Later Onset Congenital Central Hypoventilation Syndrome

被引:1
作者
Amos, Louella [1 ]
机构
[1] Childrens Wisconsin, Med Coll Wisconsin, 9000 West Wisconsin Ave, Milwaukee, WI 53226 USA
关键词
Later onset congenital central hypoventilation syndrome; Adolescent; PHOX2B; VENTILATORY RESPONSES; PHOX2B MUTATIONS; ONDINES-CURSE; PHENOTYPE; EXERCISE; CHILDREN; MOTION;
D O I
10.1016/j.mcna.2023.05.021
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:215 / 226
页数:12
相关论文
共 25 条
  • [1] Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome
    Bachetti, Tiziana
    Parodi, Sara
    Di Duca, Marco
    Santamaria, Giuseppe
    Ravazzolo, Roberto
    Ceccherini, Isabella
    [J]. JOURNAL OF MOLECULAR MEDICINE-JMM, 2011, 89 (05): : 505 - 513
  • [2] Congenital central hypoventilation syndrome -: PHOX2B mutations and phenotype
    Berry-Kravis, Elizabeth M.
    Zhou, Lili
    Rand, Casey M.
    Weese-Mayer, Debra E.
    [J]. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2006, 174 (10) : 1139 - 1144
  • [3] Central Hypoventilation Syndromes
    Cielo, Christopher M.
    Marcus, Carole L.
    [J]. SLEEP MEDICINE CLINICS, 2014, 9 (01) : 105 - 118
  • [4] Adolescent Congenital Central Hypoventilation Syndrome: An Easily Overlooked Diagnosis
    Ditmer, Marta
    Turkiewicz, Szymon
    Gabryelska, Agata
    Sochal, Marcin
    Bialasiewicz, Piotr
    [J]. INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH, 2021, 18 (24)
  • [5] Ventilatory responses to passive leg motion in children with congenital central hypoventilation syndrome
    Gozal, D
    Marcus, CL
    Ward, SLD
    Keens, TG
    [J]. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 1996, 153 (02) : 761 - 768
  • [6] Passive motion of the extremities modifies alveolar ventilation during sleep in patients with congenital central hypoventilation syndrome
    Gozal, D
    Simakajornboon, N
    [J]. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2000, 162 (05) : 1747 - 1751
  • [7] Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis
    Hino, Aoi
    Terada, Jiro
    Kasai, Hajime
    Shojima, Hikaru
    Ohgino, Keiko
    Sasaki, Ayako
    Hayasaka, Kiyoshi
    Tatsumi, Koichiro
    [J]. JOURNAL OF CLINICAL SLEEP MEDICINE, 2020, 16 (11): : 1891 - 1900
  • [8] Congenital Central Hypoventilation Syndrome: Optimizing Care with a Multidisciplinary Approach
    Kasi, Ajay S.
    Li, Hong
    Harford, Kelli-Lee
    Lam, Humphrey, V
    Mao, Chad
    Landry, April M.
    Mitchell, Sarah G.
    Clifton, Matthew S.
    Leu, Roberta M.
    [J]. JOURNAL OF MULTIDISCIPLINARY HEALTHCARE, 2022, 15 : 455 - 469
  • [9] Adult With PHOX2B Mutation and Late-Onset Congenital Central Hypoventilation Syndrome
    Kasi, Ajay S.
    Kun, Sheila S.
    Keens, Thomas G.
    Perez, Iris A.
    [J]. JOURNAL OF CLINICAL SLEEP MEDICINE, 2018, 14 (12): : 2079 - 2081
  • [10] Khaytin I, 2004, GENEREVIEWS, P1993