Emerging trends in transplantation of inherited metabolic diseases

被引：54
作者：
Prasad, V. K. [1 ]
Kurtzberg, J. [1 ]
机构：
[1] Duke Univ, Med Ctr, Pediat Blood & Marrow Transplant Program, Durham, NC 27710 USA
来源：
BONE MARROW TRANSPLANTATION | 2008年 / 41卷 / 02期
关键词：
inherited metabolic diseases; lysosomal and peroxisomal storage disease; hematopoietic stem cell transplantation; umbilical cord blood transplantation;
D O I：
10.1038/sj.bmt.1705970
中图分类号：
Q6 [生物物理学];
学科分类号：
071011 ;
摘要：
Allogeneic hematopoietic stem cell transplantation (HSCT) can prolong life and improve its quality in patients with inherited metabolic diseases. HSCT offers a permanent source of enzyme replacement therapy and also might mediate nonhematopoietic cell regeneration or repair. Unrelated cord blood is an exciting newer graft source for treatment of patients with these fatal disorders, providing increased access to donors and significant clinical efficacy, particularly when transplantation is performed in early stages. Pre-transplant performance status is highly predictive of overall survival.
引用
收藏
页码：99 / 108
页数：10
相关论文
共 50 条
  • [21] Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review
    Yannick Moutapam-Ngamby—Adriaansen
    François Maillot
    François Labarthe
    Bertrand Lioger
    Orphanet Journal of Rare Diseases, 19
  • [22] CLINICAL SUSPICION AND INITIAL DIAGNOSTIC STUDIES IN INHERITED METABOLIC DISEASES
    Lopez-pardo, B. Martin
    Pintos, P. Sanchez
    Pico, M. l. Couce
    BOLETIN DE PEDIATRIA, 2024, 64 (267): : 29 - 38
  • [23] Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review
    Moutapam-Ngamby-Adriaansen, Yannick
    Maillot, Francois
    Labarthe, Francois
    Lioger, Bertrand
    ORPHANET JOURNAL OF RARE DISEASES, 2024, 19 (01)
  • [24] Experiences of caregivers of children with inherited metabolic diseases: a qualitative study
    Siddiq, Shabnaz
    Wilson, Brenda J.
    Graham, Ian D.
    Lamoureux, Monica
    Khangura, Sara D.
    Tingley, Kylie
    Tessier, Laure
    Chakraborty, Pranesh
    Coyle, Doug
    Dyack, Sarah
    Gillis, Jane
    Greenberg, Cheryl
    Hayeems, Robin Z.
    Jain-Ghai, Shailly
    Kronick, Jonathan B.
    Laberge, Anne-Marie
    Little, Julian
    Mitchell, John J.
    Prasad, Chitra
    Siriwardena, Komudi
    Sparkes, Rebecca
    Speechley, Kathy N.
    Stockler, Sylvia
    Trakadis, Yannis
    Wafa, Sarah
    Walia, Jagdeep
    Wilson, Kumanan
    Yuskiv, Nataliya
    Potter, Beth K.
    ORPHANET JOURNAL OF RARE DISEASES, 2016, 11 : 1 - 10
  • [25] The significance of machine learning in neonatal screening for inherited metabolic diseases
    Yang, Xiangchun
    Ding, Shuxia
    Zhang, Jianping
    Hu, Zhuojie
    Zhuang, Danyan
    Wang, Fei
    Wu, Shanshan
    Chen, Changshui
    Li, Haibo
    FRONTIERS IN PEDIATRICS, 2024, 12
  • [26] Experiences of caregivers of children with inherited metabolic diseases: a qualitative study
    Shabnaz Siddiq
    Brenda J. Wilson
    Ian D. Graham
    Monica Lamoureux
    Sara D. Khangura
    Kylie Tingley
    Laure Tessier
    Pranesh Chakraborty
    Doug Coyle
    Sarah Dyack
    Jane Gillis
    Cheryl Greenberg
    Robin Z. Hayeems
    Shailly Jain-Ghai
    Jonathan B. Kronick
    Anne-Marie Laberge
    Julian Little
    John J. Mitchell
    Chitra Prasad
    Komudi Siriwardena
    Rebecca Sparkes
    Kathy N. Speechley
    Sylvia Stockler
    Yannis Trakadis
    Sarah Wafa
    Jagdeep Walia
    Kumanan Wilson
    Nataliya Yuskiv
    Beth K. Potter
    Orphanet Journal of Rare Diseases, 11
  • [27] Clinical and biochemical footprints of inherited metabolic diseases. IX. Metabolic ear disease
    Bakhos, David
    Blasco, Helene
    Galvin III, John J.
