Methylmalonic and propionic acidemia among hospitalized pediatric patients: a nationwide report

被引:0
|
作者
Jiang, Y. -Z [1 ,2 ,3 ]
Shi, Y. [4 ,5 ]
Shi, Y. [4 ,5 ]
Gan, L. -X [5 ]
Kong, Y. -Y [4 ]
Sun, L. -Y [1 ,2 ,3 ]
Wang, H. -B [6 ]
Zhu, Z. -J [1 ,3 ]
机构
[1] Capital Med Univ, Beijing Friendship Hosp, Liver Transplantat Ctr, Natl Clin Res Ctr Digest Dis, Beijing, Peoples R China
[2] Capital Med Univ, Beijing Friendship Hosp, Intens Care Unit, Beijing, Peoples R China
[3] Capital Med Univ, Clin Ctr Pediat Liver Transplantat, Beijing, Peoples R China
[4] Capital Med Univ, Beijing Friendship Hosp, Clin Epidemiol & EBM Unit, Natl Clin Res Ctr Digest Dis, Beijing, Peoples R China
[5] China Stand Med Informat Res Ctr, Shenzhen, Guangdong, Peoples R China
[6] Sun Yat Sen Univ, Affiliated Hosp 1, Clin Trial Unit, Precis Med Inst, Guangzhou, Guangdong, Peoples R China
关键词
D O I
暂无
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
P-340
引用
收藏
页码:263 / 263
页数:1
相关论文
共 50 条
  • [21] Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
    Baumgartner, Matthias R.
    Hoerster, Friederike
    Dionisi-Vici, Carlo
    Haliloglu, Goknur
    Karall, Daniela
    Chapman, Kimberly A.
    Huemer, Martina
    Hochuli, Michel
    Assoun, Murielle
    Ballhausen, Diana
    Burlina, Alberto
    Fowler, Brian
    Gruenert, Sarah C.
    Gruenewald, Stephanie
    Honzik, Tomas
    Merinero, Begona
    Perez-Cerda, Celia
    Scholl-Buergi, Sabine
    Skovby, Flemming
    Wijburg, Frits
    MacDonald, Anita
    Martinelli, Diego
    Sass, Joern Oliver
    Valayannopoulos, Vassili
    Chakrapani, Anupam
    ORPHANET JOURNAL OF RARE DISEASES, 2014, 9
  • [22] Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
    Matthias R Baumgartner
    Friederike Hörster
    Carlo Dionisi-Vici
    Goknur Haliloglu
    Daniela Karall
    Kimberly A Chapman
    Martina Huemer
    Michel Hochuli
    Murielle Assoun
    Diana Ballhausen
    Alberto Burlina
    Brian Fowler
    Sarah C Grünert
    Stephanie Grünewald
    Tomas Honzik
    Begoña Merinero
    Celia Pérez-Cerdá
    Sabine Scholl-Bürgi
    Flemming Skovby
    Frits Wijburg
    Anita MacDonald
    Diego Martinelli
    Jörn Oliver Sass
    Vassili Valayannopoulos
    Anupam Chakrapani
    Orphanet Journal of Rare Diseases, 9
  • [23] DEVELOPMENT OF A CONCEPTUAL MODEL & COA MEASUREMENT STRATEGY IN PROPIONIC ACIDEMIA/METHYLMALONIC ACIDEMIA
    Sikirica, V
    Schwartz, E. J.
    Moshkovich, O.
    VALUE IN HEALTH, 2023, 26 (06) : S335 - S335
  • [24] Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical Outcomes
    Critelli, Kristen
    McKiernan, Patrick
    Vockley, Jerry
    Mazariegos, George
    Squires, Robert H.
    Soltys, Kyle
    Squires, James E.
    LIVER TRANSPLANTATION, 2018, 24 (09) : 1260 - 1270
  • [25] Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study
    Chapman, Kimberly A.
    MacEachern, Devon
    Cox, Gerald F.
    Waller, Mavis
    Fogarty, Jeanine
    Granger, Suzanne
    Stepanians, Miganush
    Waisbren, Susan
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2023, 34
  • [26] Hyperglycinemia in pediatric patients with propionic acidemia: a review of literature
    Bertelsmann, C.
    Amba, K.
    MOLECULAR GENETICS AND METABOLISM, 2024, 141 : 12 - 12
  • [27] Propionic Acidemia, Methylmalonic Acidemia, and Cobalamin C Deficiency: Comparison of Untargeted Metabolomic Profiles
    Sidorina, Anna
    Catesini, Giulio
    Sacchetti, Elisa
    Rizzo, Cristiano
    Dionisi-Vici, Carlo
    METABOLITES, 2024, 14 (08)
  • [28] Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria
    Baek, Rena
    Coughlan, Kimberly
    Jiang, Lei
    Liang, Min
    Ci, Lei
    Singh, Harkewal
    Zhang, Hannah
    Kaushal, Neeraj
    Rajlic, Ivana Liric
    Van, Linh
    Dimen, Rain
    Cavedon, Alexander
    Yin, Ling
    Rice, Lisa
    Frassetto, Andrea
    Guey, Lin
    Finn, Patrick
    Martini, Paolo G. V.
    NATURE COMMUNICATIONS, 2024, 15 (01)
  • [29] Factors influencing in-hospital death for pediatric patients with isolated methylmalonic acidemia: a nationwide inpatient database analysis
    Jiang, Yi-Zhou
    Shi, Yu
    Shi, Ying
    Gan, Lan-Xia
    Kong, Yuan-Yuan
    Sun, Li-Ying
    Wang, Hai-Bo
    Zhu, Zhi-Jun
    ORPHANET JOURNAL OF RARE DISEASES, 2020, 15 (01)
  • [30] Optimizing nutrition in propionic acidemia (PA) and methylmalonic acidemia (MMA) infants: A focus on breastfeeding
    Starin, Danielle
    MacLeod, Erin
    Chapman, Kimberly A.
    MOLECULAR GENETICS AND METABOLISM, 2024, 141 (04)