Published in Clin Chim Acta on October 01, 2002
Metabolomics-based methods for early disease diagnostics. Expert Rev Mol Diagn (2008) 2.51
The national Austrian newborn screening program - eight years experience with mass spectrometry. past, present, and future goals. Wien Klin Wochenschr (2010) 0.96
Metabolomics enables precision medicine: "A White Paper, Community Perspective". Metabolomics (2016) 0.93
Screening criteria: the need to deal with new developments and ethical issues in newborn metabolic screening. J Community Genet (2012) 0.87
Biomarker Discovery and Translation in Metabolomics. Curr Metabolomics (2016) 0.77
An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1. J Inherit Metab Dis (2011) 0.75
The cardiac phenotype induced by PPARalpha overexpression mimics that caused by diabetes mellitus. J Clin Invest (2002) 4.22
Multiple organ pathology, metabolic abnormalities and impaired homeostasis of reactive oxygen species in Epas1-/- mice. Nat Genet (2003) 3.78
The mitochondrial inner membrane protein mitofilin controls cristae morphology. Mol Biol Cell (2005) 2.53
HIF-2alpha regulates murine hematopoietic development in an erythropoietin-dependent manner. Blood (2004) 1.99
Fatty acid oxidation disorders. Annu Rev Physiol (2002) 1.96
Hepatic Hdac3 promotes gluconeogenesis by repressing lipid synthesis and sequestration. Nat Med (2012) 1.87
Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry. J Pediatr (2010) 1.75
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. J Biol Chem (2010) 1.68
Sphingolipid-based drugs selectively kill cancer cells by down-regulating nutrient transporter proteins. Biochem J (2011) 1.59
Assessment of a method to expel intraperitoneal gas after gynecologic laparoscopy. J Minim Invasive Gynecol (2005) 1.41
Hyperinsulinism in infancy and childhood: when an insulin level is not always enough. Clin Chem (2007) 1.37
Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. Lab Invest (2003) 1.13
Human placenta metabolizes fatty acids: implications for fetal fatty acid oxidation disorders and maternal liver diseases. Am J Physiol Endocrinol Metab (2003) 1.11
CLN3P, the Batten's disease protein, is a novel palmitoyl-protein Delta-9 desaturase. Ann Neurol (2006) 1.08
Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. Hum Mutat (2003) 1.07
Role of short-chain hydroxyacyl CoA dehydrogenases in SCHAD deficiency. Biochem Biophys Res Commun (2007) 1.04
Short-chain acyl-coenzyme A dehydrogenase deficiency. Mol Genet Metab (2008) 1.03
PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation. J Inherit Metab Dis (2011) 1.01
Regulation of glucagon secretion in normal and diabetic human islets by γ-hydroxybutyrate and glycine. J Biol Chem (2012) 1.00
Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-deficient jvs (OCTN2(-/-)) mice. Mol Genet Metab (2007) 0.98
Green tea polyphenols control dysregulated glutamate dehydrogenase in transgenic mice by hijacking the ADP activation site. J Biol Chem (2011) 0.98
The function of CLN3P, the Batten disease protein. Mol Genet Metab (2008) 0.93
Measurement of tissue acyl-CoAs using flow-injection tandem mass spectrometry: acyl-CoA profiles in short-chain fatty acid oxidation defects. Mol Genet Metab (2012) 0.93
CLN3P, the Batten disease protein, localizes to membrane lipid rafts (detergent-resistant membranes). Biochem Biophys Res Commun (2004) 0.92
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. Mol Genet Metab (2008) 0.92
Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD). PLoS One (2009) 0.88
Over-expression of CLN3P, the Batten disease protein, inhibits PANDER-induced apoptosis in neuroblastoma cells: further evidence that CLN3P has anti-apoptotic properties. Mol Genet Metab (2006) 0.87
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. J Inherit Metab Dis (2011) 0.87
Birefringence and DNA condensation of liquid crystalline chromosomes. Eukaryot Cell (2010) 0.87
Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations. Am J Obstet Gynecol (2002) 0.86
Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency. PLoS Genet (2013) 0.85
