Zobrazeno 1 - 10
of 1 307
pro vyhledávání: '"Congenital Central Hypoventilation Syndrome"'
Autor:
Benjamin Dudoignon, Anna Maruani, Richard Delorme, Maxime Patout, Mylene Fefeu, Pierre Ellul, Plamen Bokov, Christophe Delclaux
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)
Abstract Background Congenital central hypoventilation syndrome (CCHS) is a rare condition characterized by alveolar hypoventilation and autonomic nervous system (ANS) dysfunction requiring long-term ventilation. CCHS could constitute a risk factor o
Externí odkaz:
https://doaj.org/article/1eed30b0314040699fc8a29a35000867
Autor:
Meazzini, Maria Costanza, Moretti, Mattia, Canzi, Gabriele, Sozzi, Davide, Novelli, Giorgio, Mazzoleni, Fabio
Publikováno v:
Children; Jun2024, Vol. 11 Issue 6, p720, 11p
Autor:
Ballard, Heather A.1 hballard@luriechildrens.org, Leavitt, Olga S.1, Chin, Anthony C.2, Kabre, Rashmi2, Weese‐Mayer, Debra E.3,4, Hajduk, John1, Jagannathan, Narasimhan1
Publikováno v:
Pediatric Anesthesia. Nov2018, Vol. 28 Issue 11, p963-973. 11p.
Autor:
Rojnueangnit, Kitiwan1,2, Descartes, Maria2,3 mdescart@uab.edu
Publikováno v:
Clinical Case Reports. Mar2018, Vol. 6 Issue 3, p465-468. 4p.
Autor:
Esteso Orduña, Borja1 (AUTHOR), Seijas Gómez, Raquel2 (AUTHOR), García Esparza, Elena3 (AUTHOR), Briceño, Emily M.4 (AUTHOR), Melero Llorente, Javier5 (AUTHOR), Fournier Del Castillo, María de la Concepción5 (AUTHOR) concepcion.fournier@salud.madrid.org
Publikováno v:
Journal of Clinical & Experimental Neuropsychology. Feb2018, Vol. 40 Issue 1, p75-83. 9p. 1 Black and White Photograph, 3 Charts.
Publikováno v:
Respiration; Dec2023, Vol. 102 Issue 12, p991-994, 4p
Autor:
Shimokaze, Tomoyuki1, Sasaki, Ayako1, Meguro, Toru1, Hasegawa, Hisaya2, Hiraku, Yuka3, Yoshikawa, Tetsushi4, Kishikawa, Yumiko1, Hayasaka, Kiyoshi
Publikováno v:
Journal of Human Genetics. Sep2015, Vol. 60 Issue 9, p473-477. 5p.
Publikováno v:
Journal of Neonatal - Perinatal Medicine. 2015, Vol. 8 Issue 2, p165-168. 4p.
Autor:
Verkaeren, Emilienne1, Brion, Agnès2,3, Hurbault, Amélie1,3,4, Chenivesse, Cécile1,3,4, Morelot-Panzini, Capucine1,3,4, Gonzalez-Bermejo, Jésus1,3,4, Attali, Valérie2,3,4, Similowski, Thomas1,3,4, Straus, Christian3,4,5 christian.straus@psl.aphp.fr
Publikováno v:
Respiratory Research. Jul2015, Vol. 16 Issue 1, p1-7. 7p. 2 Charts, 3 Graphs.
Autor:
Yaoyao Wang, Lina Wang, Xiaoying Chen, Shiguo Liu, Wei Han, Xinjuan Yu, Xipeng Cao, Xiuxiang Liu, Jiahui Wang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
Abstract Background Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant disease that is mainly caused by PHOX2B mutations. The purpose of this study is to analyze and summarize the clinical and genetic characteristics of C
Externí odkaz:
https://doaj.org/article/dfc871461b9a427e86e6ab2143adcc75