Chart review of the management of late-onset Pompe patients diagnosed through newborn screening

被引:2
|
作者
Horgan, Sinead [1 ]
Charrow, Joel [1 ]
Jayaraman, Susheela [1 ]
Hickey, Rachel [1 ]
Hitchins, Lauren [1 ]
机构
[1] Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USA
关键词
D O I
10.1016/j.ymgme.2019.11.179
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
170
引用
收藏
页码:S74 / S74
页数:1
相关论文
共 50 条
  • [21] Physical therapy outcomes in young children with late-onset Pompe disease identified by newborn screening
    Kornafel, Tracy
    Flickinger, Jean
    Macchiarelli, Cindy
    MOLECULAR GENETICS AND METABOLISM, 2025, 144 (02)
  • [22] Newborn screening for Pompe disease: Parental experiences and follow-up care for a late-onset diagnosis
    Prakash, Supraja
    Penn, Jeremy D.
    Jackson, Kelly E.
    Dean, Lori Williamson
    JOURNAL OF GENETIC COUNSELING, 2022, 31 (06) : 1404 - 1420
  • [23] Physiotherapy management in late-onset Pompe disease: Clinical practice in 88 patients
    Favejee, Marein M.
    Huisstede, Bionka M. A.
    Bussmann, Johannes B. J.
    Kruijshaar, Michelle E.
    van der Ploeg, Ans T.
    MOLECULAR GENETICS AND METABOLISM, 2012, 107 (1-2) : 111 - 115
  • [24] Characteristics of Patients With Late-Onset Pompe Disease in France
    Lefeuvre, Claire
    De Antonio, Marie
    Bouhour, Francoise
    Tard, Celine
    Salort-Campana, Emmanuelle
    Lagrange, Emmeline
    Behin, Anthony
    Sole, Guilhem
    Noury, Jean-Baptiste
    Sacconi, Sabrina
    Magot, Armelle
    Nadaj-Pakleza, Aleksandra
    Lacour, Arnaud
    Beltran, Stephane
    Spinazzi, Marco
    Cintas, Pascal
    Renard, Dimitri
    Michaud, Maud
    Bedat-Millet, Anne-Laure
    Prigent, Helene
    Taouagh, Nadjib
    Arrassi, Azzeddine
    Hamroun, Dalil
    Attarian, Shahram
    Laforet, Pascal
    Pompe Study Grp
    NEUROLOGY, 2023, 101 (09) : E966 - E977
  • [25] Is the brain involved in patients with late-onset Pompe disease?
    van den Dorpel, Jan J. A.
    van der Vlugt, Willemijn M. C.
    Dremmen, Marjolein H. G.
    Muetzel, Ryan
    van den Berg, Esther
    Hest, Roos
    de Kriek, Joni
    Brusse, Esther
    van Doorn, Pieter A.
    van der Ploeg, Ans T.
    van den Hout, Johanna M. P.
    van der Beek, Nadine A. M. E.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2022, 45 (03) : 493 - 501
  • [26] Electromyographic findings in patients with late-onset pompe disease
    Musumeci, Olimpia
    Terranova, Carmen
    Pugliese, Alessia
    Rizzo, Vincenzo
    Girlanda, Paolo
    Toscano, Antonio
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2021, 429 : 238 - 239
  • [27] Evaluating avalglucosidase alfa for the management of late-onset Pompe disease
    Angelini, Corrado
    EXPERT REVIEW OF NEUROTHERAPEUTICS, 2024, 24 (03) : 259 - 266
  • [28] Late-Onset Pompe's Disease
    Teener, James W.
    SEMINARS IN NEUROLOGY, 2012, 32 (05) : 506 - 511
  • [29] Early presentation with late-onset Pompe disease genotype due to a genetic modifier: Lessons from newborn screening
    Michl, Emma
    Bonello, Kristin
    Yin, Suellen Moli
    Kishnani, Priya S.
    Sacharow, Stephanie
    MOLECULAR GENETICS AND METABOLISM, 2022, 135 (02) : S83 - S83
  • [30] A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations
    Wang, Raymond Y.
    INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2020, 6 (01)