Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Chang-Woo Jung"'
Publikováno v:
Korean Journal of Pediatrics, Vol 55, Iss 2, Pp 48-53 (2012)
PurposeGaucher disease is caused by a β-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population.MethodsClinical findings
Externí odkaz:
https://doaj.org/article/fd7ea7283e5e42beb8e03a1da1103e32
Autor:
Yoon Myung Kim, Sun Hee Heo, Beom Hee Lee, Chang Woo Jung, Jin-Ho Choi, Gu-Hwan Kim, Han Wook Yoo, Eungu Kang
Publikováno v:
Yonsei Medical Journal
PURPOSE Congenital hypopituitarism is caused by mutations in pituitary transcription factors involved in the development of the hypothalamic-pituitary axis. Mutation frequencies of genes involved in congenital hypopituitarism are extremely low and va
Autor:
Hye Young Jin, Beom Hee Lee, Chang-Woo Jung, Jae-Min Kim, Jin Soon Hwang, Sei Won Yang, Yoo-Mi Kim, Han-Wook Yoo, Gu-Hwan Kim, Jin-Ho Choi, Jin Lee
Publikováno v:
Hormone Research in Paediatrics. 77:388-393
Background/Aims: The objective of this study was to evaluate the efficacy of recombinant human growth hormone (rhGH) therapy and the influence of genotype on the response to rhGH therapy in children with Noonan syndrome (NS). Methods: 14 male and 4 f
Publikováno v:
Journal of Genetic Medicine. 8:125-129
Stickler syndrome is a very rare connective tissue disorder. The authors of the present study describe an 11-month-old girl with high myopia, retinal abnormalities, flat nose, cleft palate, retrognathia, micrognathia, short stature and arthrogryposis
Autor:
Choong Ho Shin, Han-Wook Yoo, Jin-Ho Choi, Yoo-Mi Kim, Gu-Hwan Kim, Sun Hee Heo, Chang-Woo Jung, Beom Hee Lee, Jin Lee, Hye Young Jin
Publikováno v:
Proteomics. 13(7)
This study was undertaken to identify growth hormone (GH) responsive proteins and protein expression patterns by short-term recombinant human growth hormone (rhGH) therapy in patients with idiopathic short stature (ISS) using proteomic analysis. Seve
Publikováno v:
Journal of human genetics. 57(1)
Methylcrotonylglycinuria (MCG) is an inborn error of leucine catabolism and results from the deficiency of 3-methylcrotonyl-CoA carboxylase. Patients with MCG show a highly variable clinical phenotype, ranging from asymptomatic to severe. With the in
Autor:
Beom Hee Lee, Jin-Joo Lee, Jung-Shin Lee, Han Wook Yoo, Jung Min Ko, Gu-Hwan Kim, Jee Ho Choi, Chang-Woo Jung, Hye Young Jin
Publikováno v:
Experimental and clinical endocrinologydiabetes : official journal, German Society of Endocrinology [and] German Diabetes Association. 120(1)
Steroid 21-hydroxylase deficiency is caused by inactivating mutations in the CYP21A2 gene. This paper reports on the mutation spectrum and the genotype-phenotype correlation of 21-hydroxylase deficiency. 72 unrelated patients with congenital adrenal
Publikováno v:
Korean Journal of Pediatrics
Korean Journal of Pediatrics, Vol 55, Iss 2, Pp 48-53 (2012)
Korean Journal of Pediatrics, Vol 55, Iss 2, Pp 48-53 (2012)
Purpose Gaucher disease is caused by a β-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population. Methods Clinical findin
Autor:
Jin-Ho Choi, Chang-Woo Jung, Eungu Kang, Yoon-Myung Kim, Sun Hee Heo, Beom Hee Lee, Gu-Hwan Kim, Han-Wook Yoo
Publikováno v:
Yonsei Medical Journal; May2017, Vol. 58 Issue 3, p527-532, 6p
Autor:
Lucia De Martino, Andrea Corrias, Heike Biebermann, Susanna Wiegand, Anne-Madeleine Bau, Barbara Kollerits, Jin-Ho Choi, Mustafa Atilla Nursoy, Vallo Tillmann, Wilfried Pott, Silvia Rudloff, Toivo Jürimäe, Alexandra Ahmet, Jin Lee, Susann Scherag, Jin Soon Hwang, Gu-Hwan Kim, Fortunato Lombardo, Mariacarolina Salerno, Inga Neissaar, T. Stijnen, Carolin Pütter, Filippo De Luca, Hyo-Kyoung Nam, André Scherag, Thomas Illig, Harald Brumm, Eva Landmann, Jessica Mühlhaus, Beom Hee Lee, Kee Hyoung Lee, Satz Mengensatzproduktion, Katre Maasalu, Selcuk Uzuner, Hye Young Jin, Emin Ozkaya, Sarah L. Tsai, Druck Reinhardt Druck Basel, Hai-Jun Wang, Kristel Pärna, Meeli Saar, Joachim Gerhard Kreuder, Alessandro Mussa, Sei Won Yang, Young Jun Rhie, Yeon Joung Oh, Jaak Jürimäe, Yoo-Mi Kim, Özgür Albayrak, Thomas Reinehr, Florian Kronenberg, Annette Grüters, Harald Grallert, Malgorzata Wasniewska, Werner F. Blum, Anna-Liisa Parm, Heiko Krude, Johannes Hebebrand, Ufuk Erenberk, Han-Wook Yoo, A.C.S. Hokken-Koelega, Chang-Woo Jung, Sang Hee Park, Anke Hinney, R.W.J. Leunissen, Jae-Min Kim, G.F. Kerkhof, Mariella Valenzise, Tommaso Aversa, Erkan Cakir
Publikováno v:
Hormone Research in Paediatrics. 77:407-408