PORTUGUESE CLINICAL PRACTICE AND COSTS IN THE TREATMENT OF ACID SPHINGOMYELINASE DEFICIENCY DISEASE

被引：0
|
作者：
Miguel, Silva L. [1 ]
Carvalho, P. [1 ]
Oliveira, A. [2 ]
Guimas, A. [3 ]
Teles, E. Leao [4 ]
Ferreira, S. [5 ]
Bulhosa, C. [1 ]
Pinheiro, B. [6 ]
Borges, M. [7 ]
机构：
[1] IQVIA Portugal, Lisbon, Portugal
[2] Ctr Hosp Univ Lisboa Norte, Lisbon, Portugal
[3] Ctr Hosp Univ Santo Antonio, Porto, Portugal
[4] Ctr Hosp Univ Sao Joao, Porto, Portugal
[5] Ctr Hosp Univ Coimbra, Coimbra, Portugal
[6] IQVIA Portugal, Oeiras 13, Portugal
[7] Univ Lisbon, Lab Farmacol Clin & Terapeut, Fac Med, Lisbon, Portugal
来源：
VALUE IN HEALTH | 2023年 / 26卷 / 12期
关键词：
D O I：
暂无
中图分类号：
F [经济];
学科分类号：
02 ;
摘要：
HTA26
引用
收藏
页码：S325 / S325
页数：1
相关论文
共 50 条
  • [31] Consensus recommendation on a diagnostic guideline for acid sphingomyelinase deficiency
    Wasserstein, Melissa
    Dionisi-Vici, Carlo
    Giugliani, Roberto
    Hwu, Paul
    Lidove, Olivier
    Lukacs, Zoltan
    Mengel, Eugen
    Mistry, Pramod
    Schuchman, Edward
    McGovern, Margaret
    MOLECULAR GENETICS AND METABOLISM, 2017, 120 (1-2) : S138 - S138
  • [32] Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
    McGovern, Margaret M.
    Dionisi-Vici, Carlo
    Giugliani, Roberto
    Hwu, Paul
    Lidove, Olivier
    Lukacs, Zoltan
    Mengel, Karl Eugen
    Mistry, Pramod K.
    Schuchman, Edward H.
    Wasserstein, Melissa P.
    GENETICS IN MEDICINE, 2017, 19 (09) : 967 - 974
  • [33] Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency
    Breilyn, Margo Sheck
    Zhang, Wenyue
    Yu, Chunli
    Wasserstein, Melissa P.
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2021, 28
  • [34] Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency
    Maja Di Rocco
    Carlo Dionisi Vici
    Alberto Burlina
    Francesco Venturelli
    Agata Fiumara
    Simona Fecarotta
    Maria Alice Donati
    Marco Spada
    Daniela Concolino
    Andrea Pession
    Orphanet Journal of Rare Diseases, 18
  • [35] Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency
    Di Rocco, Maja
    Vici, Carlo Dionisi
    Burlina, Alberto
    Venturelli, Francesco
    Fiumara, Agata
    Fecarotta, Simona
    Donati, Maria Alice
    Spada, Marco
    Concolino, Daniela
    Pession, Andrea
    ORPHANET JOURNAL OF RARE DISEASES, 2023, 18 (01)
  • [36] MOLECULAR ANALYSIS OF THE ACID SPHINGOMYELINASE DEFICIENCY IN A FAMILY WITH AN INTERMEDIATE FORM OF NIEMANN-PICK DISEASE
    FERLINZ, K
    HURWITZ, R
    WEILER, M
    SUZUKI, K
    SANDHOFF, K
    VANIER, MT
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 56 (06) : 1343 - 1349
  • [37] The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency
    Deodato, Federica
    Boenzi, Sara
    Taurisano, Roberta
    Semeraro, Michela
    Sacchetti, Elisa
    Carrozzo, Rosalba
    Dionisi-Vici, Carlo
    CLINICA CHIMICA ACTA, 2018, 486 : 387 - 394
  • [38] A Continuum of Histopathologic Disease is Present in Adults with Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B)
    Thurberg, Beth
    Wasserstein, Melissa
    Schiano, Thomas
    Cox, Gerald
    McGovern, Margaret
    MOLECULAR GENETICS AND METABOLISM, 2012, 105 (02) : S60 - S60
  • [39] Periodontal condition and treatment in a patient with rare systemic condition: A case report for acid sphingomyelinase deficiency
    Bitencourt, Fernando Valentim
    Bender, Claubia Viegas
    Fiorini, Tiago
    Gomes, Sabrina Carvalho
    Visioli, Fernanda
    Angst, Patricia Daniela Melchiors
    SPECIAL CARE IN DENTISTRY, 2021, 41 (01) : 103 - 110
  • [40] Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective
    Arslan, Nur
    Coker, Mahmut
    Gokcay, Gulden Fatma
    Kiykim, Ertugrul
    Mungan, Halise Neslihan Onenli
    Ezgu, Fatih
    FRONTIERS IN PEDIATRICS, 2023, 11
12345