Published in Prenat Diagn on October 01, 1999
Clinical course of sly syndrome (mucopolysaccharidosis type VII). J Med Genet (2016) 0.84
Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature. Orphanet J Rare Dis (2012) 0.82
Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII. Prenat Diagn (2017) 0.75
Sanfilippo syndrome: a mini-review. J Inherit Metab Dis (2008) 2.35
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet (1999) 1.99
[Rupture of the pregnant uterus]. Ned Tijdschr Geneeskd (1993) 1.93
Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses. Clin Chem (1989) 1.91
Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease. Biochim Biophys Acta (2010) 1.65
Donor-derived cells in the central nervous system of twitcher mice after bone marrow transplantation. Science (1988) 1.60
A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A). Clin Chim Acta (1990) 1.57
An improved two dimensional thin-layer chromatography system for the separation of phosphatidylglycerol and its derivatives. J Lipid Res (1976) 1.54
Phospholipase A2 is present in meconium and inhibits the activity of pulmonary surfactant: an in vitro study. Acta Paediatr (2001) 1.50
Outcome for children treated with fetal intravascular transfusions because of severe blood group antagonism. J Pediatr (1997) 1.47
Iron overload, free radical damage, and rhesus haemolytic disease. Lancet (1990) 1.44
The disappearance of fetal and donor red blood cells in alloimmunised pregnancies: a reappraisal. Br J Obstet Gynaecol (1997) 1.44
Typing of fetal platelet alloantigens when platelets are not available. Lancet (1990) 1.41
Detection of fetomaternal haemorrhage associated with cordocentesis using serum alpha-fetoprotein and the Kleihauer technique. Prenat Diagn (1995) 1.41
Alterations in cord blood leukocyte subsets of patients with severe hemolytic disease after intrauterine transfusion therapy. J Pediatr (1997) 1.39
[Blood group immunization: results of treatment of fetal anemia with intra-uterine intravascular blood transfusion in the Netherlands, 1987-1995]. Ned Tijdschr Geneeskd (1999) 1.39
The total free radical trapping ability of cord blood plasma in preterm and term babies. Pediatr Res (1989) 1.23
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab (2007) 1.18
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. Eur J Hum Genet (1999) 1.17
Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia. J Pediatr (1996) 1.13
Reproductive age mortality survey to study under-reporting of maternal mortality in Surinam. Eur J Obstet Gynecol Reprod Biol (1998) 1.10
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
Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV. Arch Dis Child (1987) 1.07
Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value. Hum Mutat (1997) 1.02
Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. Ann Neurol (1998) 1.01
Selective termination in quintuplet pregnancy during first trimester. Lancet (1986) 0.99
Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse. J Clin Invest (1988) 0.99
The severity of immune fetal hydrops is predictive of fetal outcome after intrauterine treatment. Am J Obstet Gynecol (2001) 0.97
Preeclampsia and genetic risk factors for thrombosis: a case-control study. Am J Obstet Gynecol (1999) 0.96
The twitcher mouse. Central nervous system pathology after bone marrow transplantation. Lab Invest (1988) 0.95
Transbilayer distribution and mobility of phosphatidylcholine in intact erythrocyte membranes. A study with phosphatidylcholine exchange protein. Eur J Biochem (1980) 0.93
Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders. Clin Chem (1995) 0.93
beta-Glucuronidase deficiency as a cause of fetal hydrops. Am J Med Genet (1992) 0.91
Safety of early amniocentesis. Lancet (1994) 0.90
Cytogenetic findings in 1250 chorionic villus samples obtained in the first trimester with clinical follow-up of the first 1000 pregnancies. Br J Obstet Gynaecol (1989) 0.90
