Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Margarida Maria Videira Henriques"'
Publikováno v:
Anales de Pediatría, Vol 99, Iss 6, Pp 445-446 (2023)
Externí odkaz:
https://doaj.org/article/b4bd27ba176e4ba4a174a9918c8add48
Publikováno v:
Anales de Pediatría (English Edition), Vol 99, Iss 6, Pp 445-446 (2023)
Externí odkaz:
https://doaj.org/article/7f87eb3ec259438ca8591f15c6d94556
Autor:
Patrícia Sofia Ferreira Miranda, Ester Preciosa Maio Nunes Pereira, Joana Serra Caetano Baltazar Barreto, Margarida Maria Videira Henriques, Maria Alice Santos Cordeiro Mirante, Lina Maria Jesus Ferreira Cardoso Ramos
Publikováno v:
Revista Paulista de Pediatria, Vol 38 (2020)
ABSTRACT Objective: To present a case of bilateral gynecomastia in a prepubertal boy with autism spectrum disorder, diagnosed with myotonic dystrophy type 1. Case description: A 12-year-old boy with autism spectrum disorder presented at a follow-up v
Externí odkaz:
https://doaj.org/article/bd13b3fba9c04760953345558912abdc
Autor:
Ana Francisca Henriques Cardoso, Carla Andreia Esteves Fernandes, Caroline Reis Lopes, E. Pereira, Margarida Maria Videira Henriques
Publikováno v:
Scientia Medica. 31:e39581
AIMS: The aims of this study were to characterize the etiological investigation of genetic cause in the autism spectrum disorder and to determine the factors related to its identification.METHODS: A retrospective descriptive study, with an analytical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::caff50878c1b2ad36b23bf85b76fc1aa
https://doi.org/10.15448/1980-6108.2021.1.39581
https://doi.org/10.15448/1980-6108.2021.1.39581
Autor:
Stefania Assereto, Margarida Maria Videira Henriques, Jildau Dilling, Isabel M. Carreira, Olinda Rebelo, Paula Garcia, Carlo Minetti, Eva Morava, Denise Cassandrini, Willem P. de Boode, Henk J. ter Laak, Luísa Diogo, Otto P. van Diggelen, Claudio Bruno
Publikováno v:
Biochemical & Biophysical Research Communications, 361(2), 445-450. Academic Press
Biochemical and Biophysical Research Communications, 361, 2, pp. 445-50
Biochemical and Biophysical Research Communications, 361, 445-50
Biochemical and Biophysical Research Communications, 361, 2, pp. 445-50
Biochemical and Biophysical Research Communications, 361, 445-50
Contains fulltext : 51443.pdf (Publisher’s version ) (Closed access) Glycogen branching enzyme deficiency (glycogen storage disease type IV, GSD-IV) is a rare autosomal recessive disorder of the glycogen synthesis with high mortality. Two female ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9538fec0a8274be02a2386f4c97d411d
https://hdl.handle.net/1765/35198
https://hdl.handle.net/1765/35198
Autor:
Luísa Diogo, Marta Simões, Margarida Maria Videira Henriques, Paula Garcia, João Pratas, Manuela Grazina
Publikováno v:
Journal of child neurology. 27(8)
MC, female, is the third child of a nonconsanguineous Portuguese couple, born after an uneventful pregnancy and delivery. A positive family history of ornithine transcarbamylase deficiency, associated with the IVS8+1 G>A mutation in the ornithine tra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e61bc3ab2b95d6234810b201400616f4
https://pubmed.ncbi.nlm.nih.gov/22241703
https://pubmed.ncbi.nlm.nih.gov/22241703