Development of a metabolic decompensation event severity score for patients with propionic acidemia or methylmalonic acidemia

被引：0
|
作者：
Schwartz, Ethan J. [1 ]
Longo, Nicola [2 ]
Perera, Sue [3 ]
Dionisi-Vici, Carlo [4 ]
Leuchars, Mary [3 ]
Burrow, Andrew [5 ]
Ajayi, Temitayo [3 ]
de las Heras, Javier [6 ,7 ]
Banerjee, Geetanjoli [3 ]
Prada, Carlos [8 ]
Alex Bellenger, M. [1 ]
Moshkovich, Olga [1 ]
Sikirica, Vanja [3 ]
机构：
[1] ICON Insights, Evidence & Value, Raleigh, NC USA
[2] Univ Utah, Salt Lake City, UT USA
[3] Moderna Inc, Cambridge, MA USA
[4] Bambino Gesu Childrens Hosp IRCCS, Div Metab Dis, Rome, Italy
[5] UAMS, Dept Pediat, Little Rock, AR USA
[6] Biobizkaia Hlth Res Inst, Hosp Univ Cruces, Bilbao, Spain
[7] Univ Basque Country, Bilbao, Spain
[8] Lurie Childrens Hosp, Chicago, IL USA
来源：
MOLECULAR GENETICS AND METABOLISM | 2024年 / 141卷 / 04期
关键词：
D O I：
10.1016/j.ymgme.2024.108258
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Poster # 0
引用
收藏
页数：2
相关论文
共 50 条
  • [1] HEMODIALYSIS FOR METABOLIC DECOMPENSATION IN PROPIONIC ACIDEMIA
    ROTH, B
    YOUNOSSIHARTENSTEIN, A
    SKOPNIK, H
    LEONARD, JV
    LEHNERT, W
    JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 (02) : 147 - 151
  • [2] Optic neuropathy in methylmalonic acidemia and propionic acidemia
    Alvarez, Lidia Martinez
    Jameson, Elisabeth
    Parry, Neil R. A.
    Lloyd, Chris
    Ashworth, Jane L.
    BRITISH JOURNAL OF OPHTHALMOLOGY, 2016, 100 (01) : 98 - 104
  • [3] Tricarboxylic Acid Cycle Enzymes in Patients with Methylmalonic Acidemia and Propionic Acidemia
    Wongkittichote, Parith
    Cunningham, Gary
    Pumbo, Elena
    Lee, Fiona
    Summar, Marshall L.
    Chapman, Kimberly A.
    MOLECULAR GENETICS AND METABOLISM, 2018, 123 (03) : 277 - 277
  • [4] Development of a signs and symptoms outcome measure for caregivers of patients with methylmalonic acidemia and propionic acidemia (MMAPAQ)
    Sikirica, Vanja
    Schwartz, Ethan J.
    Vockley, Jerry
    Stagni, Kathy
    Bellenger, M. Alex
    Banerjee, Geetanjoli
    Durgam, Neha
    Moshkovich, Olga
    MOLECULAR GENETICS AND METABOLISM, 2024, 143 (1-2)
  • [5] PARENTERAL-NUTRITION IN PROPIONIC ACIDEMIA AND METHYLMALONIC ACIDEMIA
    WALTER, JH
    LEONARD, JV
    THOMPSON, GN
    HALLIDAY, D
    JOURNAL OF PEDIATRICS, 1990, 117 (02): : 338 - 339
  • [6] 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
  • [7] EMERGENCY PRESENTATIONS OF PATIENTS WITH METHYLMALONIC ACIDEMIA, PROPIONIC ACIDEMIA AND BRANCHED-CHAIN AMINO ACIDEMIA (MSUD)
    HENRIQUEZ, H
    ELDIN, A
    OZAND, PT
    SUBRAMANYAM, SB
    ALGAIN, SI
    BRAIN & DEVELOPMENT, 1994, 16 : 86 - 93
  • [8] PARENTERAL-NUTRITION IN PROPIONIC ACIDEMIA AND METHYLMALONIC ACIDEMIA - REPLY
    KAHLER, SG
    JOURNAL OF PEDIATRICS, 1990, 117 (02): : 339 - 339
  • [9] PLASMA METHYLMALONIC ACID CONCENTRATION IS POSITIVELY ASSOCIATED WITH METABOLIC DECOMPENSATION EVENTS IN PATIENTS WITH METHYLMALONIC ACIDEMIA
    Liang, M.
    Calderon, J.
    Ivaturi, V.
    Carillo, N.
    Attarwala, H.
    CLINICAL PHARMACOLOGY & THERAPEUTICS, 2023, 113 : S39 - S40
  • [10] Living donor liver transplantation for methylmalonic acidemia and propionic acidemia
    Wan, P.
    Qiu, B.
    Feng, M.
    Xue, F.
    Xia, L.
    Luo, Y.
    Lu, Y.
    Zhou, T.
    Zhang, J.
    Xia, Q.
    TRANSPLANTATION, 2019, 103 (08) : 243 - 243
12345