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Glycogen storage disease type III-hepatocellular carcinoma a long-term complication? J Hepatol (2006) 1.62

Prevention of hepatocellular adenoma and correction of metabolic abnormalities in murine glycogen storage disease type Ia by gene therapy. Hepatology (2012) 1.59

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

Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy. Nat Rev Endocrinol (2010) 1.32

Complete normalization of hepatic G6PC deficiency in murine glycogen storage disease type Ia using gene therapy. Mol Ther (2010) 1.21

Natural history of hepatocellular adenoma formation in glycogen storage disease type I. J Pediatr (2011) 1.20

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. Eur J Pediatr (2005) 1.13

Glucose-6-phosphatase deficiency. Orphanet J Rare Dis (2011) 1.12

Gene therapy for type I glycogen storage diseases. Curr Gene Ther (2007) 1.07

A novel starch for the treatment of glycogen storage diseases. J Inherit Metab Dis (2007) 1.05

Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease. Hum Mutat (2008) 1.03

Clinical evaluation of a portable lactate meter in type I glycogen storage disease. J Inherit Metab Dis (2005) 0.99

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. Eur J Hum Genet (2010) 0.96

Dietary dilemmas in the management of glycogen storage disease type I. J Inherit Metab Dis (2011) 0.95

Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia. J Inherit Metab Dis (2005) 0.95

Angiotensin mediates renal fibrosis in the nephropathy of glycogen storage disease type Ia. Kidney Int (2007) 0.94

Key issues in the modes of action and effects of trichloroethylene metabolites for liver and kidney tumorigenesis. Environ Health Perspect (2006) 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

Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Am J Hum Genet (2011) 0.91

Bone mineral density in children, adolescents and adults with glycogen storage disease type Ia: a cross-sectional and longitudinal study. J Inherit Metab Dis (2003) 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

Recombinant AAV-directed gene therapy for type I glycogen storage diseases. Expert Opin Biol Ther (2011) 0.85

Glycogen Storage Disease type 1a - a secondary cause for hyperlipidemia: report of five cases. J Diabetes Metab Disord (2013) 0.85

Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I. JIMD Rep (2014) 0.83

Suppression of gluconeogenic gene expression by LSD1-mediated histone demethylation. PLoS One (2013) 0.82

A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: a randomized double-blind cross-over study. Orphanet J Rare Dis (2015) 0.82

Normoglycemia alone is insufficient to prevent long-term complications of hepatocellular adenoma in glycogen storage disease type Ib mice. J Hepatol (2009) 0.82

Improvements of hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by medium-chain triglyceride milk. Eur J Pediatr (2007) 0.82

Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study. J Inherit Metab Dis (2012) 0.81

Does type I truly dominate hepatic glycogen storage diseases in Korea?: a single center study. Pediatr Gastroenterol Hepatol Nutr (2014) 0.81

Advanced glycation end products and the absence of premature atherosclerosis in glycogen storage disease Ia. J Inherit Metab Dis (2007) 0.81

Successful treatment of multiple hepatocellular adenomas with percutaneous radiofrequency ablation. World J Gastroenterol (2013) 0.80

Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patients. J Inherit Metab Dis (2011) 0.80

Quality of life in adult patients with glycogen storage disease type I: results of a multicenter italian study. JIMD Rep (2013) 0.80

Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions. J Inherit Metab Dis (2015) 0.80

The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia. Mol Genet Metab (2013) 0.80

Investigation and management of the hepatic glycogen storage diseases. Transl Pediatr (2015) 0.79

Hepatocellular carcinoma and focal nodular hyperplasia of the liver in a glycogen storage disease patient. World J Hepatol (2012) 0.78

Liver transplantation in glycogen storage disease type I. Orphanet J Rare Dis (2014) 0.78

Perioperative management of hemostasis for surgery of benign hepatic adenomas in patients with glycogen storage disease type ia. JIMD Rep (2011) 0.78

Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes. J Inherit Metab Dis (2014) 0.77

