Published in Am J Med Genet A on July 01, 2003
Glycogen storage diseases: new perspectives. World J Gastroenterol (2007) 1.67
Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia. Mol Genet Metab (2005) 1.25
Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2. Mol Genet Metab Rep (2015) 0.75
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci U S A (2003) 6.87
A comprehensive view of sex-specific issues related to cardiovascular disease. CMAJ (2007) 2.35
Usefulness of the American Academy of Pediatrics recommendations for identifying youths with hypercholesterolemia. Pediatrics (2004) 2.12
Deficiency of liver adipose triglyceride lipase in mice causes progressive hepatic steatosis. Hepatology (2011) 1.68
Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder. Brain (2004) 1.54
Pathways and control of ketone body metabolism: on the fringe of lipid biochemistry. Prostaglandins Leukot Essent Fatty Acids (2004) 1.51
A treatable new cause of chorea: beta-ketothiolase deficiency. Mov Disord (2013) 1.47
Recurrent pancreatitis in mitochondrial cytopathy. Am J Med Genet A (2006) 1.44
Carboxylesterase 3 (EC 3.1.1.1) is a major adipocyte lipase. J Biol Chem (2004) 1.40
Hormone-sensitive lipase has a role in lipid signaling for insulin secretion but is nonessential for the incretin action of glucagon-like peptide 1. Diabetes (2004) 1.29
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat (2011) 1.28
Vitamin D status is modestly associated with glycemia and indicators of lipid metabolism in French-Canadian children and adolescents. J Nutr (2010) 1.28
Lipolysis and the integrated physiology of lipid energy metabolism. Mol Genet Metab (2008) 1.27
Disorders of mitochondrial function. Curr Opin Pediatr (2008) 1.27
Blood pressure and adiposity in children and adolescents. Circulation (2004) 1.24
Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases. Pediatrics (2007) 1.21
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. Hum Mutat (2014) 1.17
Hormone-sensitive lipase knockout mice have increased hepatic insulin sensitivity and are protected from short-term diet-induced insulin resistance in skeletal muscle and heart. Am J Physiol Endocrinol Metab (2005) 1.17
Adiponectin, adiposity, and insulin resistance in children and adolescents. J Clin Endocrinol Metab (2006) 1.16
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec. Mol Genet Metab (2012) 1.13
Apo A-IV: an update on regulation and physiologic functions. Biochim Biophys Acta (2003) 1.11
Intestinal cholesterol transport proteins: an update and beyond. Curr Opin Lipidol (2007) 1.09
Plasma PCSK9 is associated with age, sex, and multiple metabolic markers in a population-based sample of children and adolescents. Clin Chem (2009) 1.09
Short sleep duration is independently associated with overweight and obesity in Quebec children. Can J Public Health (2011) 1.08
Fasting energy homeostasis in mice with adipose deficiency of desnutrin/adipose triglyceride lipase. Endocrinology (2012) 1.07
Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis. Clin Chem (2007) 1.06
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. Hum Genet (2015) 1.06
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron (2013) 1.06
Distribution of LDL particle size in a population-based sample of children and adolescents and relationship with other cardiovascular risk factors. Clin Chem (2005) 1.06
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. J Med Genet (2010) 1.02
Association between cigarette smoking and C-reactive protein in a representative, population-based sample of adolescents. Nicotine Tob Res (2008) 1.02
Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels. Mol Genet Metab (2013) 1.02
Reference intervals for free thyroxine, total triiodothyronine, thyrotropin and thyroglobulin for Quebec newborns, children and teenagers. Clin Biochem (2004) 1.01
Ability of different adiposity indicators to identify children with elevated blood pressure. J Hypertens (2011) 1.01
The influence of school smoking policies on student tobacco use. Arch Pediatr Adolesc Med (2007) 1.00
LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency. J Med Genet (2011) 0.98
The Québec Child and Adolescent Health and Social Survey: design and methods of a cardiovascular risk factor survey for youth. Can J Cardiol (2003) 0.96
Low vitamin D status in a representative sample of youth from Québec, Canada. Clin Chem (2008) 0.95
Influence of dairy product consumption on children's blood pressure: results from the QUALITY cohort. J Acad Nutr Diet (2013) 0.91
Liver specific inactivation of carboxylesterase 3/triacylglycerol hydrolase decreases blood lipids without causing severe steatosis in mice. Hepatology (2012) 0.91
Associations between children's diets and features of their residential and school neighbourhood food environments. Can J Public Health (2012) 0.90
Hormone-sensitive lipase-independent adipocyte lipolysis during beta-adrenergic stimulation, fasting, and dietary fat loading. Am J Physiol Endocrinol Metab (2004) 0.90
Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type. Prenat Diagn (2009) 0.90
Intestinal fatty acid binding protein regulates mitochondrion beta-oxidation and cholesterol uptake. J Lipid Res (2008) 0.90
Teens and screens: the influence of screen time on adiposity in adolescents. Am J Epidemiol (2010) 0.89
False positives in plasma ammonia measurement and their clinical impact in a pediatric population. Clin Biochem (2007) 0.89
Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency. Eur J Pediatr (2006) 0.88
Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis. Exp Cell Res (2005) 0.88
Positive regulation of insulin signaling by neuraminidase 1. Diabetes (2013) 0.88
Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation. Am J Med Genet A (2007) 0.88
Liver-specific silencing of the human gene encoding succinyl-CoA: 3-ketoacid CoA transferase. Tohoku J Exp Med (2008) 0.86
Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1. Exp Cell Res (2009) 0.86
Expression of human hormone-sensitive lipase (HSL) in postmeiotic germ cells confers normal fertility to HSL-deficient mice. Endocrinology (2004) 0.86
Association between different growth curve definitions of overweight and obesity and cardiometabolic risk in children. CMAJ (2012) 0.86
Household income, food insecurity and nutrition in Canadian youth. Can J Public Health (2012) 0.86
Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy. JIMD Rep (2015) 0.85
Accuracy of oscillometric devices in children and adults. Blood Press (2010) 0.85
How are physical activity, fitness, and sedentary behavior associated with insulin sensitivity in children? Diabetes Care (2012) 0.85
L-Carnitine transport in human placental brush-border membranes is mediated by the sodium-dependent organic cation transporter OCTN2. Am J Physiol Cell Physiol (2004) 0.85
Human hormone-sensitive lipase (HSL): expression in white fat corrects the white adipose phenotype of HSL-deficient mice. J Lipid Res (2005) 0.85
Evaluation of 3-hydroxy-3-methylglutaryl-coenzyme A lyase arginine-41 as a catalytic residue: use of acetyldithio-coenzyme A to monitor product enolization. Biochemistry (2004) 0.83
Alterations in the testis of hormone sensitive lipase-deficient mice is associated with decreased sperm counts, sperm motility, and fertility. Mol Reprod Dev (2008) 0.83
Intestinal fatty acid binding protein and microsomal triglyceride transfer protein polymorphisms in French-Canadian youth. J Lipid Res (2004) 0.83
The stoichiometry of protein phosphorylation in adipocyte lipid droplets: analysis by N-terminal isotope tagging and enzymatic dephosphorylation. Proteomics (2009) 0.83
Mechanical efficiency during a cycling test is not lower in children with excess body weight and low aerobic fitness. Obesity (Silver Spring) (2013) 0.83
Association between lean and fat mass and indicators of bone health in prepubertal caucasian children. Horm Res Paediatr (2013) 0.82
Identification of microsomal triglyceride transfer protein in intestinal brush-border membrane. Exp Cell Res (2004) 0.82
3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white matter changes after treatment. Pediatr Neurol (2007) 0.82
Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure. Mol Genet Metab (2007) 0.82
Inborn errors of cytoplasmic triglyceride metabolism. J Inherit Metab Dis (2014) 0.82
Spinal muscular atrophy: clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers. Clin Biochem (2011) 0.81
Expression and localization of organic cation/carnitine transporter OCTN2 in Caco-2 cells. Am J Physiol Gastrointest Liver Physiol (2003) 0.81
[North American Indian childhood cirrhosis (NAIC)]. Med Sci (Paris) (2007) 0.81
Association between accelerometer-measured physical activity intensities and sedentary time in 8- to 10-year-old children. Pediatr Exerc Sci (2013) 0.81
Poverty's latent effect on adiposity during childhood: evidence from a Québec birth cohort. J Epidemiol Community Health (2013) 0.81
Threshold for toxicity from hyperammonemia in critically ill children. J Hepatol (2011) 0.81
A heterozygote phenotype is present in the jvs +/- mutant mouse livers. Mol Genet Metab (2002) 0.81
The CANadian Pediatric Weight management Registry (CANPWR): study protocol. BMC Pediatr (2014) 0.81
Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I. Mol Genet Metab (2006) 0.81
A prognostic tool to identify adolescents at high risk of becoming daily smokers. BMC Pediatr (2011) 0.81
The catalytic function of hormone-sensitive lipase is essential for fertility in male mice. Endocrinology (2014) 0.80
Metabolic syndrome and gingival inflammation in Caucasian children with a family history of obesity. J Clin Periodontol (2013) 0.80
Vigorous physical activity and low-grade systemic inflammation in adolescent boys and girls. Int J Pediatr Obes (2010) 0.80
Duration of extracorporeal therapy in acute maple syrup urine disease: a kinetic model. Pediatr Nephrol (2006) 0.80
Treatment of cobalamin C (cblC) deficiency during pregnancy. J Inherit Metab Dis (2010) 0.80
Area-level social fragmentation and walking for exercise: cross-sectional findings from the Quebec Adipose and Lifestyle Investigation in Youth Study. Am J Public Health (2012) 0.80
Tracking exposure to child poverty during the first 10 years of life in a Quebec birth cohort. Can J Public Health (2012) 0.80
Measurement fidelity of heart rate variability signal processing: the devil is in the details. Int J Psychophysiol (2012) 0.79
Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome. J Child Neurol (2010) 0.79
Adiposity and gingival crevicular fluid tumour necrosis factor-alpha levels in children. J Clin Periodontol (2009) 0.79