouse following bone marrow transplantation. Brain Res 1988 0.85
29 Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis. J Inherit Metab Dis 2001 0.84
30 Mechanism of phosphatidylinostiol stimulation of lysosomal bis (monoacylglyceryl)phosphate synthesis. J Biol Chem 1978 0.83
31 Studies on the subcellular localization and properties of bis(monoacylglyceryl)phosphate biosynthesis in rat liver. J Biol Chem 1976 0.82
32 A new high-yield procedure for the purification of the non-specific phospholipid transfer protein from rat liver. Biochim Biophys Acta 1981 0.81
33 Phospholipid transfer proteins in rat lung. Identification of a protein specific for phosphatidylglycerol. J Biol Chem 1980 0.81
34 Hypophosphatasia: biochemical screening of a Dutch kindred and evidence that urinary excretion of inorganic pyrophosphate is a marker for the disease. Clin Chem 1988 0.80
35 Phospholipid transfer activities in Morris hepatomas and the specific contribution of the phosphatidylcholine exchange protein. Biochim Biophys Acta 1980 0.80
36 Biosynthesis of phosphatidylcholine from a phosphocholine precursor pool derived from the late endosomal/lysosomal degradation of sphingomyelin. J Biol Chem 2001 0.79
37 Metabolic fate of oleic acid derived from lysosomal degradation of cholesteryl oleate in human fibroblasts. J Lipid Res 1996 0.79
38 Limited protection against iron-induced lipid peroxidation by cord blood plasma. Free Radic Res Commun 1992 0.79
39 Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype. Neuromuscul Disord 1999 0.79
40 Measurement of phosphatidylcholine transfer protein in rat liver and hepatomas by radioimmunoassay. Biochim Biophys Acta 1981 0.78
41 Prenatal diagnosis of lysosomal storage diseases using fetal blood. Prenat Diagn 1999 0.78
42 Nonspecific lipid transfer protein from rat liver. Methods Enzymol 1983 0.77
43 Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands. J Inherit Metab Dis 1998 0.76
44 Insulin resistance in type 1 (insulin-dependent) diabetes: dissimilarities for glucose and intermediary metabolites. Diabetes Res 1990 0.76
45 Studies on nucleotide diphosphate diacylglycerol specificity of acidic phospholipid biosynthesis in rat liver subcellular fractions. Biochim Biophys Acta 1976 0.76
46 Conversion of diphosphatidylglycerol to bis(monoacylglyceryl)phosphate by lysosomes. J Lipid Res 1978 0.76
47 Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation. Eur J Pediatr 1992 0.75
48 Raised urinary excretion of inorganic pyrophosphate in asymptomatic members of a hypophosphatasia kindred. Clin Chim Acta 1991 0.75
49 Phosphatidylcholine transfer protein from rat liver: purification and radioimmunoassay. Methods Enzymol 1983 0.75
50 Lysosomal phospholipase activity is decreased in mucolipidosis II and III fibroblasts. Biochim Biophys Acta 1999 0.75
51 [Allogeneic bone marrow transplantation in the treatment of (lysosomal) storage diseases]. Ned Tijdschr Geneeskd 1998 0.75
52 Mitochondrial encephalomyopathy, lactic acidosis and stroke in adults: two cases. J Neurol 1993 0.75
53 Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects. J Inherit Metab Dis 2001 0.75
54 [Type D Sanfilippo disease in an 8-year-old boy; a rare cause of mental retardation]. Ned Tijdschr Geneeskd 1993 0.75
55 [Gaucher's disease in childhood: presentation and treatment]. Tijdschr Kindergeneeskd 1992 0.75
56 Microtest for determination of alpha-L-iduronidase in plasma and leucocytes and its potential for diagnosing alpha-L-iduronidase deficiency. Lancet 1984 0.75
57 4-Hydroxybutyric aciduria: further clinical heterogeneity in a new case. Eur J Pediatr 1989 0.75
58 Glucose disposal and intermediary metabolism during one year of continuous subcutaneous insulin infusion (CSII). Diabetes Res Clin Pract 1991 0.75