Published in J Pediatr Gastroenterol Nutr on February 01, 2017
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics (2003) 3.24
Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr (2002) 2.21
Glycogen storage disease type III diagnosis and management guidelines. Genet Med (2010) 2.13
Glycogen storage diseases. Rev Endocr Metab Disord (2003) 1.90
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. Am J Med Genet A (2004) 1.59
Urinary hepcidin in congenital chronic anemias. Pediatr Blood Cancer (2007) 1.58
Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up. Ann Neurol (2004) 1.58
Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr (2002) 1.54
Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib. Blood (2014) 1.52
In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases. J Inherit Metab Dis (2014) 1.44
Impaired intestinal iron absorption in Crohn's disease correlates with disease activity and markers of inflammation. Inflamm Bowel Dis (2006) 1.43
Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a. Pediatr Res (2008) 1.28
Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency: the homogeneous population of The Netherlands. J Pediatr (2007) 1.27
Natural history of hepatocellular adenoma formation in glycogen storage disease type I. J Pediatr (2011) 1.20
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene. J Med Genet (2012) 1.17
The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. J Pediatr (2006) 1.17
Acute hepatic steatosis in mice by blocking beta-oxidation does not reduce insulin sensitivity of very-low-density lipoprotein production. Am J Physiol Gastrointest Liver Physiol (2005) 1.15
BDNF protects against stress-induced impairments in spatial learning and memory and LTP. Hippocampus (2005) 1.12
2002 E. Mead Johnson Award for Research in Pediatrics Lecture: the molecular biology of the anemia of chronic disease: a hypothesis. Pediatr Res (2003) 1.08
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med (2014) 1.08
Liver transplantation in children with glycogen storage disease: controversies and evaluation of the risk/benefit of this procedure. Pediatr Transplant (2008) 1.07
Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b). Blood (2003) 1.06
Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. J Hepatol (2012) 1.05
Disturbed hepatic carbohydrate management during high metabolic demand in medium-chain acyl-CoA dehydrogenase (MCAD)-deficient mice. Hepatology (2008) 1.04
Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1. Eur J Pediatr (2002) 1.02
Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib. Am J Clin Nutr (2008) 1.02
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1. Eur J Pediatr (2002) 1.02
Heart Failure Due to Severe Hypertrophic Cardiomyopathy Reversed by Low Calorie, High Protein Dietary Adjustments in a Glycogen Storage Disease Type IIIa Patient. JIMD Rep (2011) 0.98
Is glycogen storage disease 1a associated with atherosclerosis? Eur J Pediatr (2002) 0.98
Aggressive therapy improves cirrhosis in glycogen storage disease type IX. Mol Genet Metab (2013) 0.96
Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease. Hum Mol Genet (2009) 0.95
Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations. J Pediatr (2002) 0.94
Renal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition. Clin J Am Soc Nephrol (2009) 0.93
Necrotic foci, elevated chemokines and infiltrating neutrophils in the liver of glycogen storage disease type Ia. J Hepatol (2007) 0.92
Disturbed lipid metabolism in glycogen storage disease type 1. Eur J Pediatr (2002) 0.92
The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study. Eur J Hum Genet (2005) 0.91
Increased scavenger receptor class B type I-mediated cellular cholesterol efflux and antioxidant capacity in the sera of glycogen storage disease type Ia patients. Mol Genet Metab (2006) 0.91
Neutrophilia and elevated serum cytokines are implicated in glycogen storage disease type Ia. FEBS Lett (2007) 0.90
Mutations in RARS cause hypomyelination. Ann Neurol (2014) 0.90
Bone mineral density in glycogen storage disease type Ia and Ib. Genet Med (2012) 0.88
Benefits, motivations, and barriers related to environmental volunteerism for older adults: developing a research agenda. Int J Aging Hum Dev (2011) 0.86
A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing. Hum Mutat (2013) 0.86
Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers. J Gastroenterol (2013) 0.86
Pregnancies in glycogen storage disease type Ia. Am J Obstet Gynecol (2008) 0.86
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. Orphanet J Rare Dis (2012) 0.85
Dietary management in glycogen storage disease type III: what is the evidence? J Inherit Metab Dis (2014) 0.84
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented? JIMD Rep (2014) 0.83
Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children. J Inherit Metab Dis (2014) 0.83
Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I. JIMD Rep (2014) 0.83
Safe and unsafe duration of fasting for children with MCAD deficiency. Eur J Pediatr (2006) 0.83
MPV17: fatal hepatocerebral presentation in a Brazilian infant. Mol Genet Metab (2012) 0.83
Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene. JIMD Rep (2012) 0.82
Inhibition of mitochondrial fatty acid oxidation in vivo only slightly suppresses gluconeogenesis but enhances clearance of glucose in mice. Hepatology (2008) 0.82
A detailed characterization of the adult mouse model of glycogen storage disease Ia. Lab Invest (2009) 0.82
Antibodies to CBir1 are associated with glycogen storage disease type Ib. J Pediatr Gastroenterol Nutr (2010) 0.81
In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes. Orphanet J Rare Dis (2013) 0.80
Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patients. J Inherit Metab Dis (2011) 0.80
Glycogen storage disease type IIIa presenting as non-ketotic hypoglycemia: use of a newly approved commercially available mutation analysis to non-invasively confirm the diagnosis. J Pediatr Endocrinol Metab (2008) 0.80
Vascular dysfunction in glycogen storage disease type I. J Pediatr (2008) 0.79
Increased lipogenesis and resistance of lipoproteins to oxidative modification in two patients with glycogen storage disease type 1a. J Pediatr (2002) 0.79
Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey. J Inherit Metab Dis (2014) 0.79
Glycogen storage disease type Ia: linkage of glucose, glycogen, lactic acid, triglyceride, and uric acid metabolism. J Clin Lipidol (2012) 0.78
Single amino acid supplementation in aminoacidopathies: a systematic review. Orphanet J Rare Dis (2014) 0.77
Dietary treatment of glycogen storage disease type Ia: uncooked cornstarch and/or continuous nocturnal gastric drip-feeding? Mol Genet Metab (2013) 0.77
Glycogen storage disease type Ia in canines: a model for human metabolic and genetic liver disease. J Biomed Biotechnol (2011) 0.77
Hypoglycemia in Prader-Willi syndrome. Am J Med Genet A (2014) 0.77
Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis (2014) 0.77
Acoustic accessibility investigation for ultrasound mediated treatment of glycogen storage disease type Ia patients. Ultrasound Med Biol (2011) 0.77
Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib. Genet Med (2012) 0.77
Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes. Neonatology (2016) 0.77
Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries. J Inherit Metab Dis (2010) 0.76
Determination of amylose/amylopectin ratio of starches. J Inherit Metab Dis (2015) 0.75
Does increased fatty acid oxidation enhance development of liver cirrhosis and progression to hepatocellular carcinoma in patients with glycogen storage disease type-III? J Hepatol (2007) 0.75
Disordered Eating and Body Esteem Among Individuals with Glycogen Storage Disease. JIMD Rep (2015) 0.75
Erratum to: In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases. J Inherit Metab Dis (2015) 0.75
Assessment of ozone effects on nitrate export from Hubbard Brook Watershed 6. Environ Pollut (2005) 0.75
Pregnancy in women with glycogen storage disease Ia and Ib. J Perinat Neonatal Nurs (2014) 0.75
Perioperative management of patients with glycogen storage disease type Ia. Plast Reconstr Surg (2008) 0.75