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

Author

OBA-SHINJO, Sueli M¹ ; DA SILVA, Roseli¹ ; MUNOZ, Verônica⁶ ; GRZESIUK, Anderson K⁷ ; LLERENA, Juan C⁸ ; BERDITCHEVSKY, Célia R⁹ ; SOBREIRA, Claudia¹⁰ ; HOROVITZ, Dafne¹¹ ; HATEM, Thamine P¹² ; FROTA, Elizabeth R. C¹³ ; PECCHINI, Rogerio¹⁴ ; ARIS KOUYOUMDJIAN, João¹⁵ ; ANDRADE, Fernanda G¹ ; WERNECK, Lineu¹⁶ ; AMADO, Veronica M¹ ; CAMELO, José S¹ ; MATTALIANO, Robert J¹ ; MARIE, Suely K. N¹ ; PALMER, Rachel E⁴ ; POMPONIO, Robert J⁴ ; CIOCIOLA, Kristina M⁴ ; CARVALHO, Mary S¹ ; GUTIERREZ, Paulo S² ; PORTA, Gilda³ ; MARRONE, Carlo D⁵
[1] Myopathies and Molecular Biology Group, Department of Neurology, School of Medicine, University of São Paulo, Av Dr Arnaldo, 455, 4th Floor, Room 4110, São Paulo, SP 01246-903, Brazil
[2] Heart Institute, University of São Paulo, São Paulo, Brazil
[3] Department of Pediatrics, School of Medicine, University of São Paulo, São Paulo, Brazil
[4] Clinical Laboratory Science, Molecular Genetic Analysis Group, Genzyme Corporation, Framingham, MA, United States
[5] Division of Pathology Anatomy, Clinica Marrone, Porto Alegre, Rio Grande do Sul, Brazil
[6] Hospital das Clinicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
[7] Instituto Neurológico e da Coluna Vertebral, Cuiabá, Mato Grosso, Brazil
[8] Instituto Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil
[9] Hospital Servidores do Estado do Rio de Janeiro, Rio de Janeiro, Brazil
[10] Department of Neurology, Psychiatry and Medical Psychology, University of São Paulo, Ribeirão Preto, São Paulo, Brazil
[11] Department of Puericulture and Pediatrics, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, São Paulo, Brazil
[12] Unidade de Cardiologia e Medicina Fetal, Recife, Pernambuco, Brazil
[13] Hospital das Clinicas Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil
[14] Santa Casa de Misericórdia Medical School, São Paulo, Brazil
[15] Department of Neurological Sciences, School of Medicine of São José do Rio Preto, São Paulo, Brazil
[16] Hospital das Clinicas do Paraná, University of Paraná, Curitiba, Paraná, Brazil

Source

Journal of neurology. = Zeitschrift für Neurologie. 2009, Vol 256, Num 11, pp 1881-1890, 10 p ; ref : 30 ref

CODEN

JNRYA9

ISSN

0340-5354

Scientific domain

Neurology

Publisher

Springer, Heidelberg

Publication country

Germany

Document type

Article

Language

English

Author keyword

Acid maltase deficiency Acid α-glucosidase Glycogen storage disease type II Mutation analysis Novel mutation Pompe disease

Keyword (fr)

Déficit Glucan 1,4-α-glucosidase Glucide Glycogénose de Pompe Mutation Pathologie du système nerveux α-Glucosidase Enzyme Enzymopathie Glycosidases Glycosylases Hydrolases Maladie héréditaire Maladie métabolique

Keyword (en)

Deficiency Glucan 1,4-α-glucosidase Carbohydrate Glycogenosis II Pompe Mutation Nervous system diseases α-Glucosidase Enzyme Enzymopathy Glycosidases Glycosylases Hydrolases Genetic disease Metabolic diseases

Keyword (es)

Déficiencia Glucan 1,4-α-glucosidase Glúcido Glicogenosis II Pompe Mutación Sistema nervioso patología α-Glucosidase Enzima Enzimopatía Glycosidases Glycosylases Hydrolases Enfermedad hereditaria Metabolismo patología

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases

Discipline

Neurology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

22102812

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS