Published in Mol Genet Metab on December 08, 2011
Hypothalamic POMC Deficiency Improves Glucose Tolerance Despite Insulin Resistance by Increasing Glycosuria. Diabetes (2015) 1.45
Phenotypic variability in patients with fanconi-bickel syndrome with identical mutations. JIMD Rep (2014) 0.82
Fanconi-Bickel syndrome as an example of marked allelic heterogeneity. World J Nephrol (2012) 0.78
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes. Endocr Rev (2016) 0.78
Mutations in SLC2A2 gene reveal hGLUT2 function in pancreatic β cell development. J Biol Chem (2013) 0.77
Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation. BMC Res Notes (2016) 0.75
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta. Mol Genet Genomic Med (2016) 0.75
Saving the Sweetness: Renal Glucose Handling in Health and Disease. Am J Physiol Renal Physiol (2017) 0.75
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet (2006) 5.29
Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis (2012) 2.46
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain (2005) 2.44
High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat (2005) 2.09
Glyceroluria and neonatal hemochromatosis. J Pediatr Gastroenterol Nutr (2012) 1.98
An outbreak of Shiga toxin-producing Escherichia coli O104:H4 hemolytic uremic syndrome in Germany: presentation and short-term outcome in children. Clin Infect Dis (2012) 1.79
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis (2014) 1.73
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
Differential expression of collagen- and laminin-binding integrins mediates ureteric bud and inner medullary collecting duct cell tubulogenesis. Am J Physiol Renal Physiol (2004) 1.34
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat Genet (2013) 1.32
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Mol Genet Metab (2007) 1.28
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain (2007) 1.27
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Am J Hum Genet (2003) 1.27
Long-term follow-up after rituximab for steroid-dependent idiopathic nephrotic syndrome. Nephrol Dial Transplant (2011) 1.24
Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. Arch Neurol (2006) 1.22
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. J Inherit Metab Dis (2013) 1.18
Long-term outcome of renal glucosuria type 0: the original patient and his natural history. Nephrol Dial Transplant (2004) 1.18
von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP. Blood (2002) 1.16
Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion. Nephrol Dial Transplant (2008) 1.16
The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis. Mol Genet Metab (2005) 1.14
Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSD. Horm Res Paediatr (2010) 1.13
Ketone body metabolism and its defects. J Inherit Metab Dis (2014) 1.13
CNS or bone marrow involvement as risk factors for poor survival in post-transplantation lymphoproliferative disorders in children after solid organ transplantation. J Clin Oncol (2007) 1.10
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. Am J Hum Genet (2013) 1.09
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. EMBO Mol Med (2010) 1.09
An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism. J Invest Dermatol (2009) 1.06
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet J Rare Dis (2013) 1.04
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. Arch Neurol (2008) 1.04
Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. J Pediatr (2007) 1.02
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). Am J Med Genet A (2011) 1.02
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. Hum Mutat (2006) 1.01
NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism. NMR Biomed (2008) 1.01
Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli. Hum Mol Genet (2004) 1.00
Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations. Nephrol Dial Transplant (2007) 1.00
Design of, and first data from, PATRO Children, a multicentre, noninterventional study of the long-term efficacy and safety of Omnitrope(®) in children requiring growth hormone treatment. Ther Adv Endocrinol Metab (2013) 0.99
Improved growth and cardiovascular risk after late steroid withdrawal: 2-year results of a prospective, randomised trial in paediatric renal transplantation. Nephrol Dial Transplant (2009) 0.99
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). Hum Genet (2009) 0.97
The peak height ratio of S-sulfonated transthyretin and other oxidized isoforms as a marker for molybdenum cofactor deficiency, measured by electrospray ionization mass spectrometry. Biochim Biophys Acta (2002) 0.96
Prenatal and postnatal treatment in cobalamin C defect. J Pediatr (2005) 0.95
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. Mitochondrion (2009) 0.94
Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening. J Inherit Metab Dis (2009) 0.94
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet J Rare Dis (2012) 0.94
Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child. Clin Chim Acta (2012) 0.93
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. Biochim Biophys Acta (2010) 0.92
