Published in J Inherit Metab Dis on January 01, 2005
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet J Rare Dis (2012) 0.94
The consequences of extended newborn screening programmes: do we know who needs treatment? J Inherit Metab Dis (2008) 0.91
3-Methylcrotonylglycine disrupts mitochondrial energy homeostasis and inhibits synaptic Na(+),K (+)-ATPase activity in brain of young rats. Cell Mol Neurobiol (2011) 0.78
Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency? JIMD Rep (2015) 0.75
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. Genet Med (2014) 0.75
Systems biology analysis reveals role of MDM2 in diabetic nephropathy. JCI Insight (2016) 0.75
Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test. Korean J Pediatr (2014) 0.75
Neurochemical evidence that the metabolites accumulating in 3-methylcrotonyl-CoA carboxylase deficiency induce oxidative damage in cerebral cortex of young rats. Cell Mol Neurobiol (2012) 0.75
Mammalian TOR: a homeostatic ATP sensor. Science (2001) 6.41
Hyperhomocysteinemia: an independent risk factor for vascular disease. N Engl J Med (1991) 6.03
Arsenic: health effects, mechanisms of actions, and research issues. Environ Health Perspect (1999) 3.07
Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease. N Engl J Med (1985) 2.49
Coexistence of hereditary homocystinuria and factor V Leiden--effect on thrombosis. N Engl J Med (1996) 2.38
Complete sequence of the human tissue factor gene, a highly regulated cellular receptor that initiates the coagulation protease cascade. Biochemistry (1989) 2.29
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis (2006) 1.98
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics (1997) 1.86
Quality of life following radiofrequency ablation of dysplastic Barrett's esophagus. Endoscopy (2010) 1.75
Intestinal adaptation following massive small bowel resection in the mouse. J Am Coll Surg (1996) 1.71
Exercise for intermittent claudication. Cochrane Database Syst Rev (2000) 1.66
Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis (2009) 1.58
Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro. Pediatr Res (1997) 1.53
Breast milk beta-glucuronidase and prolonged jaundice in the neonate. Acta Paediatr (1995) 1.42
Respiratory distress syndrome. J Am Acad Audiol (1994) 1.40
Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts. J Clin Invest (1978) 1.35
Causes of and diagnostic approach to methylmalonic acidurias. J Inherit Metab Dis (2008) 1.34
Purification and properties of cystathionine beta-synthase from human liver. Evidence for identical subunits. J Biol Chem (1978) 1.30
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J Inherit Metab Dis (2009) 1.30
The Perception of Teasing Scale (POTS): a revision and extension of the Physical Appearance Related Teasing Scale (PARTS). J Pers Assess (1995) 1.28
Detection of heterozygotes for homocystinuria. Study of sulphur-containing amino acids in plasma and urine after L-methionine loading. Arch Dis Child (1974) 1.21
Mechanical properties of abdominal aortic aneurysm wall. J Med Eng Technol (2001) 1.20
In vivo bone formation by human bone marrow stromal cells: effect of carrier particle size and shape. Biotechnol Bioeng (2001) 1.20
Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2. J Inherit Metab Dis (2003) 1.17
Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts. Hum Genet (1985) 1.17
A prospective community survey for aminoacidaemias. Proc R Soc Med (1968) 1.16
Prostaglandin E2 inhibits renal collecting duct Na+ absorption by activating the EP1 receptor. J Clin Invest (1998) 1.16
Defects in human methionine synthase in cblG patients. Hum Mol Genet (1996) 1.15
Rewarming preterm infants on a heated, water filled mattress. Arch Dis Child (1989) 1.13
The relationship between psychological factors and sports injuries. Sports Med (1988) 1.07
Mothers' perceptions of their preterm infants treated in an incubator or on a heated water-filled mattress: a pilot study. Acta Paediatr (1993) 1.07
