SCOPUS 정보 검색 플랫폼

Volumn 50, Issue 1, 2001, Pages 108-112

Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: Compound heterozygosity for the IVS2+1G→A mutation and a newly identified missense mutation (Thr408Ile) in a spanish family

(9) Comabella, Manuel a Waye, John S b Raguer, Nuria a Eng, Barry c Domínguez, Carmen a Navarro, Carmen d Borrás, Cecilia a Krivit, William e Montalbán, Xavier a

a HOSPITAL UNIVERSITARI VALL D HEBRON (Spain)

b MCMASTER UNIVERSITY MEDICAL CENTRE (Canada)

c MCMASTER UNIVERSITY (Canada)

d HOSPITAL DO MEIXOEIRO (Spain)

e UNIVERSITY OF MINNESOTA MEDICAL SCHOOL (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CEREBROSIDE SULFATASE;

ADULT; ALLELE; ARTICLE; CASE REPORT; DEMYELINATING DISEASE; ELECTROPHYSIOLOGY; ENZYME ACTIVITY; FAMILY STUDY; FEMALE; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; METACHROMATIC LEUKODYSTROPHY; MISSENSE MUTATION; MOLECULAR GENETICS; ONSET AGE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL;

ALLELES; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MIDDLE AGED; MUTATION, MISSENSE; NEURAL CONDUCTION; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES; SPAIN;

EID: 0034961708 PISSN: 03645134 EISSN: None Source Type: Journal
DOI: 10.1002/ana.1076 Document Type: Article

Times cited : (23)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.