Body mass index or waist circumference: which is the better predictor for hypertension and dyslipidemia in overweight/obese children and adolescents? Association of cardiovascular risk related to body mass index or waist circumference. Horm Res Paediatr (2013) 0.91
Feeding patterns in breast-fed and formula-fed infants. Ann Nutr Metab (2002) 0.90
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. J Inherit Metab Dis (2013) 0.90
Fungal alternative splicing is associated with multicellular complexity and virulence: a genome-wide multi-species study. DNA Res (2013) 0.89
Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment. J Inherit Metab Dis (2014) 0.89
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies. Eur J Hum Genet (2012) 0.88
Nephrolithiasis in a child with glucose-galactose malabsorption. Pediatr Nephrol (2003) 0.87
Prospective, randomized trial on late steroid withdrawal in pediatric renal transplant recipients under cyclosporine microemulsion and mycophenolate mofetil. Transplantation (2009) 0.87
Lectures based on cardinal symptoms in undergraduate medicine - effects of evaluation-based interventions on teaching large groups. GMS Z Med Ausbild (2011) 0.87
Effect of kidney disease on glucose handling (including genetic defects). Kidney Int Suppl (2011) 0.86
(Val-)Ganciclovir prophylaxis reduces Epstein-Barr virus primary infection in pediatric renal transplantation. Transpl Int (2012) 0.86
Genetic basis of hyperlysinemia. Orphanet J Rare Dis (2013) 0.85
Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia. Amino Acids (2009) 0.85
A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency. Hum Mutat (2004) 0.85
Synergistic effects of elevated systolic blood pressure and hypercholesterolemia on carotid intima-media thickness in children and adolescents. Pediatr Cardiol (2009) 0.84
Subclinical hypothyroidism and dyslipidemia in children and adolescents with type 1 diabetes mellitus. Eur J Endocrinol (2013) 0.84
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. Mol Genet Metab (2006) 0.84
The molecular basis of aminoacylase 1 deficiency. Biochim Biophys Acta (2011) 0.84
Elements of diabetic nephropathy in a patient with GLUT 2 deficiency. Mol Genet Metab (2005) 0.84
Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis. JIMD Rep (2014) 0.84
Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency. Mol Genet Metab (2008) 0.83
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies. Pediatr Nephrol (2014) 0.83
Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature. Liver Transpl (2014) 0.83
Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. Eur J Pediatr (2014) 0.83
Two inborn errors of metabolism in a newborn: glutaric aciduria type I combined with isobutyrylglycinuria. Clin Chim Acta (2010) 0.83
Severe metformin intoxication with lactic acidosis in an adolescent. Eur J Pediatr (2005) 0.82
Functional redundancy of mitochondrial enoyl-CoA isomerases in the oxidation of unsaturated fatty acids. FASEB J (2012) 0.82
Epidemiology and morbidity of Epstein-Barr virus infection in pediatric renal transplant recipients: a multicenter, prospective study. Clin Infect Dis (2012) 0.82
A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. J Inherit Metab Dis (2013) 0.82
High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor gamma: implications for the pathophysiology of phenylketonuria. Neurobiol Dis (2008) 0.81
Amino acid metabolism in patients with propionic acidaemia. J Inherit Metab Dis (2010) 0.81
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. Am J Med Genet A (2014) 0.80
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. Biochim Biophys Acta (2011) 0.80
Fanconi-Bickel syndrome and fertility. Am J Med Genet A (2011) 0.80
Differentiation of EBV-induced post-transplant Hodgkin lymphoma from Hodgkin-like post-transplant lymphoproliferative disease. Pediatr Transplant (2008) 0.79
Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis. J Allergy Clin Immunol (2012) 0.79
Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry. Clin Chem (2006) 0.79
Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management. J Diabetes Metab Disord (2013) 0.79
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany. JIMD Rep (2015) 0.78
Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders. Mol Nutr Food Res (2006) 0.78
Complete remission of post-transplant FSGS recurrence by long-term plasmapheresis. Pediatr Nephrol (2005) 0.78
Aminoacylase 1 deficiency associated with autistic behavior. J Inherit Metab Dis (2010) 0.78
Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency. Eur J Pediatr (2013) 0.78
Kidney transplantation with concomitant unilateral nephrectomy: a matched-pair analysis on complications and outcome. Transplantation (2006) 0.78
Glutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). Med Hypotheses (2005) 0.78
Pulse pressure in children and adolescents with type 1 diabetes mellitus in Germany and Austria. Pediatr Diabetes (2014) 0.77
Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serum. JIMD Rep (2011) 0.77
D-lactic acidosis: "right-left disorientation" in laboratory testing: acute encephalopathy in a child with carbohydrate malabsorption syndrome. J Pediatr Gastroenterol Nutr (2010) 0.76
Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome. Clin Chim Acta (2004) 0.76
L1CAM mutation in a boy with hydrocephalus and duplex kidneys. Pediatr Nephrol (2007) 0.76