Pompe disease diagnosis and management guideline

Pompe disease diagnosis and management guideline

Autor Kishnani, P. S. Google Scholar
Steiner, R. D. Google Scholar
Bali, D. Google Scholar
Berger, K. Google Scholar
Byrne, B. J. Google Scholar
Case, L. Google Scholar
Crowley, J. F. Google Scholar
Downs, S. Google Scholar
Howell, R. R. Google Scholar
Kravitz, R. M. Google Scholar
Mackey, J. Google Scholar
Marsden, D. Google Scholar
Martins, Anna Maria Google Scholar
Millington, D. S. Google Scholar
Nicolino, M. Google Scholar
O'Grady, G. Google Scholar
Patterson, M. C. Google Scholar
Rapoport, D. M. Google Scholar
Slonim, A. Google Scholar
Spencer, C. T. Google Scholar
Tifft, C. J. Google Scholar
Watson, M. S. Google Scholar
ACMG Work Grp Management Pompe Dis Google Scholar
Instituição Duke Univ
Oregon Hlth Sci Univ
Univ Florida
Indiana Univ
Univ Miami
Harvard Univ
Universidade Federal de São Paulo (UNIFESP)
Columbia Univ
Resumo ACMG standards and guidelines are designed primarily as an educational resource for physicians and other health care providers to help them provide quality medical genetic services. Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. in determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from these standards and guidelines.
Palavra-chave Pompe disease
acid maltase deficiency
lysosomal storage disease
glycogen storage
disease type II
management guidelines
Idioma Inglês
Data de publicação 2006-05-01
Publicado em Genetics in Medicine. Philadelphia: Lippincott Williams & Wilkins, v. 8, n. 5, p. 267-288, 2006.
ISSN 1098-3600 (Sherpa/Romeo, fator de impacto)
Publicador Lippincott Williams & Wilkins
Extensão 267-288
Fonte http://dx.doi.org/10.1097/01.gim.0000218152.87434.f3
Direito de acesso Acesso aberto Open Access
Tipo Resenha
Web of Science WOS:000238164200001
Endereço permanente http://repositorio.unifesp.br/handle/11600/28860

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