Glycogen storage disease type Ia in canines: a model for human metabolic and genetic liver disease. J Biomed Biotechnol (2011) 0.77

Oxidative stress mediates nephropathy in type Ia glycogen storage disease. Lab Invest (2010) 0.77

Minimal hepatic glucose-6-phosphatase-α activity required to sustain survival and prevent hepatocellular adenoma formation in murine glycogen storage disease type Ia. Mol Genet Metab Rep (2015) 0.77

Pathogenesis of growth failure and partial reversal with gene therapy in murine and canine Glycogen Storage Disease type Ia. Mol Genet Metab (2013) 0.77

Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib. Genet Med (2012) 0.77

Gastric cancer following a liver transplantation for glycogen storage disease type Ia (von Gierke disease): A case report. Oncol Lett (2014) 0.76

In vivo hepatic lipid quantification using MRS at 7 Tesla in a mouse model of glycogen storage disease type 1a. J Lipid Res (2013) 0.76

Liver transplantation for pediatric inherited metabolic disorders: Considerations for indications, complications, and perioperative management. Pediatr Transplant (2016) 0.75

Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b. Pediatr Gastroenterol Hepatol Nutr (2016) 0.75

Treatment strategies for acute metabolic disorders in neonates. Sudan J Paediatr (2011) 0.75

Disordered Eating and Body Esteem Among Individuals with Glycogen Storage Disease. JIMD Rep (2015) 0.75

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. J Inherit Metab Dis (2016) 0.75

Development of hepatocellular adenomas and carcinomas in mice with liver-specific G6Pase-α deficiency. Dis Model Mech (2014) 0.75

Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder. Case Rep Med (2016) 0.75

Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation. Orphanet J Rare Dis (2015) 0.75

Liver tumors in children with metabolic disorders. Transl Pediatr (2015) 0.75

Glycogen storage disease type Ia mice with less than 2% of normal hepatic glucose-6-phosphatase-α activity restored are at risk of developing hepatic tumors. Mol Genet Metab (2017) 0.75

Total oxidant-scavenging capacities of plasma from glycogen storage disease type Ia patients as measured by cyclic voltammetry, FRAP and luminescence techniques. J Inherit Metab Dis (2009) 0.75

Current Proceedings in the Molecular Dissection of Hepatocellular Adenomas: Review and Hands-on Guide for Diagnosis. Int J Mol Sci (2015) 0.75

High Incidence of Serologic Markers of Inflammatory Bowel Disease in Asymptomatic Patients with Glycogen Storage Disease Type Ia. JIMD Rep (2015) 0.75

Dietary Therapy for Von Gierke's Disease: A Case Report. Cureus (2017) 0.75

Sustained high plasma mannose less sensitive to fluctuating blood glucose in glycogen storage disease type Ia children. J Inherit Metab Dis (2012) 0.75

Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type Ib. J Inherit Metab Dis (2010) 0.75

Urolithiasis and psoas abscess in a 2-year-old boy with type 1 glycogen storage disease. Pediatr Nephrol (2006) 0.75

A lethal defect of mitochondrial and peroxisomal fission. N Engl J Med (2007) 5.27

Monocarboxylate transporter 1 deficiency and ketone utilization. N Engl J Med (2014) 3.36

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics (2003) 3.24

Yield of additional metabolic studies in neurodevelopmental disorders. Ann Neurol (2008) 2.90

Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res (2006) 2.31

Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis (2011) 2.14

Glycogen storage disease type III diagnosis and management guidelines. Genet Med (2010) 2.13

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis (2010) 1.68

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

Lentiviral vectors that express UGT1A1 in liver and contain miR-142 target sequences normalize hyperbilirubinemia in Gunn rats. Gastroenterology (2010) 1.48

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nat Genet (2004) 1.45

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

Recommendations for the management of tyrosinaemia type 1. Orphanet J Rare Dis (2013) 1.40

Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations. Eur J Pediatr (2002) 1.39

Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency. Hum Mol Genet (2004) 1.37

Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). Pediatrics (2007) 1.31

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

Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet. Pediatr Res (2011) 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

