Published in Hear Res on January 01, 1986
Once versus thrice daily gentamicin in patients with serious infections. Lancet (1993) 4.92
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am J Hum Genet (1998) 2.62
Sanfilippo syndrome: a mini-review. J Inherit Metab Dis (2008) 2.35
[Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated]. Ned Tijdschr Geneeskd (2008) 2.01
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Ann Neurol (1999) 1.72
Disorders of mitochondrial fatty acyl-CoA beta-oxidation. J Inherit Metab Dis (1999) 1.67
Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease. Biochim Biophys Acta (2010) 1.65
Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis (2009) 1.58
Screening for Fabry disease in high-risk populations: a systematic review. J Med Genet (2009) 1.48
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. Nat Genet (1997) 1.47
[Leber's optic nerve atrophy; a mitochondrial hereditary disease]. Ned Tijdschr Geneeskd (1995) 1.38
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J Inherit Metab Dis (2009) 1.30
Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome. Bone Marrow Transplant (2006) 1.28
A systematic review and meta-analysis of statin therapy in children with familial hypercholesterolemia. Arterioscler Thromb Vasc Biol (2007) 1.22
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab (2007) 1.18
Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome. J Med Genet (1994) 1.15
Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress. Eur J Clin Invest (2004) 1.13
Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease. J Pediatr (1996) 1.12
The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria. J Inherit Metab Dis (2006) 1.08
Vasculopathy in patients with Fabry disease: current controversies and research directions. Mol Genet Metab (2009) 1.08
Clinical features of galactokinase deficiency: a review of the literature. J Inherit Metab Dis (2002) 1.07
Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase-deficient mice. Horm Metab Res (2006) 1.02
Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III. J Inherit Metab Dis (2008) 1.02
Remarkable differences: the course of life of young adults with galactosaemia and PKU. J Inherit Metab Dis (2009) 0.99
Pyruvate dehydrogenase kinase 4 expression is synergistically induced by AMP-activated protein kinase and fatty acids. Cell Mol Life Sci (2009) 0.97
Pearson syndrome and the role of deletion dimers and duplications in the mtDNA. J Inherit Metab Dis (2004) 0.96
High tolerance for oral galactose in classical galactosaemia: dietary implications. Arch Dis Child (2004) 0.95
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J Inherit Metab Dis (2009) 0.94
Mucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies. Curr Pharm Biotechnol (2011) 0.94
The aetiology of otosclerosis: a review of the literature. Clin Otolaryngol Allied Sci (2003) 0.94
Hearing loss and inner ear changes in a patient suffering from severe gentamicin ototoxicity. Arch Otorhinolaryngol (1980) 0.93
Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome. J Inherit Metab Dis (1995) 0.90
The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots. J Inherit Metab Dis (2005) 0.90
Tyrosinaemia type I: considerations of treatment strategy and experiences with risk assessment, diet and transplantation. J Inherit Metab Dis (1995) 0.90
Quinine pharmacokinetics: ototoxic and cardiotoxic effects in healthy Caucasian subjects and in patients with falciparum malaria. Trop Med Int Health (1998) 0.90
Audiometric patterns in ototoxicity of intra-arterial Cisplatin chemoradiation in patients with locally advanced head and neck cancer. Audiol Neurootol (2006) 0.89
Fatal neonatal liver failure and depletion of mitochondrial DNA in three children of one family. J Inherit Metab Dis (1996) 0.89
Studies on mitochondrial oxidative phosphorylation in permeabilized human skin fibroblasts: application to mitochondrial encephalomyopathies. Biochim Biophys Acta (1993) 0.88
Retrospective analysis of early postoperative hearing results obtained after stapedotomy with implantation of a new titanium stapes prosthesis. Otol Neurotol (2003) 0.88
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres. J Inherit Metab Dis (2008) 0.88
High activity of fatty acid oxidation enzymes in human placenta: implications for fetal-maternal disease. J Inherit Metab Dis (2003) 0.88
Aromatic L-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings. J Inherit Metab Dis (1998) 0.87
Tyrosinemia type I treated by NTBC: how does AFP predict liver cancer? Mol Genet Metab (2006) 0.87
Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease. J Inherit Metab Dis (2005) 0.87
Caustic injury of the oesophagus. Sixteen years experience, and introduction of a new model oesophageal stent. J Laryngol Otol (1996) 0.86
Otorhinolaryngological findings in AIDS patients: a study of 63 cases. Arch Otorhinolaryngol (1987) 0.86
Comparison of stapes prostheses: a retrospective analysis of individual audiometric results obtained after stapedotomy by implantation of a gold and a teflon piston. Am J Otol (1999) 0.86
Heterozygosity for the common LCHAD mutation (1528g>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low. Pediatr Res (2000) 0.85
L-carnitine is synthesized in the human fetal-placental unit: potential roles in placental and fetal metabolism. Placenta (2005) 0.85
Efficacy of evaluation of audiometric results after stapes surgery in otosclerosis. II. A method for reporting results from individual cases. Otolaryngol Head Neck Surg (2001) 0.85
Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome. J Inherit Metab Dis (1997) 0.84
Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease. J Inherit Metab Dis (2012) 0.84
