Simvastatin and plasma very-long-chain fatty acids in X-linked adrenoleukodystrophy.

PubWeight™: 1.04‹?› | Rank: Top 15%

🔗 View Article (PMID 10762175)

Published in Ann Neurol on April 01, 2000

Authors

A Verrips, M A Willemsen, E Rubio-Gozalbo, J De Jong, J A Smeitink

Articles by these authors

Assessment of antibodies to double-stranded DNA induced in rheumatoid arthritis patients following treatment with infliximab, a monoclonal antibody to tumor necrosis factor alpha: findings in open-label and randomized placebo-controlled trials. Arthritis Rheum (2000) 6.46

A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet (1998) 4.96

Mitochondrial toxicity induced by nucleoside-analogue reverse-transcriptase inhibitors is a key factor in the pathogenesis of antiretroviral-therapy-related lipodystrophy. Lancet (1999) 3.41

Adverse effects of reverse transcriptase inhibitors: mitochondrial toxicity as common pathway. AIDS (1998) 3.16

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet (2005) 2.80

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am J Hum Genet (1998) 2.62

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Ann Neurol (1999) 1.72

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum Mutat (2000) 1.72

Prognostic factors after a first attack of inflammatory CNS demyelination in children. Neurology (2008) 1.70

Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients. Neurology (1999) 1.67

Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings. Radiology (2000) 1.63

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum Genet (1999) 1.48

Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. Biochem Biophys Res Commun (2000) 1.46

Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy. J Pediatr (2000) 1.45

OCT4: biological functions and clinical applications as a marker of germ cell neoplasia. J Pathol (2007) 1.44

Quantitative ultrasonography of skeletal muscles in children: normal values. Muscle Nerve (2003) 1.44

Respiratory chain complex I deficiency. Am J Med Genet (2001) 1.42

Ileus in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. Neth J Med (1998) 1.42

D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? Ann Neurol (1999) 1.41

Quantitative skeletal muscle ultrasound: diagnostic value in childhood neuromuscular disease. Neuromuscul Disord (2007) 1.40

[Amyoplasia congenita: a serious congenital abnormality with a relatively favorable prognosis]. Ned Tijdschr Geneeskd (2002) 1.39

Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis. J Inherit Metab Dis (2002) 1.37

Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk. J Inherit Metab Dis (2001) 1.25

Disturbances of hypothalamic-pituitary-adrenal axis functioning during ethanol withdrawal in six men. Am J Psychiatry (1991) 1.22

Psychobiological concomitants of history of suicide attempts among violent offenders and impulsive fire setters. Arch Gen Psychiatry (1989) 1.21

Altered folate and vitamin B12 metabolism in families with spina bifida offspring. QJM (1997) 1.21

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res (2001) 1.13

An update on serine deficiency disorders. J Inherit Metab Dis (2013) 1.10

Treatment and follow-up of children with cerebrotendinous xanthomatosis. Eur J Pediatr (1998) 1.10

Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis. Ann Neurol (2000) 1.09

Quantitative skeletal muscle ultrasonography in children with suspected neuromuscular disease. Muscle Nerve (2003) 1.09

Biochemical hallmarks of tyrosine hydroxylase deficiency. Clin Chem (1998) 1.09

Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome. J Lipid Res (2000) 1.09

The detection of anti-Ro/SS-A and anti-La/SS-B antibodies. A comparison of counterimmunoelectrophoresis with immunoblot, ELISA, and RNA-precipitation assays. J Immunol Methods (1990) 1.08

Norepinephrine and its metabolites in cerebrospinal fluid, plasma, and urine. Relationship to hypothalamic-pituitary-adrenal axis function in depression. Arch Gen Psychiatry (1988) 1.08

cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. Biochem Biophys Res Commun (1998) 1.08

Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns. J Biol Chem (2000) 1.08

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. Am J Hum Genet (2000) 1.03

Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders. J Bioenerg Biomembr (1998) 1.02

A comparative study of total body irradiation as a method of inducing granulocyte depletion in mice. J Immunol Methods (1984) 1.02

A scale to monitor progression and treatment of mitochondrial disease in children. Neuromuscul Disord (2006) 1.01

Hyperhomocysteinemia: a risk factor for ischemic stroke in children. Circulation (1999) 1.00

SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency. Biochem Biophys Res Commun (1999) 0.99