    Ferreira, Carlos R.
    Blau, Nenad
    MOLECULAR GENETICS AND METABOLISM, 2022, 137 (03) : 223 - 229
  • [28] Acute liver failure related to inherited metabolic diseases in young children
    Costa, Filipa Dias
    Moinho, Rita
    Ferreira, Sandra
    Garcia, Paula
    Diogo, Luisa
    Goncalves, Isabel
    Pinto, Carla
    ANALES DE PEDIATRIA, 2018, 88 (02): : 69 - 74
  • [29] Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network
    Kylie Tingley
    Monica Lamoureux
    Michael Pugliese
    Michael T. Geraghty
    Jonathan B. Kronick
    Beth K. Potter
    Doug Coyle
    Kumanan Wilson
    Michael Kowalski
    Valerie Austin
    Catherine Brunel-Guitton
    Daniela Buhas
    Alicia K. J. Chan
    Sarah Dyack
    Annette Feigenbaum
    Alette Giezen
    Sharan Goobie
    Cheryl R. Greenberg
    Shailly Jain Ghai
    Michal Inbar-Feigenberg
    Natalya Karp
    Mariya Kozenko
    Erica Langley
    Matthew Lines
    Julian Little
    Jennifer MacKenzie
    Bruno Maranda
    Saadet Mercimek-Andrews
    Connie Mohan
    Aizeddin Mhanni
    Grant Mitchell
    John J. Mitchell
    Laura Nagy
    Melanie Napier
    Amy Pender
    Murray Potter
    Chitra Prasad
    Suzanne Ratko
    Ramona Salvarinova
    Andreas Schulze
    Komudi Siriwardena
    Neal Sondheimer
    Rebecca Sparkes
    Sylvia Stockler-Ipsiroglu
    Yannis Trakadis
    Lesley Turner
    Clara Van Karnebeek
    Hilary Vallance
    Anthony Vandersteen
    Jagdeep Walia
    Orphanet Journal of Rare Diseases, 15
  • [30] Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network
    Tingley, Kylie
    Lamoureux, Monica
    Pugliese, Michael
    Geraghty, Michael T.
    Kronick, Jonathan B.
    Potter, Beth K.
    Coyle, Doug
    Wilson, Kumanan
    Kowalski, Michael
    Austin, Valerie
    Brunel-Guitton, Catherine
    Buhas, Daniela
    Chan, Alicia K. J.
    Dyack, Sarah
    Feigenbaum, Annette
    Giezen, Alette
    Goobie, Sharan
    Greenberg, Cheryl R.
    Ghai, Shailly Jain
    Inbar-Feigenberg, Michal
    Karp, Natalya
    Kozenko, Mariya
    Langley, Erica
    Lines, Matthew
    Little, Julian
    MacKenzie, Jennifer
    Maranda, Bruno
    Mercimek-Andrews, Saadet
    Mohan, Connie
    Mhanni, Aizeddin
    Mitchell, Grant
    Mitchell, John J.
    Nagy, Laura
    Napier, Melanie
    Pender, Amy
    Potter, Murray
    Prasad, Chitra
    Ratko, Suzanne
    Salvarinova, Ramona
    Schulze, Andreas
    Siriwardena, Komudi
    Sondheimer, Neal
    Sparkes, Rebecca
    Stockler-Ipsiroglu, Sylvia
    Trakadis, Yannis
    Turner, Lesley
    Van Karnebeek, Clara
    Vallance, Hilary
    Vandersteen, Anthony
    Walia, Jagdeep
    ORPHANET JOURNAL OF RARE DISEASES, 2020, 15 (01)
12345