No beneficial effect of low-dose fetal intravenous gammaglobulin administration in combination with intravascular transfusions in severe Rh D haemolytic disease. Vox Sang (1994) 0.88
A less invasive treatment strategy to prevent intracranial hemorrhage in fetal and neonatal alloimmune thrombocytopenia. Am J Obstet Gynecol (2001) 0.88
Induction of additional red cell alloantibodies after intrauterine transfusions. Transfusion (1994) 0.88
Correction of lysosomal enzyme deficiency in various organs of beta-glucuronidase-deficient mice by allogeneic bone marrow transplantation. Transplantation (1987) 0.88
Increased cholesterol esterification in rat liver microsomes in purified non-specific phospholipid transfer protein. Biochim Biophys Acta (1982) 0.87
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. Clin Genet (2010) 0.86
Adenylosuccinase deficiency presenting with epilepsy in early infancy. J Inherit Metab Dis (1997) 0.86
Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequency. Community Genet (1999) 0.86
Evidence of endothelium involvement in the pathophysiology of hydrops fetalis? Early Hum Dev (2000) 0.86
Alleviation of neurologic symptoms after bone marrow transplantation in twitcher mice. Transplant Proc (1989) 0.86
Clinical, biochemical and molecular findings in a two-generation Morquio A family. Clin Genet (1998) 0.86
Pathology of the peripheral nerve in the twitcher mouse following bone marrow transplantation. Brain Res (1988) 0.85
Benefits and risks of fetal red-cell transfusion after 32 weeks gestation. Eur J Obstet Gynecol Reprod Biol (2000) 0.85
Amniocentesis before 14 completed weeks as an alternative to transabdominal chorionic villus sampling: a controlled trial with infant follow-up. Prenat Diagn (1998) 0.84
Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis. J Inherit Metab Dis (2001) 0.84
Mechanism of phosphatidylinostiol stimulation of lysosomal bis (monoacylglyceryl)phosphate synthesis. J Biol Chem (1978) 0.83
Twin anemia-polycythemia sequence in two monochorionic twin pairs without oligo-polyhydramnios sequence. Placenta (2006) 0.83
Association of stress during delivery with increased numbers of nucleated cells and hematopoietic progenitor cells in umbilical cord blood. Am J Obstet Gynecol (2000) 0.82
Studies on the subcellular localization and properties of bis(monoacylglyceryl)phosphate biosynthesis in rat liver. J Biol Chem (1976) 0.82
Fetal ductus venosus blood flow velocities before and after transfusion in red-cell alloimmunized pregnancies. Obstet Gynecol (1993) 0.82
Fetal cell detection in maternal blood: a study in 236 samples using erythroblast morphology, DAB and HbF staining, and FISH analysis. Cytometry (1998) 0.81
Influence of delivery on numbers of leukocytes, leukocyte subpopulations, and hematopoietic progenitor cells in human umbilical cord blood. Blood Cells (1994) 0.81
A new high-yield procedure for the purification of the non-specific phospholipid transfer protein from rat liver. Biochim Biophys Acta (1981) 0.81
Multiple birth prevalence in The Netherlands. Impact of maternal age and assisted reproductive techniques. J Reprod Med (1998) 0.81
Blood gas and pH in the human fetus with severe anemia. Fetal Diagn Ther (1998) 0.81
Phospholipid transfer proteins in rat lung. Identification of a protein specific for phosphatidylglycerol. J Biol Chem (1980) 0.81
First trimester prenatal diagnosis of haemophilia A: two years' experience. Prenat Diagn (1988) 0.81
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
Phospholipid transfer activities in Morris hepatomas and the specific contribution of the phosphatidylcholine exchange protein. Biochim Biophys Acta (1980) 0.80
Umbilical cord blood contains normal frequencies of cytotoxic T-lymphocyte precursors (ctlp) and helper T-lymphocyte precursors against noninherited maternal antigens and noninherited paternal antigens. Ann Hematol (1996) 0.80
Effect of atracurium or pancuronium on the anemic fetus during and directly after intravascular intrauterine transfusion. A double blind randomized study. Acta Obstet Gynecol Scand (1999) 0.80