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. Hum Genet (2001) 1.26

GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation. J Hepatol (2011) 1.25

Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. Am J Med Genet (2002) 1.18

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

Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA. Pediatr Res (2004) 1.16

Glucose-6-phosphatase deficiency. Orphanet J Rare Dis (2011) 1.12

D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD). Lancet (2003) 1.10

Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. Hum Mutat (2009) 1.07

Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b). Blood (2003) 1.06

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Hum Mutat (2011) 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

Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease. Mol Med (2011) 1.04

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. Orphanet J Rare Dis (2013) 1.03

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

Severe pulmonary arterial hypertension in type 1 glycogen storage disease. Eur J Pediatr (2002) 1.01

Differences between acylcarnitine profiles in plasma and bloodspots. Mol Genet Metab (2013) 0.99

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. J Inherit Metab Dis (2014) 0.99

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

Plasma antioxidants in pediatric patients with glycogen storage disease, diabetes mellitus, and hypercholesterolemia. Free Radic Biol Med (2002) 0.98

Reduced cerebral fluoro-L-dopamine uptake in adult patients suffering from phenylketonuria. J Cereb Blood Flow Metab (2007) 0.97

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet (2014) 0.96

MRI abnormalities in normal-appearing brain tissue of treated adult PKU patients. J Magn Reson Imaging (2008) 0.96

Brain imaging and proton magnetic resonance spectroscopy in patients with phenylketonuria. Pediatrics (2003) 0.95

Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype. Am J Med Genet A (2005) 0.95

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. Hum Mutat (2009) 0.93

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4. Eur J Hum Genet (2012) 0.93

Renal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition. Clin J Am Soc Nephrol (2009) 0.93

Disturbed lipid metabolism in glycogen storage disease type 1. Eur J Pediatr (2002) 0.92

Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells. J Biol Chem (2011) 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

Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency. Hum Genet (2004) 0.91

Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage. J Inherit Metab Dis (2010) 0.91

Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases. JIMD Rep (2013) 0.91

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). Hum Mol Genet (2008) 0.91

Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment. J Inherit Metab Dis (2014) 0.89

Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II. Mol Genet Metab (2006) 0.88

A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site. Hum Mutat (2004) 0.87

Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies. Mol Genet Metab (2011) 0.87

Is a polymorphism of the apolipoprotein E gene associated with preeclampsia? Hypertens Pregnancy (2002) 0.87

The regulation of growth in glycogen storage disease type 1. Clin Endocrinol (Oxf) (2003) 0.87

Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1. Biochim Biophys Acta (2013) 0.86

Vitamin B6 vitamer concentrations in cerebrospinal fluid differ between preterm and term newborn infants. Pediatrics (2012) 0.86

Metabolic profiles in children during fasting. Pediatrics (2011) 0.86

A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development. Dev Med Child Neurol (2007) 0.86

The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). Hum Mutat (2008) 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

Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations. Mol Genet Metab (2008) 0.86

Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages. J Biol Chem (2010) 0.86

Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1. Biochim Biophys Acta (2008) 0.86

Pregnancies in glycogen storage disease type Ia. Am J Obstet Gynecol (2008) 0.86

Plasma thiol status is altered in children with mitochondrial diseases. Scand J Clin Lab Invest (2012) 0.85

Effectiveness of chest physiotherapy in infants hospitalized with acute bronchiolitis: a multicenter, randomized, controlled trial. PLoS Med (2010) 0.85

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

Endothelial effects of 3-hydroxyglutaric acid: implications for glutaric aciduria type I. Pediatr Res (2006) 0.85

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter. Am J Med Genet A (2007) 0.85

Dietary management in glycogen storage disease type III: what is the evidence? J Inherit Metab Dis (2014) 0.84

The Tunisian population history through the Crigler-Najjar type I syndrome. Eur J Hum Genet (2008) 0.84

Secretion of phosphomannosyl-deficient arylsulphatase A and cathepsin D from isolated human macrophages. Biochem J (2002) 0.84