Cargando…
Infantile hypotonia with failure to thrive
BACKGROUND: Pompe disease is a lysosomal glycogen storage disease (GSDII) characterized by deficiency of acid glucosidase, resulting in lysosomal glycogen accumulation in multiple tissues, with cardiac and skeletal muscles being the most seriously affected. It manifests itself as a spectrum in multi...
Autores principales: | Nagiub, Mohamed, Alton, Karen, Anne, Premchand |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
International Scientific Literature, Inc.
2012
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3615929/ https://www.ncbi.nlm.nih.gov/pubmed/23569532 http://dx.doi.org/10.12659/AJCR.883367 |
Ejemplares similares
-
A Five-Month-Old Boy With Hypotonia, Electrolyte Derangements, and Failure to Thrive
por: Luketich, Samuel K, et al.
Publicado: (2023) -
Heart rate variability evaluation in the assessment and management of in-utero drug-exposed infants
por: Nagiub, Mohamed, et al.
Publicado: (2014) -
Identification of FOXG1 mutations in infantile hypotonia and postnatal microcephaly
por: Jang, Han Na, et al.
Publicado: (2021) -
A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3
por: Halperin, Daniel, et al.
Publicado: (2022) -
Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia
por: Freese, Jurhee, et al.
Publicado: (2020)