Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease.

Alandy-Dy, Jousef; Wencel, Marie; Hall, Kathy; Simon, Julie; Chen, Yanjun; Valenti, Erik; Yang, Jade; Bali, Deeksha; Lakatos, Anita; Goyal, Namita; Mozaffar, Tahseen; Kimonis, Virginia

Alandy-Dy, Jousef; Wencel, Marie; Hall, Kathy; Simon, Julie; Chen, Yanjun; Valenti, Erik; Yang, Jade; Bali, Deeksha; Lakatos, Anita; Goyal, Namita; Mozaffar, Tahseen; Kimonis, Virginia.

Afiliación

Alandy-Dy J; Division of Genetics, Department of Pediatrics, University of California- Irvine, Orange, CA, USA.
Wencel M; Division of Genetics, Department of Pediatrics, University of California- Irvine, Orange, CA, USA.
Hall K; Division of Neuromuscular Disease, Department of Neurology, University of California- Irvine, Orange, CA, USA.
Simon J; Division of Genetics, Department of Pediatrics, University of California- Irvine, Orange, CA, USA.
Chen Y; Division of Genetics, Department of Pediatrics, University of California- Irvine, Orange, CA, USA.
Valenti E; Biostatistics, Epidemiology & Research Design (BERD) Unit, UCI Institute for Clinical and Translational Science, California- Irvine, Irvine, CA, USA.
Yang J; Division of Genetics, Department of Pediatrics, University of California- Irvine, Orange, CA, USA.
Bali D; Division of Neuromuscular Disease, Department of Neurology, University of California- Irvine, Orange, CA, USA.
Lakatos A; Dietitian & Nutrition Services, University of California- Irvine, Orange, CA, USA.
Goyal N; Biochemical Genetics Laboratory, Duke University Health System, Durham, NC, USA.
Mozaffar T; Division of Genetics, Department of Pediatrics, University of California- Irvine, Orange, CA, USA.
Kimonis V; Division of Neuromuscular Disease, Department of Neurology, University of California- Irvine, Orange, CA, USA.

Ann Transl Med ; 7(13): 276, 2019 Jul.

Article en En | MEDLINE | ID: mdl-31392188

Palabras clave

Pompe disease; aneurysm; enzyme replacement therapy (ERT); genotype-phenotype correlation; newborn screening; novel GAA variants; pulmonary function studies; six-minute walk test (6MWT); testicular cancer

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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Ann Transl Med Año: 2019 Tipo del documento: Article

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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Ann Transl Med Año: 2019 Tipo del documento: Article