Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil

Journal of Child Neurology

Volumn 21, Issue 6, 2006, Pages 540-544

  Rozenberg, R ^a   Kok, F ^a   Burin, M G ^b   Sa Miranda M C ^c   Vasques, C ^a   Henriques Souza, A M M ^d   Giugliani, R ^b   Vainzof, Mariz ^a   Pereira, L V ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^c UNIVERSITY OF PORTO   (Portugal)

^d INSTITUTO DE MEDICINA INTEGRAL PROF FERNANDO FIGUEIRA   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A;

ANAMNESIS; ARTICLE; ATAXIA; BRAZIL; CHILD; CLINICAL ARTICLE; CORRELATION ANALYSIS; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; GENE MUTATION; GENETIC COUNSELING; HETEROZYGOSITY; HETEROZYGOTE DETECTION; HUMAN; MENTAL DISEASE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SCREENING TEST; SPINAL MUSCULAR ATROPHY; TAY SACHS DISEASE;

ADULT; BETA-N-ACETYLHEXOSAMINIDASE; BRAZIL; CHILD; CHILD, PRESCHOOL; HUMANS; MUTATION; PEDIGREE; PHENOTYPE; TAY-SACHS DISEASE;

EID: 33746076750     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.2310/7010.2006.00102     Document Type: Article

References (16)

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