A case of a Korean adult affected by type B Niemann-Pick disease: Secondary sea-blue histiocytosis and molecular characterization;B Korean Source Niemann-Pick Korean Source 1 Korean Source: Korean Source sea-blue Korean Source

Korean Journal of Laboratory Medicine

Volumn 29, Issue 2, 2009, Pages 97-103

  Cho, Young Uk ^a   Chae, Jeong Don ^a   Lee, Won Mi ^a   Woo, Jeong Joo ^a   Lee, Hong Bock ^a   Gong, Soo Jung ^a   Park, Chan Jeoung ^b   Kim, Gu Hwan ^b   Yoo, Han Wook ^b  

^a Eulji General Hospital   (South Korea)

^b University of Ulsan College of Medicine   (South Korea)

Author keywords

Sea blue histiocytes; SMPD1 mutation; Type B Niemann Pick disease

Indexed keywords

SPHINGOMYELIN PHOSPHODIESTERASE;

ADULT; ARTICLE; BONE MARROW CELL; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DNA SEQUENCE; FEMALE; GENETICS; HISTIOCYTOSIS; HUMAN; KOREA; LIVER; NIEMANN PICK DISEASE; NUCLEOTIDE SEQUENCE; PATHOLOGY; PREGNANCY;

ADULT; BASE SEQUENCE; BONE MARROW CELLS; FEMALE; HUMANS; KOREA; LIVER; NIEMANN-PICK DISEASE, TYPE B; PREGNANCY; SEA-BLUE HISTIOCYTE SYNDROME; SEQUENCE ANALYSIS, DNA; SPHINGOMYELIN PHOSPHODIESTERASE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 67249101872     PISSN: 15986535     EISSN: None     Source Type: Journal    
DOI: 10.3343/kjlm.2009.29.2.97     Document Type: Article

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