Published in Pediatr Nephrol on September 08, 2013
Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease. J Inherit Metab Dis (2015) 0.77
Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease. Mol Genet Metab Rep (2015) 0.75
Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies. N Engl J Med (1984) 2.25
Neonatal hemodialysis: effective therapy for the encephalopathy of inborn errors of metabolism. J Pediatr (1990) 1.51
Dialysis and pediatric acute kidney injury: choice of renal support modality. Pediatr Nephrol (2008) 1.25
Neurologic outcome of propionic acidemia. Pediatr Neurol (1992) 1.24
Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators. Pediatr Nephrol (2001) 1.22
Acute hemodialysis for hyperammonemia in small neonates. Pediatr Nephrol (2004) 1.20
Dialysis in neonates with inborn errors of metabolism. Nephrol Dial Transplant (1999) 1.16
Comparison of exchange transfusion, peritoneal dialysis, and hemodialysis for the treatment of hyperammonemia in an anuric newborn infant. J Pediatr (1979) 1.14
Ammonia clearance by peritoneal dialysis and continuous arteriovenous hemodiafiltration. Pediatr Nephrol (1998) 1.08
Continuous venovenous haemodialysis (CVVHD) and continuous peritoneal dialysis (CPD) in the acute management of 21 children with inborn errors of metabolism. Nephrol Dial Transplant (2009) 1.05
Utility of hemodialysis in maple syrup urine disease. Pediatr Nephrol (2002) 0.95
Intellectual performance of children with maple syrup urine disease. Eur J Pediatr (1993) 0.93
Renal replacement therapy in the treatment of confirmed or suspected inborn errors of metabolism. J Pediatr (2006) 0.88
Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date? Pediatr Nephrol (2007) 0.88
Effective hemodialysis and hemofiltration driven by an extracorporeal membrane oxygenation pump in infants with hyperammonemia. J Pediatr (1996) 0.85
Continuous venovenous haemodiafiltration in the acute phase of neonatal maple syrup urine disease. J Inherit Metab Dis (1997) 0.81
Nonrenal indications for continuous renal replacement therapy: A report from the Prospective Pediatric Continuous Renal Replacement Therapy Registry Group. Pediatr Crit Care Med (2012) 0.78
Brain damage by mild metabolic derangements in methylmalonic acidemia. Pediatr Neurol (2008) 0.77
High-volume continuous venovenous hemofiltration as an effective therapy for acute management of inborn errors of metabolism in young children. Blood Purif (2007) 0.75
Identification and management of cardiac perforation from a double lumen catheter in an infant. Paediatr Anaesth (2007) 0.75
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr (2006) 3.45
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med (2011) 3.21
Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. Hum Mutat (2013) 2.17
Extracorporeal membrane oxygenation rescue for cardiopulmonary resuscitation in pediatric patients. Crit Care Med (2008) 2.13
PSORS2 is due to mutations in CARD14. Am J Hum Genet (2012) 2.10
Extracorporeal membrane oxygenation support can extend the duration of cardiopulmonary resuscitation. Crit Care Med (2008) 2.09
Analysis and results of prolonged resuscitation in cardiac arrest patients rescued by extracorporeal membrane oxygenation. J Am Coll Cardiol (2003) 1.99
Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics (2008) 1.95
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum Mutat (2009) 1.78
Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome. Am J Med Genet A (2009) 1.74
Eleven years of experience with extracorporeal cardiopulmonary resuscitation for paediatric patients with in-hospital cardiac arrest. Resuscitation (2012) 1.73
Heart rate variability monitoring in the detection of central nervous system complications in children with enterovirus infection. J Crit Care (2006) 1.71
Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004. Am J Med Genet A (2009) 1.67
Crossover chimney technique to preserve the internal iliac artery in abdominal aortic aneurysm with common iliac artery aneurysms. J Endovasc Ther (2013) 1.66
Comparing the survival between extracorporeal rescue and conventional resuscitation in adult in-hospital cardiac arrests: propensity analysis of three-year data. Resuscitation (2010) 1.63
Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand... Autophagy (2007) 1.60
Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics (2009) 1.56
Nephromegaly is a significant risk factor for renal scarring in children with first febrile urinary tract infections. J Urol (2011) 1.51
Debate in newborn screening for metabolic disorders in Taiwan--a voluntary screening? Mandatory screening? Or both? Acta Paediatr Taiwan (2003) 1.48
Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort. Acta Paediatr (2007) 1.46
Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med (2012) 1.44
Clinical implication of blood levels of B-type natriuretic peptide in pediatric patients on mechanical circulatory support. Ann Thorac Surg (2006) 1.42
An unusual position of central venous catheter. Paediatr Anaesth (2006) 1.38
A step-wise diagnosis of fragile X syndrome in Taiwan. Acta Paediatr Taiwan (2004) 1.38
Distal arthrogryposis in two sisters born to different fathers. Am J Med Genet A (2004) 1.38
Scimitar syndrome: incidence, treatment, and prognosis. Eur J Pediatr (2007) 1.34
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. J Med Genet (2011) 1.33
Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations. Blood Cells Mol Dis (2006) 1.28
Acquired coronary artery fistula after open heart surgery for congenital heart disease. Int J Cardiol (2005) 1.28
Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification. Hum Mol Genet (2011) 1.23
Antibiotic resistance patterns of community-acquired urinary tract infections in children with vesicoureteral reflux receiving prophylactic antibiotic therapy. Pediatrics (2008) 1.23
Risk factors for mortality after the Norwood procedure using right ventricle to pulmonary artery shunt. Ann Thorac Surg (2009) 1.22
Gene therapy for aromatic L-amino acid decarboxylase deficiency. Sci Transl Med (2012) 1.22
Lung toxicity of hydroxypropyl-β-cyclodextrin infusion. Mol Genet Metab (2013) 1.19
Experience and result of extracorporeal membrane oxygenation in treating fulminant myocarditis with shock: what mechanical support should be considered first? J Heart Lung Transplant (2005) 1.18
High frequency of linezolid-associated thrombocytopenia among patients with renal insufficiency. Int J Antimicrob Agents (2006) 1.16
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry. Clin Chim Acta (2010) 1.16
Unilateral lung agenesis--detrimental roles of surrounding vessels. Pediatr Pulmonol (2007) 1.16
Diagnosing mucopolysaccharidosis IVA. J Inherit Metab Dis (2013) 1.14
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. Mol Genet Metab (2009) 1.13
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan. J Inherit Metab Dis (2010) 1.13
Adenovirus serotype 3 and 7 infection with acute respiratory failure in children in Taiwan, 2010-2011. PLoS One (2013) 1.11
Transcatheter closure of a ruptured sinus of valsalva aneurysm. Circ J (2006) 1.11
Establishing a standardized therapeutic testing protocol for spinal muscular atrophy. Neurobiol Dis (2006) 1.11
Extracorporeal membranous oxygenation support for acute fulminant myocarditis: analysis of a single center's experience. Eur J Cardiothorac Surg (2011) 1.08
Persistent truncus arteriosus: twenty years experience in a tertiary care center in Taiwan. Acta Paediatr Taiwan (2005) 1.07
How well does urinary lyso-Gb3 function as a biomarker in Fabry disease? Clin Chim Acta (2010) 1.06
Effective duration of antimicrobial therapy for the treatment of acute lobar nephronia. Pediatrics (2005) 1.03
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. Genet Med (2012) 1.02
A promoter sequence variant of ZNF750 is linked with familial psoriasis. J Invest Dermatol (2008) 1.02
The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives. Mol Genet Metab (2011) 1.01
A validated disease severity scoring system for adults with type 1 Gaucher disease. Genet Med (2010) 1.01
Spectrum of hypermethioninemia in neonatal screening. Early Hum Dev (2004) 1.00
Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype. Am J Med Genet A (2005) 1.00
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. Mol Genet Metab (2009) 0.99
Universal hepatitis B vaccination reduces childhood hepatitis B virus-associated membranous nephropathy. Pediatrics (2011) 0.99
Pompe disease: early diagnosis and early treatment make a difference. Pediatr Neonatol (2013) 0.99
Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat. Orphanet J Rare Dis (2012) 0.99
Cardiac conduction disturbance detected in a pediatric population. J Pediatr (2007) 0.98
Parkin mutations and early-onset parkinsonism in a Taiwanese cohort. Arch Neurol (2005) 0.97
Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants. J Pediatr (2006) 0.96
Long-term survival and unnatural deaths of patients with repaired tetralogy of Fallot in an Asian cohort. Circ Cardiovasc Qual Outcomes (2012) 0.95
Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations. Pediatrics (2007) 0.95
KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3. Mol Vis (2005) 0.94
Eye anomalies and neurological manifestations in patients with PAX6 mutations. Mol Vis (2009) 0.94
Living-related liver transplantation for methylmalonic acidemia: report of one case. Acta Paediatr Taiwan (2003) 0.94