Pompe disease in a Brazilian series: Clinical and molecular analyses with identification of nine new mutations

Journal of Neurology

Volumn 256, Issue 11, 2009, Pages 1881-1890

  Oba Shinjo, Sueli M ^a   Da Silva, Roseli ^a   Andrade, Fernanda G ^a   Palmer, Rachel E ^b   Pomponio, Robert J ^b   Ciociola, Kristina M ^b   Carvalho, Mary S ^a   Gutierrez, Paulo S ^a   Porta, Gilda ^a   Marrone, Carlo D ^c   Munoz, Verônica ^d   Grzesiuk, Anderson K ^e   Llerena Jr , Juan C ^f   Berditchevsky, Célia R ^g   Sobreira, Claudia ^a   Horovitz, Dafne ^a   Hatem, Thamine P ^h   Frota, Elizabeth R C ^a   Pecchini, Rogerio ⁱ   Kouyoumdjian, João Aris ^j   Werneck, Lineu ^k   Amado, Veronica M ^l   Camelo Jr , José S ^a   Mattaliano, Robert J ^b   Marie, Suely K N ^a   more..

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b GENZYME CORPORATION   (United States)

^c Division of Pathology Anatomy   (Brazil)

^d HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^e Instituto Neurológico e da Coluna Vertebral   (Brazil)

^f INSTITUTO OSWALDO CRUZ   (Brazil)

^g HOSPITAL DOS SERVIDORES DO ESTADO   (Brazil)

^h Unidade de Cardiologia e Medicina Fetal   (Brazil)

ⁱ Charity Hospital Santa Casa de Misericórdia   (Brazil)

^j FACULDADE DE MEDICINA DE SÃO JOSÉ DO RIO PRETO   (Brazil)

^k FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

^l UNIVERSITY OF BRASILIA   (Brazil)

more..

Author keywords

Acid a glucosidase; Acid maltase deficiency; Glycogen storage disease type II; Mutation analysis; Novel mutation; Pompe disease

Indexed keywords

ALPHA GLUCOSIDASE;

ADOLESCENT; ADULT; ARTICLE; BRAZIL; CHILD; ETHNOLOGY; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; INFANT; MALE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PRESCHOOL CHILD;

ADOLESCENT; ADULT; AGE OF ONSET; ALPHA-GLUCOSIDASES; BRAZIL; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION;

EID: 73449148052     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-009-5219-y     Document Type: Article

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