Pink-creamy whole blood in a 3-month-old infant with a homozygous deletion in the lipoprotein lipase gene. Clin Genet (2010) 0.84
A case of carcinoid tumor of the middle ear. J Laryngol Otol (1984) 0.84
Nasogastric intubation as sole treatment of caustic esophageal lesions. Ann Otol Rhinol Laryngol (1985) 0.84
A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: determination of the molecular basis. Hum Mutat (2000) 0.83
Oncological implications of RET gene mutations in Hirschsprung's disease. Gut (1998) 0.83
Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe. J Inherit Metab Dis (2007) 0.83
Changes in the stria vascularis of the guinea pig due to cis-platinum. Arch Otorhinolaryngol (1984) 0.83
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients. Mol Genet Metab (2012) 0.83
Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease). J Inherit Metab Dis (2013) 0.82
Prolonged moderate-intensity exercise without and with L-carnitine supplementation in patients with MCAD deficiency. J Inherit Metab Dis (2006) 0.82
Analysis of placental tissue in Fabry disease with and without enzyme replacement therapy. Placenta (2010) 0.82
Severe methaemoglobinaemia due to para-chloraniline intoxication in premature neonates. Eur J Pediatr (1990) 0.82
Bilateral stapedotomy in patients with otosclerosis: a disability-orientated evaluation of the benefit of second ear surgery. Clin Otolaryngol Allied Sci (1998) 0.82
Pattern of gentamicin-induced cochlear degeneration in the guinea pig. A morphological and electrophysiological study. Arch Otorhinolaryngol (1982) 0.82
Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies. Eur J Pediatr (1990) 0.82
The importance of high-tone audiometry in monitoring for ototoxicity. Arch Otorhinolaryngol (1985) 0.82
Thromboembolic complications in an asplenic HbE-beta-thalassaemia patient. Neth J Med (1989) 0.81
High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhood. Neuropediatrics (2011) 0.81
Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain. Biochem Biophys Res Commun (2006) 0.81
Short- and long-term results with implantable transcutaneous and percutaneous bone-conduction devices. Arch Otolaryngol Head Neck Surg (1998) 0.81
Restricted upper extremity range of motion in mucopolysaccharidosis type I: no response to one year of enzyme replacement therapy. J Inherit Metab Dis (2006) 0.80
Analysis of hearing loss due to cis-diamminedichloroplatinum-II. Arch Otorhinolaryngol (1984) 0.80
The role of high-frequency audiometry in early detection of ototoxicity. Audiology (1985) 0.80
Role of high-frequency audiometry in the early detection of ototoxicity. II. Clinical Aspects. Audiology (1989) 0.79
Pathological findings in the human auditory system following long-standing gentamicin ototoxicity. Arch Otorhinolaryngol (1987) 0.79
Long-term results of glass ionomer cement, Ionocem, in the middle ear of the rat. Acta Otorhinolaryngol Belg (1997) 0.79
Once-daily gentamicin versus once-daily netilmicin in patients with serious infections--a randomized clinical trial. J Antimicrob Chemother (1994) 0.78
Effect of cysteine dosage on erythrocyte glutathione synthesis rate in a patient with cystathionine beta synthase deficiency. J Inherit Metab Dis (2008) 0.78
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene. Eur J Pediatr (1999) 0.78
Ototoxicity monitoring with ultra-high frequency audiometry in peritoneal dialysis patients treated with vancomycin or gentamicin. ORL J Otorhinolaryngol Relat Spec (1991) 0.78
A retrospective study of the hearing results obtained after stapedotomy by the implantation of two Teflon pistons with a different diameter. Eur Arch Otorhinolaryngol (1997) 0.78
Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion. Clin Genet (1996) 0.78
Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica-like syndrome. Br J Dermatol (1998) 0.78
Efficacy of evaluation of audiometric results after stapes surgery in otosclerosis. I. The effects of using different audiologic parameters and criteria on success rates. Otolaryngol Head Neck Surg (2001) 0.77
Ionomeric cement in the human middle ear cavity: long-term results of 23 cases. Laryngoscope (2001) 0.77
A revised home treatment algorithm for Fabry disease: influence of antibody formation. Mol Genet Metab (2012) 0.77
Respiratory chain function in Leber's hereditary optic neuropathy: lack of correlation with clinical disease. J Inherit Metab Dis (1993) 0.77
Prenatal diagnosis of systemic disorders of the respiratory chain in cultured chorionic villus fibroblasts by study of ATP-synthesis in digitonin-permeabilized cells. J Inherit Metab Dis (1996) 0.77
Comparison of two cochlear implantation techniques and their effects on the preservation of residual hearing. Is the surgical approach of any importance? Eur Arch Otorhinolaryngol (2013) 0.77
Evaluation of second-ear stapedotomy with the Glasgow benefit plot. ORL J Otorhinolaryngol Relat Spec (1999) 0.76
Thrombo-embolic complications after splenectomy in HbE-beta-thalassaemia. Eur J Pediatr (1988) 0.76
First experience with a new stapes clip piston in stapedotomy. Otol Neurotol (2005) 0.76
Muscle cell cultures in Menkes' disease: copper accumulation in myotubes. J Inherit Metab Dis (1990) 0.76
Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation. Clin Genet (2011) 0.76
[Clinical reasoning and decision making in practice. A 9-year-old boy with isolated splenomegaly]. Ned Tijdschr Geneeskd (2008) 0.75
A cochlear vascular anomaly in a patient with hearing loss and tinnitus. Arch Otorhinolaryngol (1981) 0.75
A new angiographic technique for asymptomatic hereditary glomus screening. Arch Otorhinolaryngol (1983) 0.75
How we do it: Reinsertion of the stylet into the nucleus contour cochlear implant to facilitate second insertion. A helpful technique salvaging the cochlear implant device. Clin Otolaryngol (2006) 0.75