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Information quantifiers and unpredictability in the COVID-19 time-series data
(Centro de Investigaciones en Matemática Pura y Aplicada (CIMPA) y Escuela de Matemática, San José, Costa Rica., 2023)
Pompe disease diagnosis and management guideline
(Lippincott Williams & Wilkins, 2006-05-01)
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 ...
Búsqueda de enfermedad de pompe en la población pediátrica en Colombia
(Especialización en PediatríaUniversidad El BosqueFacultad de Medicina, 2015)
La glucogenosis tipo II, o enfermedad de Pompe (OMIM 232300), también denominada
déficit de maltasa ácida, es una afección rara del almacenamiento lisosomal que se caracteriza por el acúmulo de glucógeno, principalmente ...
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations
(DR DIETRICH STEINKOPFF VERLAG, 2009)
Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an inherited autosomal recessive deficiency of acid alpha-glucosidase (GAA), with predominant manifestations of skeletal muscle weakness. A ...
Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients
(ACADEMIC PRESS INC ELSEVIER SCIENCESAN DIEGO, 2012)
Pompe disease is a genetic disorder resulting from a deficiency of lysosomal acid alpha-glucosidase (GAA) that manifests as a clinical spectrum with regard to symptom severity and rate of progression. In this study, we ...
Resposta ao uso da terapia de reposição enzimática na doença de pompe: uma revisão sistemática com metanálises
(Instituto de Ciências da Saúde, Universidade Federal da Bahia.Programa de Pós-Graduação em Processos Interativos dos Órgãos e Sistemas.UFBAbrasil, 2016-10-25)
Contexto: A Doença de Pompe, também conhecida como Doença de Depósito do Glicogênio tipo II ou Deficiência de maltase ácida, caracteriza-se pelo acúmulo de glicogênio intralisossomal devido à atividade insuficiente da ...
Novel GAA mutations in patients with Pompe disease
(Elsevier B.V., 2015-04-25)
Pompe disease is an autosomal recessive disorder linked to GAA gene that leads to a multi-system intralysosomal accumulation of glycogen. Mutation identification in the GM gene can be very important for early diagnosis, ...
Intervención fisioterapéutica en niños con la enfermedad de Pompe
(Universidad Nocional de Chimborazo, 2022)