Emergency peripartum hysterectomy: a 10-year review at the Royal Hospital for Women, Sydney. Aust N Z J Obstet Gynaecol (2011) 0.85
Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10. Am J Hum Genet (2008) 0.85
Ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome). Am J Dermatopathol (2004) 0.84
Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein. Muscle Nerve (2004) 0.84
The AGREE II instrument is helpful for creation of National Academy of Clinical Biochemistry laboratory medicine practice guidelines. Clin Chem (2012) 0.83
Establishing a reference interval for measurement of flux through the mitochondrial fatty acid oxidation pathway in cultured skin fibroblasts. Clin Chem (2005) 0.82
Mutations in long-chain 3-hydroxyacyl coenzyme a dehydrogenase are associated with placental maternal floor infarction/massive perivillous fibrin deposition. Pediatr Dev Pathol (2012) 0.82
Increased ratio of saturated to unsaturated C18 fatty acids in colonic adenocarcinoma: implications for cryotherapy and lipid raft function. Med Hypotheses (2005) 0.82
Systemic and mucosal antibody responses following retroductal gene transfer to the salivary gland. Mol Ther (2003) 0.82
Long-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency: a molecular and biochemical review. Lab Invest (2002) 0.81
Urine organic acid analysis for inherited metabolic disease using gas chromatography-mass spectrometry. Methods Mol Biol (2010) 0.81
Treatment of a methylmalonyl-CoA mutase stopcodon mutation. Biochem Biophys Res Commun (2012) 0.81
Müllerian dysgenesis: a review of recent outcomes at Royal Hospital for Women. Aust N Z J Obstet Gynaecol (2006) 0.81
Screening for calcium channel modulators in CLN3 siRNA knock down SH-SY5Y neuroblastoma cells reveals a significant decrease of intracellular calcium levels by selected L-type calcium channel blockers. Biochim Biophys Acta (2010) 0.81
Measurement of plasma amino acids by Ultraperformance® Liquid Chromatography. Clin Chem Lab Med (2011) 0.81
Amlodipine prevents apoptotic cell death by correction of elevated intracellular calcium in a primary neuronal model of Batten disease (CLN3 disease). Biochem Biophys Res Commun (2013) 0.81
Power doppler ultrasound assessment of the relationship between age and ovarian perifollicular blood flow in women undergoing in vitro fertilization treatment. J Assist Reprod Genet (2006) 0.81
Galactosemia diagnosis gets an upgrade. Clin Chem (2010) 0.80
Salivary gland genetic vaccination: a scalable technology for promoting distal mucosal immunity and heightened systemic immune responses. Vaccine (2004) 0.80
Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency. Muscle Nerve (2002) 0.79
Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies. Mol Genet Metab (2002) 0.79
Effect of L-carnitine supplementation on cardiac carnitine palmitoyltransferase activities and plasma carnitine concentrations in adriamycin-treated rats. Pediatr Res (2003) 0.79
Molecular assay for detection of the common carnitine palmitoyltransferase 1A 1436(C>T) mutation. Clin Chem Lab Med (2006) 0.79
Clinical applications of 3-hydroxy fatty acid analysis by gas chromatography-mass spectrometry. Biochim Biophys Acta (2011) 0.79
Flow injection tandem mass spectrometric measurement of ceramides of multiple chain lengths in biological samples. J Chromatogr B Analyt Technol Biomed Life Sci (2011) 0.79
Zinc enhancement of nonviral salivary gland transfection. Mol Ther (2003) 0.79
Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update. Curr Mol Med (2007) 0.79
Addition of quantitative 3-hydroxy-octadecanoic acid to the stable isotope gas chromatography-mass spectrometry method for measuring 3-hydroxy fatty acids. Clin Chem (2002) 0.79
Do women's perceptions of care at the time of unexplained stillbirth influence their wishes for management in subsequent pregnancy? An Internet-based empirical study. J Obstet Gynaecol Res (2010) 0.79
Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase associates with a protein super-complex integrating multiple metabolic pathways. PLoS One (2012) 0.78
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency. Mol Genet Metab (2006) 0.78