RE: Spontaneous abortion in the British semiconductor industry. Am J Ind Med (1999) 1.06
Congenital absence of insulin cells in a neonate with diabetes mellitus and mutase-deficient methylmalonic acidaemia. Diabetologia (1993) 1.05
Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis (2011) 1.05
A silver coated dressing reduces the incidence of early burn wound cellulitis and associated costs of inpatient treatment: comparative patient care audits. Burns (2005) 1.04
NEEDLY, a Pinus radiata ortholog of FLORICAULA/LEAFY genes, expressed in both reproductive and vegetative meristems. Proc Natl Acad Sci U S A (1998) 1.03
Lead in bone: storage site, exposure source, and target organ. Neurotoxicology (1994) 1.02
Reduced folate transport to the CNS in female Rett patients. Neurology (2003) 1.00
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy. Eur J Pediatr (1998) 0.98
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. Hum Genet (1998) 0.97
Voice abnormalities and their relation with motor dysfunction in Parkinson's disease. Acta Neurol Scand (2007) 0.96
Metabolism of cadmium, zinc and copper in the rat kidney: the role of metallothionein and other binding sites. Environ Health Perspect (1984) 0.96
Nigral endothelial dysfunction, homocysteine, and Parkinson's disease. Lancet (1999) 0.95
The semiconductor elements arsenic and indium induce apoptosis in rat thymocytes. Toxicology (1997) 0.94
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J Inherit Metab Dis (2009) 0.94
Evidence for disturbed S-adenosylmethionine : S-adenosylhomocysteine ratio in patients with end-stage renal failure: a cause for disturbed methylation reactions? Nephrol Dial Transplant (1998) 0.94
Serum apolipoprotein B predicts dyslipidemia, metabolic syndrome and, in women, hypertension and diabetes, independent of markers of central obesity and inflammation. Int J Obes (Lond) (2007) 0.94
Mucinous adenocarcinoma arising from the gastrointestinal epithelium in benign cystic teratoma of the ovary--case report. Eur J Gynaecol Oncol (2006) 0.94
The prevalence of fibromyalgia in women aged 20-64 in Turkey. Scand J Rheumatol (2005) 0.93
Mutation analysis in 54 propionic acidemia patients. J Inherit Metab Dis (2011) 0.93
Low whole-blood S-adenosylmethionine and correlation between 5-methyltetrahydrofolate and homocysteine in coronary artery disease. Arterioscler Thromb Vasc Biol (1996) 0.93
Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis. Mol Genet Metab (2012) 0.93
A patient with severe type of epimerase deficiency galactosaemia. J Inherit Metab Dis (1988) 0.92
Ocular and periorbital anthropometry in the newborn. Hum Biol (1988) 0.92
Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level. Hum Mol Genet (1995) 0.91
Stomach cancer history in the siblings of patients with gastric carcinoma. Eur J Cancer Prev (2000) 0.90
Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases. J Inherit Metab Dis (2005) 0.90
Clinical use and rational management of homocysteine, folic acid, and B vitamins in cardiovascular and thrombotic diseases. Z Kardiol (2004) 0.90
Prevalence of diabetes, obesity and hypertension in a Turkish population (Trabzon city). Diabetes Res Clin Pract (2001) 0.89
Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant. Pediatr Diabetes (2011) 0.89
Methylenetetrahydrofolate reductase polymorphism, plasma homocysteine and age. Eur J Clin Invest (1999) 0.89
Incidence of biotinidase deficiency in Turkish newborns. Acta Paediatr (1998) 0.89
Folate and the risk of colorectal, breast and cervix cancer: the epidemiological evidence. Swiss Med Wkly (2001) 0.88
Pressure traps in femoro-popliteal reversed vein grafts. Are valves culprits? J Cardiovasc Surg (Torino) (1999) 0.88
Gastric cancer and other organ cancer history in the parents of patients with gastric cancer. Eur J Cancer Prev (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
The Manchester regional screening programme: a 10-year exercise in patient and family care. Br Med J (1979) 0.88
