SCOPUS 정보 검색 플랫폼

Volumn 375, Issue 1-2, 2007, Pages 171-172

DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay

(6) Yuen, Yuet Ping a Lam, Ching Wan b Chan, Kwok Yin a Lai, Chi Kong a Tong, Sui Fan b Chan, Yan Wo a

a PRINCESS MARGARET HOSPITAL (Hong Kong)

b CHINESE UNIVERSITY OF HONG KONG (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; BETAINE; CARNITINE; COBALAMIN; FOLIC ACID; GENOMIC DNA; HOMOCYSTINE; HYDROXOCOBALAMIN; METHYLMALONIC ACID; PROPIONYLCARNITINE; PROTEIN; REAGENT;

ANAMNESIS; BIOCHEMISTRY; BLOOD ANALYSIS; CASE REPORT; CHINESE; DEVELOPMENTAL DISORDER; DNA DETERMINATION; FOLLOW UP; FRAMESHIFT MUTATION; GAS CHROMATOGRAPHY; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC SCREENING; HOMOCYSTINURIA; HUMAN; LETTER; LIQUID CHROMATOGRAPHY; MALE; MASS SPECTROMETRY; METHYLMALONIC ACIDURIA; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN RESTRICTION; PROTEIN URINE LEVEL; SCREENING; TANDEM MASS SPECTROMETRY; VITAMIN METABOLISM;

ASIAN CONTINENTAL ANCESTRY GROUP; CARRIER PROTEINS; CHILD, PRESCHOOL; DNA; HOMOCYSTINURIA; HUMANS; MALE; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; MUTATION;

EID: 33750081762 PISSN: 00098981 EISSN: None Source Type: Journal
DOI: 10.1016/j.cca.2006.08.003 Document Type: Letter

Times cited : (13)

References (5)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.