Pompe disease diagnosis and management guideline

• Autor(a) principal: Kishnani, P. S.
• Data de Publicação: 2006
• Outros Autores: Steiner, R. D., Bali, D., Berger, K., Byrne, B. J., Case, L., Crowley, J. F., Downs, S., Howell, R. R., Kravitz, R. M., Mackey, J., Marsden, D., Martins, Anna Maria [UNIFESP], Millington, D. S., Nicolino, M., O'Grady, G., Patterson, M. C., Rapoport, D. M., Slonim, A., Spencer, C. T., Tifft, C. J., Watson, M. S., ACMG Work Grp Management Pompe Dis
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UNIFESP
• dARK ID: ark:/48912/001300000j265
• DOI: 10.1097/01.gim.0000218152.87434.f3
• Texto Completo: http://dx.doi.org/10.1097/01.gim.0000218152.87434.f3; http://repositorio.unifesp.br/handle/11600/28860
• topic: Pompe disease; acid maltase deficiency; lysosomal storage disease; glycogen storage; disease type II; management guidelines

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.