Contribution of clinical screening to carrier detection in a large Chinese family with fabry disease due to a novel alpha-galactosidase A gene deletion

European Journal of Neurology

Volumn 14, Issue 5, 2007, Pages 493-497

  Ro, L S ^b   Chen, C M ^b   Chang, H S ^b   Lyu, R K ^b   Wu, Y R ^b   Hsu, W C ^b   Lee Chen, G J ^a  

^a NATIONAL TAIWAN NORMAL UNIVERSITY   (Taiwan)

^b CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

Author keywords

Acroparesthesia; Alpha galactosidase A deficiency; Angiokeratoma; Corneal verticilata; Fabry disease; Hypohidrosis; Lysosomal disease

Indexed keywords

ADOLESCENT; ADULT; ANHIDROSIS; ARTICLE; BIOCHEMISTRY; CHILD; CHINESE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CORNEA DISEASE; ELECTROPHYSIOLOGY; EXON; EYE EXAMINATION; FABRY DISEASE; FEMALE; GENE DELETION; GENETIC ANALYSIS; GENETIC SCREENING; HAPLOTYPE; HEMANGIOKERATOMA; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; INTRON; KIDNEY FUNCTION; MALE; NEUROLOGIC EXAMINATION; PAIN; PRIORITY JOURNAL; SCORING SYSTEM; SEX DIFFERENCE; SLIT LAMP; STATISTICAL SIGNIFICANCE;

ALPHA-GALACTOSIDASE; ASIAN CONTINENTAL ANCESTRY GROUP; CEREBROVASCULAR ACCIDENT; CORNEAL DISEASES; DNA MUTATIONAL ANALYSIS; FABRY DISEASE; FEMALE; GENE DELETION; GENETIC MARKERS; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; KIDNEY FAILURE; MALE; MUTATION; PAIN MEASUREMENT; PEDIGREE; PREDICTIVE VALUE OF TESTS; QUALITY OF LIFE; SEX CHARACTERISTICS; TAIWAN;

EID: 34247105306     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2006.01611.x     Document Type: Article

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