Genotype-phenotype correlation in Wilson disease.
Journal of clinical gastroenterology
, 2010 Jul: 387-8
Next generation sequence analysis for mitochondrial disorders.
Genome medicine
, 2009 Oct 23: 100
Prevalence of ALDH7A1 mutations in 18 North American
pyridoxine-dependent seizure (PDS) patients.
Epilepsia
, 2009 May: 1167-75
Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening.
Clinical chemistry
, 2008 Dec: 1961-8
Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
, 2007 Nov: 1301-7
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
Genetics in medicine : official journal of the American College of Medical Genetics
, 2007 Feb: 108-16
Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis.
Pediatric neurology
, 2006 Oct: 289-92
Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease.
Molecular genetics and metabolism
, 2006 Sep-Oct: 134-8
Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.
Molecular genetics and metabolism
, 2006 May: 16-21
Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts.
Clinical chemistry
, 2005 Nov: 2110-6
Wilson Disease--keeping the bar for diagnosis raised.
Hepatology (Baltimore, Md.)
, 2005 Oct: 974
Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.
Genetics in medicine : official journal of the American College of Medical Genetics
, 2005 May-Jun: 339-43
Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report.
Clinica chimica acta; international journal of clinical chemistry
, 2005 Apr: 167-80
A common mutation is associated with a mild, potentially
asymptomatic phenotype in patients with isovaleric acidemia
diagnosed by newborn screening.
American journal of human
genetics
, 2004 Dec: 1136-42
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
The Journal of clinical endocrinology and metabolism
, 2004 Aug: 3687-93
Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry.
Clinical chemistry
, 2004 Mar: 621-5
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
American journal of human genetics
, 2004 Feb: 239-52
Molecular analysis of PCCB gene in Korean patients with propionic acidemia.
Molecular genetics and metabolism
, 2002 Nov: 209-16
Pilot study of mass screening for Wilson's disease in Korea.
Molecular genetics and metabolism
, 2002 Jun: 133-6
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.
European journal of biochemistry / FEBS
, 2002 Apr: 2151-61