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Results 1-7 of 7 (Search time: 3.016 seconds).

SCIESCOPUS
Three Korean patients with maple syrup urine disease: Four novel mutations in the BCKDHA gene

Park H.-D.[Park H.-D.]; Lee D.H.[Lee D.H.]; Hong Y.H.[Hong Y.H.]; Kang D.H.[Kang D.H.]; Lee Y.K.[Lee Y.K.]; Song J.[Song J.]; Lee S.-Y.[Lee S.-Y.]; Kim J.-W.[Kim J.-W.]; Ki C.-S.[Ki C.-S.]; Lee Y.-W.[Lee Y.-W.]

ArticleIssue Date2011CitationAnnals of Clinical and Laboratory Science, v.41, no.2, pp.167 - 173
SCIESCOPUS
SLC22A5 mutations in a patient with systemic primary carnitine deficiency: The first Korean case confirmed by biochemical and molecular investigation

Yoon Y.A.[Yoon Y.A.]; Lee D.H.[Lee D.H.]; Ki C.-S.[Ki C.-S.]; Lee S.-Y.[Lee S.-Y.]; Kim J.-W.[Kim J.-W.]; Lee Y.-W.[Lee Y.-W.]; Park H.-D.[Park H.-D.]

ArticleIssue Date2012CitationAnnals of Clinical and Laboratory Science, v.42, no.4, pp.424 - 428
SCIESCOPUS
Brief communication: Multiplex ligation-dependent probe amplification assay for diagnosis of congenital adrenal hyperplasia

Jang J.-H.[Jang J.-H.]; Jin D.-K.[Jin D.-K.]; Kim J.-H.[Kim J.-H.]; Tan H.-K.[Tan H.-K.]; Kim J.-W.[Kim J.-W.]; Lee S.-Y.[Lee S.-Y.]; Ki C.-S.[Ki C.-S.]; Park H.-D.[Park H.-D.]

ArticleIssue Date2011CitationAnnals of Clinical and Laboratory Science, v.41, no.1, pp.44 - 47
SCIESCOPUS
SLC22A5 mutations in a patient with systemic primary carnitine deficiency: The first Korean case confirmed by biochemical and molecular investigation

Yoon Y.A.[Yoon Y.A.]; Lee D.H.[Lee D.H.]; Ki C.-S.[Ki C.-S.]; Lee S.-Y.[Lee S.-Y.]; Kim J.-W.[Kim J.-W.]; Lee Y.-W.[Lee Y.-W.]; Park H.-D.[Park H.-D.]

ArticleIssue Date2012CitationAnnals of Clinical and Laboratory Science, v.42, no.4, pp.422 - 423
SCIESCOPUS
A novel PHKA2 gross deletion mutation in a Korean patient with X-linked liver glycogenosis type I

Park K.-J.[Park K.-J.]; Park H.-D.[Park H.-D.]; Lee S.-Y.[Lee S.-Y.]; Ki C.-S.[Ki C.-S.]; Choe Y.-H.[Choe Y.-H.]

ArticleIssue Date2011CitationAnnals of Clinical and Laboratory Science, v.41, no.2, pp.197 - 200
SCOPUS
A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease

Park, H.-D.[Park, H.-D.]; Moon, H.-K.[ Moon, H.-K.]; Lee, J.[Lee, J.]; Lee, M.[Lee, M.]; Lee, S.-Y.[Lee, S.-Y.]; Kim, J.-W.[Kim, J.-W.]; Ki, C.-S.[Ki, C.-S.]

ArticleIssue Date2009CitationAnnals of Clinical and Laboratory Science, v.39, no.2, pp.188 - 191
SCOPUS
Case report: Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency

Park, H.-D.[Park, H.-D.]; Kim, S.R.[ Kim, S.R.]; Ki, C.-S.[Ki, C.-S.]; Lee, S.-Y.[Lee, S.-Y.]; Chang, Y.S.[Chang, Y.S.]; Jin, D.-K.[Jin, D.-K.]; Park, W.S.[Park, W.S.]

ArticleIssue Date2009CitationAnnals of Clinical and Laboratory Science, v.39, no.4, pp.399 - 404
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