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Primary carnitine deficiency and sud...

Tang, Leung Sang Nelson.

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Primary carnitine deficiency and sudden infant death: A pathologic and molecular genetic study.

Record Type:	Language materials, printed : Monograph/item
Title/Author:	Primary carnitine deficiency and sudden infant death: A pathologic and molecular genetic study./
Author:	Tang, Leung Sang Nelson.
Description:	206 p.
Notes:	Adviser: P. J. Johnson.
Contained By:	Dissertation Abstracts International63-05B.
Subject:	Biology, Genetics. -
Online resource:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3052112
ISBN:	0493675825

Primary carnitine deficiency and sudden infant death: A pathologic and molecular genetic study.
Tang, Leung Sang Nelson.

Primary carnitine deficiency and sudden infant death: A pathologic and molecular genetic study. - 206 p.

Adviser: P. J. Johnson.

Thesis (M.D.)--Chinese University of Hong Kong (People's Republic of China), 2002.

Primary carnitine deficiency (PCD, OMIM: 212140) is an inherited metabolic disease. Around a hundred cases have since been diagnosed worldwide. Patients with PCD may present either during infancy with symptoms of acute energy crisis, which is potentially lethal, or during childhood with dilated cardiomyopathy. Some infants with PCD who died suddenly were diagnosed as “sudden infant death syndrome”. The disease is caused by a defect in the active carnitine transporter on the plasma membrane and is inherited in an autosomal recessive mode.

ISBN: 0493675825Subjects--Topical Terms:

1017730
Biology, Genetics.

Primary carnitine deficiency and sudden infant death: A pathologic and molecular genetic study.
LDR:02420nam 2200289 a 45 001 934027
005 20110509
008 110509s2002 eng d
020 $a 0493675825
035 $a (UnM)AAI3052112
035 $a AAI3052112
040 $a UnM $c UnM
100 1 $a Tang, Leung Sang Nelson. $3 1257753
245 1 0 $a Primary carnitine deficiency and sudden infant death: A pathologic and molecular genetic study.
300 $a 206 p.
500 $a Adviser: P. J. Johnson.
500 $a Source: Dissertation Abstracts International, Volume: 63-05, Section: B, page: 2327.
502 $a Thesis (M.D.)--Chinese University of Hong Kong (People's Republic of China), 2002.
520 $a Primary carnitine deficiency (PCD, OMIM: 212140) is an inherited metabolic disease. Around a hundred cases have since been diagnosed worldwide. Patients with PCD may present either during infancy with symptoms of acute energy crisis, which is potentially lethal, or during childhood with dilated cardiomyopathy. Some infants with PCD who died suddenly were diagnosed as “sudden infant death syndrome”. The disease is caused by a defect in the active carnitine transporter on the plasma membrane and is inherited in an autosomal recessive mode.
520 $a Although inherited metabolic diseases have been reported to be the cause of about 10% of sudden infant deaths, there is a paucity of information on the metabolic causes of sudden infant death in Hong Kong. My investigation began with diagnosing the first case of PCD in Hong Kong, in a Chinese family with recurrent sudden infant death. As the affected proband was deceased, investigations were carried out in the parents to determine whether they were carriers of a PCD defect. Investigations into the molecular basis of the disease in this family have led to the identification of the disease-causing gene (OCTN2). Subsequent analysis of more Chinese cases has revealed a recurrent mutation of OCTN2 and permitted assessment of the carrier frequencies of different mutations in the general population of Southern Chinese. Similarly, detailed morphological and ultrastructural studies was also revealed in this study.
590 $a School code: 1307.
650 4 $a Biology, Genetics. $3 1017730
650 4 $a Health Sciences, Pathology. $3 1017854
690 $a 0369
690 $a 0571
710 2 0 $a Chinese University of Hong Kong (People's Republic of China). $3 1249360
773 0 $t Dissertation Abstracts International $g 63-05B.
790 $a 1307
790 1 0 $a Johnson, P. J., $e advisor
791 $a M.D.
792 $a 2002
856 4 0 $u http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3052112