Preventing the recurrence of atonic postpartum hemorrhage: a double-blind trial. Acta Obstet Gynecol Scand (1995) 0.80
Limited protection against iron-induced lipid peroxidation by cord blood plasma. Free Radic Res Commun (1992) 0.79
Biosynthesis of phosphatidylcholine from a phosphocholine precursor pool derived from the late endosomal/lysosomal degradation of sphingomyelin. J Biol Chem (2001) 0.79
Congenital microcephaly, infantile spasms, psychomotor retardation, and nephrotic syndrome in two sibs. Eur J Pediatr (1987) 0.79
Metabolic fate of oleic acid derived from lysosomal degradation of cholesteryl oleate in human fibroblasts. J Lipid Res (1996) 0.79
Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype. Neuromuscul Disord (1999) 0.79
Clinical value of an antibody-dependent cell-mediated cytotoxicity assay in the management of Rh D alloimmunization. Am J Obstet Gynecol (2001) 0.78
The value of routine cervical cultures before transcervical chorionic villus sampling. Prenat Diagn (1989) 0.78
Human platelet antigen-1 (Zw) typing of fetuses by analysis of polymerase chain reaction-amplified genomic DNA from amniocytes. Transfus Med (1994) 0.78
Survival of donor cells 25 years after intrauterine transfusion. Blood (2000) 0.78
Fetal thrombocytopenia. Curr Opin Obstet Gynecol (1998) 0.78
Strategies for rare-event detection: an approach for automated fetal cell detection in maternal blood. Am J Hum Genet (1998) 0.78
Low dose sulprostone for termination of second and third trimester pregnancies. Eur J Obstet Gynecol Reprod Biol (2001) 0.78
Genotype assignment of haemophilia A by use of intragenic and extragenic restriction fragment length polymorphisms. Thromb Haemost (1987) 0.78
Fetal and maternal energy metabolism during labor in relation to the available caloric substrate. J Perinat Med (2001) 0.78
Safety of chorionic villus sampling. Lancet (1985) 0.78
Measurement of phosphatidylcholine transfer protein in rat liver and hepatomas by radioimmunoassay. Biochim Biophys Acta (1981) 0.78
An evaluation of 75 terminations of pregnancy based on abnormal laboratory findings at first trimester CVS. Clin Genet (1990) 0.78
Development of a preparation and staining method for fetal erythroblasts in maternal blood: simultaneous immunocytochemical staining and FISH analysis. Cytometry (1998) 0.77
Detection of 'rare event' fetal erythroblasts in maternal blood using automated microscopy. Early Hum Dev (1996) 0.77
Nonspecific lipid transfer protein from rat liver. Methods Enzymol (1983) 0.77
The contribution of DNA analysis to carrier detection and prenatal diagnosis of hemophilia A and B. Ann Hematol (1992) 0.77
Chorionic villi sampling: cytogenetic and clinical findings in 500 pregnancies. Br Med J (Clin Res Ed) (1987) 0.77
Ketanserin versus dihydralazine in the management of severe early-onset preeclampsia: maternal outcome. Am J Obstet Gynecol (1999) 0.77
[Rhesus antagonism]. Ned Tijdschr Geneeskd (1986) 0.77
Conversion of diphosphatidylglycerol to bis(monoacylglyceryl)phosphate by lysosomes. J Lipid Res (1978) 0.76
Insulin resistance in type 1 (insulin-dependent) diabetes: dissimilarities for glucose and intermediary metabolites. Diabetes Res (1990) 0.76
Two-colour immunocytochemical staining of gamma (gamma) and epsilon (epsilon) type haemoglobin in fetal red cells. Prenat Diagn (1998) 0.76
Studies on nucleotide diphosphate diacylglycerol specificity of acidic phospholipid biosynthesis in rat liver subcellular fractions. Biochim Biophys Acta (1976) 0.76
Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands. J Inherit Metab Dis (1998) 0.76
Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation. Eur J Pediatr (1992) 0.75
[Less medicalization of obstetrics in West Friesian islands than on the mainland]. Ned Tijdschr Geneeskd (2000) 0.75
Assessment of prenatal karyotypes. Hum Reprod (2000) 0.75
[10 years of chorionic villi sampling and the weighing against amniocentesis]. Ned Tijdschr Geneeskd (1993) 0.75