Autosomal dominant transmission of GLUT1 deficiency. Hum Mol Genet (2001) 0.96

Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation. Clin Genet (1996) 0.95

Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome. J Inherit Metab Dis (2008) 0.94

Relationship of psychobiological variables to recidivism in violent offenders and impulsive fire setters. A follow-up study. Arch Gen Psychiatry (1989) 0.93

Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX. J Inherit Metab Dis (2008) 0.93

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome. Ann Hum Genet (2001) 0.93

Family history of alcoholism in violent offenders and impulsive fire setters. Arch Gen Psychiatry (1989) 0.92

Cerebrospinal fluid monoamine metabolites and suicidal behavior in depressed patients. A 5-year follow-up study. Arch Gen Psychiatry (1989) 0.91

Tyrosine hydroxylase deficiency with severe clinical course. Mol Genet Metab (2009) 0.91

Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study. J Neurol (2012) 0.90

A retrospective study of patients with the hereditary syndrome of congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis. Eur J Pediatr (1993) 0.89

Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively. Neuropediatrics (2005) 0.89

Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency. Neurology (1999) 0.89

Pulmonary lymphangioleiomyomatosis and cerebrotendinous xanthomatosis: is there a link? Chest (1997) 0.88

GLUT1 deficiency syndrome into adulthood: a follow-up study. J Neurol (2014) 0.87

Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency. Pediatr Res (1994) 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

Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations. Pediatr Res (1996) 0.87

Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia. Neurology (2006) 0.87

Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. Br J Cancer (2011) 0.87

Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex. Mol Cell Biochem (1997) 0.87

Peroxisomal disorders: a review. J Inherit Metab Dis (1994) 0.87

Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations. Hum Mutat (2000) 0.87

Extraversion in pathological gamblers. Correlates with indexes of noradrenergic function. Arch Gen Psychiatry (1989) 0.86

Biochemical examination of fibroblasts in the diagnosis and research of oxidative phosphorylation (OXPHOS) defects. Mitochondrion (2004) 0.86

A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). J Inherit Metab Dis (1999) 0.86

3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. Neurology (2010) 0.86

Skeletal health in adult patients with classic galactosemia. Osteoporos Int (2012) 0.85

Phase I clinical and pharmacokinetic study of oral etoposide phosphate. J Clin Oncol (1995) 0.85

Protection against paracetamol-induced hepatotoxicity by acetylsalicylic acid in rats. Toxicology (1984) 0.85

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type. Neurology (2009) 0.85

Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency. J Lipid Res (1996) 0.85

beta-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain. Biochim Biophys Acta (1999) 0.85

Clinical heterogeneity in respiratory chain complex III deficiency in childhood. J Neurol Sci (1997) 0.84

[Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease]. Ned Tijdschr Geneeskd (1998) 0.84

Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. Clin Chem (1999) 0.84

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. Hum Genet (1998) 0.84

A transient neonatal myasthenic syndrome with anti-musk antibodies. Neurology (2008) 0.83

Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency. Br J Ophthalmol (1997) 0.83

L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency. Neurology (2000) 0.83

Bile acid deconjugation by Lactobacilli and its effects in patients with a short small bowel. J Gastroenterol (2000) 0.83

Mitochondrial oxidative phosphorylation system assembly in man: recent achievements. Curr Opin Neurol (2001) 0.82

Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype. Eur J Paediatr Neurol (2012) 0.82

Peripheral blood lymphocyte appearance in a case of I cell disease. J Clin Pathol (2001) 0.82

Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases. Neurology (2010) 0.82

A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients. Arch Biochem Biophys (1998) 0.81

Cerebellar involvement as a rare complication of pneumococcal meningitis. Neuropediatrics (2000) 0.81

Acute hemodynamic effects of nifedipine in patients with ischemic heart disease. Circulation (1982) 0.81

Effects on chick performance and nutrient digestibility of an endo-xylanase added to a wheat- and rye-based diet in relation to fat source. Br Poult Sci (1997) 0.81

Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders. Eur J Cell Biol (1995) 0.81

Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency. Eur J Pediatr (1994) 0.80

Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry. Hum Mutat (1998) 0.80

X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. Am J Hum Genet (1995) 0.80

Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency. Magn Reson Imaging (1999) 0.80

New treatment strategy for Smith-Lemli-Opitz syndrome. Lancet (1997) 0.79