Pap smear screening among urban Southwestern American Indian women. Prev Med (1999) 0.87
Risk factors for dental caries in Turkish preschool children. J Indian Soc Pedod Prev Dent (2005) 0.87
Influence of oral S-adenosylmethionine on plasma 5-methyltetrahydrofolate, S-adenosylhomocysteine, homocysteine and methionine in healthy humans. J Pharmacol Exp Ther (1997) 0.87
Effect of methionine loading on 5-methyltetrahydrofolate, S-adenosylmethionine and S-adenosylhomocysteine in plasma of healthy humans. Clin Sci (Lond) (1996) 0.87
Prevalence of primary Sjogren's syndrome in Turkey: a population-based epidemiological study. Int J Clin Pract (2009) 0.87
Disturbed ratio of erythrocyte and plasma S-adenosylmethionine/S-adenosylhomocysteine in peripheral arterial occlusive disease. Atherosclerosis (2001) 0.86
Serum apolipoprotein C-III in high-density lipoprotein: a key diabetogenic risk factor in Turks. Diabet Med (2009) 0.86
Seventeen novel mutations that cause profound biotinidase deficiency. Mol Genet Metab (2002) 0.86
Methods for the quantitative analysis of sulphur-containing compounds in physiological fluids. J Chromatogr (1972) 0.86
The influence of sizing on the dynamic function of the free-hand implanted porcine aortic homograft: an in vitro study. J Heart Valve Dis (1999) 0.86
The impact of C4d staining as a humoral injury marker. Transplant Proc (2012) 0.86
Novel mutations cause biotinidase deficiency in Turkish children. J Inherit Metab Dis (2000) 0.86
Molecular epidemiology and the clinical significance of Acinetobacter baumannii complex isolated from cerebrospinal fluid in neurosurgical intensive care unit patients. Infection (2011) 0.86
Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases. J Inherit Metab Dis (2005) 0.85
The paradox of high apolipoprotein A-I levels independently predicting incident type-2 diabetes among Turks. Int J Cardiol (2009) 0.85
Decrease of methionine and S-adenosylmethionine and increase of homocysteine in treated patients with Parkinson's disease. Neurosci Lett (2001) 0.85
3-OMD and homocysteine plasma levels in parkinsonian patients. J Neural Transm (Vienna) (2002) 0.84
Effects of inert gas narcosis on behavior--a critical review. Undersea Biomed Res (1985) 0.84
CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene. J Inherit Metab Dis (2003) 0.84
Relation of serum leptin and insulin-like growth factor-1 levels to intima-media thickness and functions of common carotid artery in children and adolescents with type 1 diabetes. Acta Paediatr (2004) 0.84
Human sensorimotor coordination during spaceflight: an analysis of pointing and tracking responses during the "Neurolab" Space Shuttle mission. Aviat Space Environ Med (2001) 0.83
Discriminating the effects of triazolam on stimulus and response processing by means of reaction time and P300 latency. Psychopharmacology (Berl) (1994) 0.83
Neurological deterioration in patients with urea cycle disorders under valproate therapy--a cause for concern. Eur J Pediatr (1995) 0.83
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data. J Inherit Metab Dis (2014) 0.83
Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency. J Inherit Metab Dis (2006) 0.82
Cancer prevention among urban southwestern American Indian women: comparison to selected Year 2000 national health objectives. Ann Epidemiol (1999) 0.82
Burn first aid in Western Australia--do healthcare workers have the knowledge? Burns (2005) 0.82
Information, attitude, and behavior toward organ transplantation and donation among health workers in the eastern Black Sea region of Turkey. Transplant Proc (2011) 0.82
Clinicopathologic and prognostic evaluation of invasive breast carcinoma molecular subtypes and GATA3 expression. J BUON (2011) 0.82
Methionine synthase deficiency without megaloblastic anaemia. Eur J Pediatr (1997) 0.82
Dental health status and risk factors for dental caries in adults in Istanbul, Turkey. East Mediterr Health J (2008) 0.81