Power Doppler ultrasound assessment of ovarian perifollicular blood flow in women with polycystic ovaries and normal ovaries during in vitro fertilization treatment. Fertil Steril (2005) 0.78
A rapid ultra performance liquid chromatography tandem mass spectrometric method for measuring amino acids associated with maple syrup urine disease, tyrosinaemia and phenylketonuria. Ann Clin Biochem (2007) 0.78
Urinary catheter stent placement for treatment of cervical stenosis. Aust N Z J Obstet Gynaecol (2007) 0.78
Absence of the G1528C (E474Q) mutation in the alpha-subunit of the mitochondrial trifunctional protein in women with acute fatty liver of pregnancy. Pediatr Res (2002) 0.78
Quantitation of methylmalonic acid in serum or plasma using isotope dilution-selected ion gas chromatography-mass spectrometry. Methods Mol Biol (2010) 0.78
Effects of odd-numbered medium-chain fatty acids on the accumulation of long-chain 3-hydroxy-fatty acids in long-chain L-3-hydroxyacyl CoA dehydrogenase and mitochondrial trifunctional protein deficient skin fibroblasts. Mol Genet Metab (2004) 0.77
Cannabinoid receptor antagonist-induced striated muscle toxicity and ethylmalonic-adipic aciduria in beagle dogs. Toxicol Sci (2012) 0.77
Intermediate levels of neuronal palmitoyl-protein Delta-9 desaturase in heterozygotes for murine Batten disease. Mol Genet Metab (2007) 0.77
Medium-chain fatty acids undergo elongation before beta-oxidation in fibroblasts. Biochem Biophys Res Commun (2006) 0.76
Consensus statement: Menstrual and contraceptive management in women with an intellectual disability. Aust N Z J Obstet Gynaecol (2003) 0.76
3-Hydroxy-fatty acid analysis by gas chromatography-mass spectrometry. Methods Mol Biol (2010) 0.76
Women's expectations of management in their next pregnancy after an unexplained stillbirth: an Internet-based empirical study. Aust N Z J Obstet Gynaecol (2009) 0.76
CLN3L, a novel protein related to the Batten disease protein, is overexpressed in Cln3-/- mice and in Batten disease. Brain (2004) 0.76
Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: a unique case of gamma-hydroxybutyric aciduria and Williams syndrome. Am J Med Genet B Neuropsychiatr Genet (2007) 0.75
Carnitine content and expression of mitochondrial beta-oxidation enzymes in placentas of wild-type (OCTN2(+/+)) and OCTN2 Null (OCTN2(-/-)) Mice. Pediatr Res (2004) 0.75
Brown-Vialetto-Van Laere and Fazio Londe syndromes: defects of riboflavin transport with biochemical similarities to multiple acyl-CoA dehydrogenation defects (MADD). J Inherit Metab Dis (2012) 0.75
Untargeted metabolomic analysis hits the target. Clin Chem (2007) 0.75
Quantitation of orotic acid in urine using isotope dilution-selected ion gas chromatography-mass spectrometry. Methods Mol Biol (2010) 0.75
The use of Deconvolution Reporting Software and backflush improves the speed and accuracy of data processing for urinary organic acid analysis. Clin Chim Acta (2009) 0.75
Hydrolethalus syndrome, in contrast to Smith-Lemli-Opitz syndrome, is not due to a defect in post-squalene cholesterol biosynthesis: a case report. Am J Med Genet A (2004) 0.75
Screening for MCAD deficiency in newborns. BMJ (2009) 0.75
Consensus statement: The management of congenital genital tract anomalies in women. Aust N Z J Obstet Gynaecol (2003) 0.75
Basic considerations in the use of coded excitation for color flow imaging applications. IEEE Trans Ultrason Ferroelectr Freq Control (2009) 0.75
Increased C3-carnitine in a healthy premature infant. Clin Chem (2008) 0.75
Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening. Mol Genet Metab (2012) 0.75
Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations. J Pediatr (2002) 0.75
The value of the metabolic autopsy in the pediatric hospital setting. J Pediatr (2006) 0.75
Bile acylcarnitine profiles in pediatric liver disease do not interfere with the diagnosis of long-chain fatty acid oxidation defects. Clin Chim Acta (2006) 0.75
Regional assessment of lung function using thin-plate splines to align structural and functional imaging. Conf Proc IEEE Eng Med Biol Soc (2015) 0.75