Published in J Inherit Metab Dis on September 04, 2010
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet J Rare Dis (2013) 1.16
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Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nat Genet (2000) 1.58
Quantitative determination of plasma c8-c26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders. Mol Genet Metab (2001) 1.56
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. Am J Hum Genet (2006) 1.21
Phytanic acid: production from phytol, its breakdown and role in human disease. Cell Mol Life Sci (2006) 1.15
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A new defect of peroxisomal function involving pristanic acid: a case report. J Neurol Neurosurg Psychiatry (2002) 1.00
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Further insights into peroxisomal lipid breakdown via alpha- and beta-oxidation. Biochem Soc Trans (2001) 0.84
Investigating mitochondrial redox potential with redox-sensitive green fluorescent protein indicators. J Biol Chem (2004) 5.26
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med (2011) 3.21
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab (2009) 2.25
Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots. Clin Chem (2008) 2.03
Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice. PLoS Genet (2005) 2.03
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Curr Mol Med (2002) 1.96
Fatty acid oxidation disorders. Annu Rev Physiol (2002) 1.96
Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry. Clin Chem (2010) 1.94
Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clin Chem (2003) 1.92
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab (2004) 1.91
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Hum Mol Genet (2011) 1.70
Mice heterozygous for a defect in mitochondrial trifunctional protein develop hepatic steatosis and insulin resistance. Gastroenterology (2005) 1.69
Treatment of warfarin-associated intracerebral hemorrhage: literature review and expert opinion. Mayo Clin Proc (2007) 1.66
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science (2012) 1.65
Validation of frontal near-infrared spectroscopy as noninvasive bedside monitoring for regional cerebral blood flow in brain-injured patients. Neurosurg Focus (2012) 1.62
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. Glycobiology (2005) 1.56
Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology. Int J Dermatol (2013) 1.53
The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. J Biol Chem (2003) 1.48
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet (2011) 1.48
Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. Mol Genet Metab (2009) 1.44
Expanded newborn screening identifies maternal primary carnitine deficiency. Mol Genet Metab (2006) 1.44
Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med (2012) 1.44
Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab (2011) 1.41
High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood. Clin Chem (2013) 1.39
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet (2004) 1.38
Neurologic considerations in propionic acidemia. Mol Genet Metab (2011) 1.34
Acylcarnitine profile analysis. Genet Med (2008) 1.33
Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation. Mol Genet Metab (2005) 1.33
Acute management of propionic acidemia. Mol Genet Metab (2011) 1.30
Efflux of drugs and solutes from brain: the interactive roles of diffusional transcapillary transport, bulk flow and capillary transporters. J Cereb Blood Flow Metab (2006) 1.27
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting. J Inherit Metab Dis (2010) 1.26
Natural history of propionic acidemia. Mol Genet Metab (2011) 1.24
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab (2007) 1.23
Disease-causing mitochondrial heteroplasmy segregated within induced pluripotent stem cell clones derived from a patient with MELAS. Stem Cells (2013) 1.22
The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots. Mol Genet Metab (2003) 1.21
Emerging subspecialties in neurology: neurohospitalist. Neurology (2010) 1.20
Survey of neurohospitalists: subspecialty definition and practice characteristics. Front Neurol (2010) 1.17
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Hum Genet (2008) 1.16
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Mol Genet Metab (2003) 1.16
Treatment of four psychiatric emergencies in the ICU. Crit Care Med (2013) 1.14
Outcomes of intravenous tissue plasminogen activator for acute ischemic stroke in patients aged 90 years or older. Mayo Clin Proc (2009) 1.12
Leflunomide-associated progressive multifocal leukoencephalopathy. Arch Neurol (2008) 1.09
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. Mol Genet Metab (2010) 1.09
Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management. Pediatr Res (2005) 1.06
Physiotherapy in patients in the ICU treated with IV tissue plasminogen activator for stroke. Chest (2014) 1.06
Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings. Mol Genet Metab (2006) 1.05
Effect of a neurohospitalist service on outcomes at an academic medical center. Neurology (2012) 1.02
Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease. J Inherit Metab Dis (2015) 1.01
Substrate oxidation and cardiac performance during exercise in disorders of long chain fatty acid oxidation. Mol Genet Metab (2011) 0.99
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. Mol Genet Metab (2007) 0.99
Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-deficient jvs (OCTN2(-/-)) mice. Mol Genet Metab (2007) 0.98
Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD). Clin Chem (2008) 0.97
Acylcarnitine analysis by tandem mass spectrometry. Curr Protoc Hum Genet (2010) 0.96
'ICU vampirism' - time for judicious blood draws in critically ill patients. Br J Haematol (2013) 0.96
Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry. J Pediatr (2010) 0.93
Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx. Mol Genet Metab (2011) 0.93
Design and analytical validation of clinical DNA sequencing assays. Arch Pathol Lab Med (2012) 0.92
Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease. Mol Genet Metab (2006) 0.92
Making the case for objective performance metrics in newborn screening by tandem mass spectrometry. Ment Retard Dev Disabil Res Rev (2006) 0.92
Composition of protein supplements used for human embryo culture. J Assist Reprod Genet (2014) 0.91
A replicating module as the unit of mitochondrial structure and functioning. Biochim Biophys Acta (2002) 0.91
Systemic correction of a fatty acid oxidation defect by intramuscular injection of a recombinant adeno-associated virus vector. Hum Gene Ther (2006) 0.90
Thiamine deficiency in Cambodian infants with and without beriberi. J Pediatr (2012) 0.90
Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts. Clin Chem (2005) 0.89
Methylene blue-associated serotonin syndrome: a 'green' encephalopathy after parathyroidectomy. Neurocrit Care (2009) 0.89
A prospective trial of elective extubation in brain injured patients meeting extubation criteria for ventilatory support: a feasibility study. Crit Care (2008) 0.89
Safety of recombinant activated factor VII in patients with warfarin-associated hemorrhages of the central nervous system. Stroke (2010) 0.89
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med (2007) 0.87
Intraarterial treatment for acute ischemic stroke. N Engl J Med (2015) 0.87
Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. Am J Med Genet A (2004) 0.87
Recent developments and new applications of tandem mass spectrometry in newborn screening. Curr Opin Pediatr (2004) 0.86
UGT1A1 sequence variants and bilirubin levels in early postnatal life: a quantitative approach. BMC Med Genet (2011) 0.86
Clopidogrel Resistance by P2Y12 Platelet Function Testing in Patients Undergoing Neuroendovascular Procedures: Incidence of Ischemic and Hemorrhagic Complications. J Vasc Interv Neurol (2013) 0.86
Biochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCAD. Hum Gene Ther (2008) 0.86
Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening. Pediatrics (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
Blood transfusion is an important predictor of hospital mortality among patients with aneurysmal subarachnoid hemorrhage. Neurocrit Care (2013) 0.85
Safety and efficacy of levetiracetam for critically ill patients with seizures. Neurocrit Care (2009) 0.84
Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant. Mol Genet Metab (2011) 0.84