Published in J Inherit Metab Dis on June 01, 1998
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science (1997) 6.66
The frequency of lysosomal storage diseases in The Netherlands. Hum Genet (1999) 3.54
Sanfilippo syndrome: a mini-review. J Inherit Metab Dis (2008) 2.35
A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease). J Inherit Metab Dis (2001) 1.49
Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? Neurology (2008) 1.45
Coexistence of Gaucher disease type 1 and Joubert syndrome. J Med Genet (1998) 1.40
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
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab (2007) 1.29
Elevated plasma chitotriosidase activity in various lysosomal storage disorders. J Inherit Metab Dis (1995) 1.28
A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency. Biochem Biophys Res Commun (1998) 1.27
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology (2004) 1.19
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab (2007) 1.18
A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA). J Inherit Metab Dis (1996) 1.15
Prenatal diagnosis of Sanfilippo disease type B. Hum Genet (1984) 1.14
The role of nitric oxide in bacterial meningitis in children. J Infect Dis (1996) 1.10
Workshop on inborn errors of metabolism. Prog Clin Biol Res (1982) 1.09
A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C). J Inherit Metab Dis (1993) 1.05
A juvenile variant of glycogenosis IV (Andersen disease). Eur J Pediatr (1986) 1.04
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. J Med Genet (1996) 1.01
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. J Med Genet (1999) 1.01
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy? Eur J Hum Genet (2001) 0.99
Identification of glycosaminoglycans in age-related macular deposits. Arch Ophthalmol (1996) 0.98
alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder. J Inherit Metab Dis (1988) 0.97
A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID). J Inherit Metab Dis (1993) 0.96
Juvenile hyaline fibromatosis: clinical heterogeneity in three patients. Dermatology (1999) 0.95
Intergenic complementation after fusion of fibroblasts from different patients with beta-galactosidase deficiency. Biochim Biophys Acta (1979) 0.95
Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay. Prenat Diagn (2002) 0.94
Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection. Eur J Pediatr (1992) 0.94
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
A diagnostic protocol for adult-onset glycogen storage disease type II. Neurology (1999) 0.92
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib). Hum Mutat (2000) 0.92
Beta-mannosidosis in two brothers with hearing loss. J Inherit Metab Dis (1988) 0.91
Morquio B syndrome: a primary defect in beta-galactosidase. Am J Med Genet (1983) 0.91
beta-Glucuronidase deficiency as a cause of fetal hydrops. Am J Med Genet (1992) 0.91
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). Hum Mutat (1997) 0.91
Different phenotypic expression in relatives with fabry disease caused by a W226X mutation. Am J Med Genet (1999) 0.90
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology (2001) 0.90
Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families. Am J Med Genet A (2005) 0.89
Debranching enzyme in fibroblasts, amniotic fluid cells and chorionic villi: pre- and postnatal diagnosis of glycogenosis type III. Clin Chim Acta (1985) 0.89
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
First trimester diagnosis of Hunter syndrome on chorionic villi. Lancet (1984) 0.89
Two genetically different MU-NANA neuraminidases in human leucocytes. Biochem Biophys Res Commun (1983) 0.87
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
Reduction in cellular tumorigenicity after mycoplasma infection and elimination of mycoplasma from infected cultures by passage in nude mice. Cancer Res (1977) 0.87
Immediate commencement of amino acid supplementation in preterm infants: effect on serum amino acid concentrations and protein kinetics on the first day of life. J Pediatr (1995) 0.87
Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families. Pediatr Res (1996) 0.87
Prenatal diagnosis of the urea cycle diseases: a survey of the European cases. Am J Med Genet (1995) 0.86
Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequency. Community Genet (1999) 0.86
Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8. J Med Genet (2004) 0.86
Thin-layer chromatography of oligosaccharides in urine as a rapid indication for the diagnosis of lysosomal acid maltase deficiency (Pompe's disease). Clin Chim Acta (1983) 0.86
Clinical, biochemical and molecular findings in a two-generation Morquio A family. Clin Genet (1998) 0.86
Prenatal diagnosis of Sanfilippo disease type C using a simple fluorometric enzyme assay. Prenat Diagn (1994) 0.85
Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin. J Inherit Metab Dis (1997) 0.85
Pitfalls in the diagnosis of multiple sulfatase deficiency. Neuropediatrics (2001) 0.85
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
Prenatal diagnosis of cystic kidney disease with ventriculomegaly: a report of six cases in two related sibships. Am J Med Genet (1989) 0.84
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
Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. J Inherit Metab Dis (1995) 0.84
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? Eur J Hum Genet (1999) 0.84
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
First-trimester diagnosis of galactosaemia. Lancet (1986) 0.83
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. Neuromuscul Disord (1999) 0.83
Neurologic action of megadoses of vitamins. Bibl Nutr Dieta (1986) 0.83
Type I sialidosis: a clinical, biochemical and neuroradiological study. Eur Neurol (2000) 0.83
Lysosomal alpha-N-acetylgalactosaminidase deficiency: a new inherited metabolic disease. Lancet (1987) 0.83
Biosynthesis of human alpha-N-acetylgalactosaminidase: defective phosphorylation and maturation in infantile alpha-NAGA deficiency. Biochem Biophys Res Commun (1991) 0.83
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother. J Inherit Metab Dis (1990) 0.83
L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship. Neuropediatrics (1997) 0.82
Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome. Eur J Hum Genet (2000) 0.82
L-2-Hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients. J Inherit Metab Dis (1997) 0.82
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
Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimesters. Prenat Diagn (1995) 0.81
First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis. Prenat Diagn (2001) 0.81
Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency. Eur J Neurol (2007) 0.81
Prenatal diagnosis of Niemann-Pick disease type C. Clin Chim Acta (1992) 0.81
Formation of 61 s and 70 s particles from ribosomal subunits of Escherichia coli. J Mol Biol (1971) 0.81
Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency. J Inherit Metab Dis (2005) 0.81
Successful nicotinamide treatment in an autosomal dominant behavioral and psychiatric disorder. J Inherit Metab Dis (1985) 0.80
Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders. Clin Chem (2000) 0.80
Prenatal diagnosis of citrullinemia: elevated levels of citrulline in the amniotic fluid in the three affected pregnancies. Prenat Diagn (1984) 0.80
Complementation studies in human and caprine beta-mannosidosis. J Inherit Metab Dis (1991) 0.80
Disaccharidases in amniotic fluid as possible prenatal marker for cystic fibrosis. Lancet (1983) 0.80
Amino acid solutions for premature neonates during the first week of life: the role of N-acetyl-L-cysteine and N-acetyl-L-tyrosine. JPEN J Parenter Enteral Nutr (1995) 0.79
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
Assessment of deficiencies of fatty acyl-CoA dehydrogenases in fibroblasts, muscle and liver. J Inherit Metab Dis (1992) 0.79
Electrophoretic separation of Escherichia coli ribosomal particles on polyacrylamide gels. Eur J Biochem (1973) 0.78
Studies on the pathogenesis of Costello syndrome. J Med Genet (2003) 0.78
Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms. Eur J Neurol (2000) 0.78
Plasma total odd-chain fatty acids in the monitoring of disorders of propionate, methylmalonate and biotin metabolism. J Inherit Metab Dis (1996) 0.78
beta-Mannosidase in human leukocytes and fibroblasts. J Inherit Metab Dis (1984) 0.77
Amniotic fluid disaccharidases in the prenatal detection of cystic fibrosis. Prenat Diagn (1985) 0.77
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
Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis? Pediatr Res (1995) 0.77
Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD. Mol Genet Metab (2011) 0.77