Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Song Hyun Yang"'
Publikováno v:
Korean Journal of Pediatrics, Vol 59, Iss Suppl 1, Pp S41-S44 (2016)
We report here a case of maternal 3-methylcrotonyl-coenzyme A carboxylase (3-MCC) deficiency in a Korean woman. Her 2 infants had elevated 3-hydroxyisovalerylcarnitine (C5-OH) on a neonatal screening test by liquid chromatography-tandem mass spectrom
Externí odkaz:
https://doaj.org/article/0fb321794a4744438af4675d20c515fc
Evaluation of Serum Cotinine Cut-Off to Distinguish Smokers From Nonsmokers in the Korean Population
Autor:
Eun Hee Lee, Kiwoong Ko, Hyosoon Park, Chul Jin Moon, Song Hyun Yang, Min Jung Kwon, Hee Yeon Woo
Publikováno v:
Annals of Laboratory Medicine
BACKGROUND Cotinine has been widely used as an objective marker to identify current smokers. We conducted this study to address the absence of Korean studies investigating the efficacy of immunoassays and liquid chromatography-tandem mass spectrometr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cbb1f5f2c0c4953464ea84ed38271fd
http://europepmc.org/articles/PMC4940485
http://europepmc.org/articles/PMC4940485
Autor:
Sung Yoon Cho, Hyung Suk Jin, Ok Hwa Kim, Song Hyun Yang, Ho Young Song, Chang-Seok Ki, Su Jin Kim
Publikováno v:
Annals of Laboratory Medicine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20f58aad7509ab69bc27edac390ce1e1
http://europepmc.org/articles/PMC5107629
http://europepmc.org/articles/PMC5107629
Autor:
Ja Hye Kim, Sun Hee Heo, In-Hee Choi, Beom Hee Lee, Han-Wook Yoo, Song Hyun Yang, Gu-Hwan Kim, Kyu Ha Woo, Yoo-Mi Kim, Jae-Min Kim
Publikováno v:
Journal of Human Genetics. 59:276-279
Plasma chitotriosidase activity is used for diagnosis and monitoring of Gaucher disease. However, homozygous duplication of a 24 bp region in exon 10 of the chitotriosidase gene (CHIT1) abolishes enzyme activity, limiting its use as a biomarker in Ga
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf198cdb812e4d3ccfd2035611a420ef
https://doi.org/10.1038/jhg.2014.16
https://doi.org/10.1038/jhg.2014.16
Autor:
Chong Kun Cheon, Jin-Ho Choi, Minji Kang, Song Hyun Yang, Beom Hee Lee, Joo Hyun Kim, Han-Wook Yoo, Gu-Hwan Kim, Jae-Min Kim
Publikováno v:
Journal of Human Genetics. 56:94-96
This study described the clinical and molecular genetic features of classical galactosemia in Korean population to contribute to the insight in the spectrum of galactosemia in the world, as little is known about the spectrum and incidence of galactos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::228a52f6acbe8f846c42515644275dd6
https://doi.org/10.1038/jhg.2010.152
https://doi.org/10.1038/jhg.2010.152
Autor:
Hee Kyung Jin, Edward H. Schuchman, Yong Chul Bae, Jae-sung Bae, Hyun Lee, Nozomu Okino, Tadashi Yamashita, Song Hyun Yang, Jong Kil Lee
Publikováno v:
Molecules and Cells
In several lysosomal storage disorders, including Niemann-Pick disease Type C (NP-C), sphingolipids, including glycosphingolipids, particularly gangliosides, are the predominant storage materials in the brain, raising the possibility that accumulatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8961e35ee9c6407420d590644fe259c5
https://pubmed.ncbi.nlm.nih.gov/24599001
https://pubmed.ncbi.nlm.nih.gov/24599001
Publikováno v:
Korean Journal of Pediatrics
Korean Journal of Pediatrics, Vol 59, Iss Suppl 1, Pp S41-S44 (2016)
Korean Journal of Pediatrics, Vol 59, Iss Suppl 1, Pp S41-S44 (2016)
We report here a case of maternal 3-methylcrotonyl-coenzyme A carboxylase (3-MCC) deficiency in a Korean woman. Her 2 infants had elevated 3-hydroxyisovalerylcarnitine (C5-OH) on a neonatal screening test by liquid chromatography-tandem mass spectrom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6214facd0d8f6e3066851ae2f382b8d6
https://doi.org/10.3345/kjp.2016.59.11.s41
https://doi.org/10.3345/kjp.2016.59.11.s41
Autor:
Beom Hee Lee, Woo Shik Kim, Sun Hee Heo, Kyung Hoon Choe, Song Hyun Yang, Han Wook Yoo, Gu-Hwan Kim, Won Ho Kim, Duk Hee Kang, Jung Young Park
Publikováno v:
Journal of human genetics. 55(8)
Fabry disease is caused by an alpha-galactosidase A (GLA) deficiency. In this study, we identified 28 unrelated Korean families with Fabry disease with 25 distinct mutations in the GLA gene including six novel mutations (p.W47X, p.C90X, p.D61EfsX32,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c72ff67378a7f2358f889550178dcbb
https://pubmed.ncbi.nlm.nih.gov/20505683
https://pubmed.ncbi.nlm.nih.gov/20505683
Autor:
Beom Hee Lee, Yoo-Mi Kim, Ja Hye Kim, Gu-Hwan Kim, Jae-Min Kim, Joo Hyun Kim, Kyu Ha Woo, Song Hyun Yang, Chong Jai Kim, In-Hee Choi, Han-Wook Yoo
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition; Mar2015, Vol. 60 Issue 3, pe19-e22, 4p
Autor:
Gil Hong Sun, Chul Jin Park, Keo Woon Park, Sang Yong Kim, Hak Yoen Bae, Eun Hae Cho, Jin Hwa Kim, Song Hyun Yang, Hyung Ho Kim
Publikováno v:
Journal of Korean Endocrine Society. 21:542
Adult onset type II citrullinemia is an autosomal recessive disorder of the amino acid metabolism caused by a deficiency of liver specific argininosuccinate synthetase activity. This disease can occur at any age in life with recurrent episodes of neu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1d4191c52139021dc20169d0f18685a5
https://doi.org/10.3803/jkes.2006.21.6.542
https://doi.org/10.3803/jkes.2006.21.6.542