PubRank

Si Houn Hahn

Author PubWeight™ 26.42‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clin Chem 2003 1.92
2 Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 2004 1.91
3 Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet 2004 1.66
4 Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening. Clin Chem 2008 1.55
5 Next generation sequence analysis for mitochondrial disorders. Genome Med 2009 1.42
6 Clinical molecular diagnosis of Wilson disease. Semin Liver Dis 2011 1.05
7 Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum. Pediatr Int 2012 0.96
8 Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures. J Neurosci Methods 2009 0.96
9 Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease. Mol Genet Metab 2006 0.92
10 Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts. Clin Chem 2005 0.89
11 Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans. Genet Med 2011 0.88
12 Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report. Clin Chim Acta 2005 0.88
13 Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med 2007 0.87
14 Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes. Childs Nerv Syst 2007 0.84
15 Genotype-phenotype correlation in Wilson disease. J Clin Gastroenterol 2010 0.81
16 Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I. Mol Genet Metab 2006 0.81
17 Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS. Mol Genet Metab 2013 0.80
18 Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis. Pediatr Neurol 2006 0.80
19 Wilson Disease--keeping the bar for diagnosis raised. Hepatology 2005 0.80
20 Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification. Genet Med 2005 0.79
21 In vitro correction of disorders of lysosomal transport by microvesicles derived from baculovirus-infected Spodoptera cells. Mol Genet Metab 2013 0.78
22 Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy. Ann Neurol 2014 0.78
23 An exceptional family with three consecutive generations affected by Wilson disease. JIMD Rep 2013 0.76
24 Nuclear proteins that bind to metal response element a (MREa) in the Wilson disease gene promoter are Ku autoantigens and the Ku-80 subunit is necessary for basal transcription of the WD gene. Eur J Biochem 2002 0.76
25 Tryptic peptide screening for primary immunodeficiency disease by LC/MS-MS. Proteomics Clin Appl 2012 0.76
26 Molecular analysis of PCCB gene in Korean patients with propionic acidemia. Mol Genet Metab 2002 0.75
27 A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly. JIMD Rep 2015 0.75
28 Newborn screening and renal disease: where we have been; where we are now; where we are going. Pediatr Nephrol 2011 0.75
29 Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L). Pediatr Int 2013 0.75