New clinical and molecular insights on Barth syndrome

被引：0
|
作者：
Lorenzo Ferri
Maria Alice Donati
Silvia Funghini
Sabrina Malvagia
Serena Catarzi
Licia Lugli
Luca Ragni
Enrico Bertini
Frédéréc M Vaz
David N Cooper
Renzo Guerrini
Amelia Morrone
机构：
[1] University of Florence and Paediatric Neurology Unit and Laboratories,Department of Neurosciences, Psychology, Pharmacology and Child Health
[2] Meyer Children’s Hospital,Metabolic and Muscular Unit, Neuroscience Department
[3] Meyer Childrens’ Hospital,Paediatric Neurology Unit and Laboratories, Neuroscience Department
[4] Meyer Children’s Hospital,Neonatology Unit, Department of Mother & Child
[5] University of Modena,Department of Neurosciences, Laboratory of Molecular Medicine
[6] University of Bologna and Azienda Ospedaliera S. Orsola Malpighi,undefined
[7] Bambino Gesu’ Children’s Research Hospital,undefined
[8] Department of Clinical Chemistry and Paediatrics,undefined
[9] Institute of Medical Genetics,undefined
[10] School of Medicine,undefined
[11] Cardiff University,undefined
[12] IRRCS,undefined
来源：
Orphanet Journal of Rare Diseases | / 8卷
关键词：
Barth syndrome; gene mutation; cardiomyopathy; Metabolic decompensation; Lactic acidosis; 3-methylglutaconic aciduria; Gross deletions; Metabolic cardiomyopathy;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [21] Current insights into the "antiphospholipid" syndrome: Clinical, immunological, and molecular aspects
    Kandiah, DA
    Sali, A
    Sheng, YH
    Victoria, EJ
    Marquis, DM
    Coutts, SM
    Krilis, SA
    ADVANCES IN IMMUNOLOGY, VOL 70, 1998, 70 : 507 - 563
  • [22] Fragile X syndrome - Molecular and clinical insights and treatment issues
    Hagerman, RJ
    WESTERN JOURNAL OF MEDICINE, 1997, 166 (02): : 129 - 137
  • [23] Clinical presentation and natural history of Barth Syndrome: An overview
    Taylor, Carolyn
    Rao, Emily S.
    Pierre, Germaine
    Chronopoulou, Estathia
    Hornby, Brittany
    Heyman, Andrea
    Vernon, Hilary J.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2022, 45 (01) : 7 - 16
  • [24] Cerebral cavernous malformation: new molecular and clinical insights
    Revencu, N.
    Vikkula, M.
    JOURNAL OF MEDICAL GENETICS, 2006, 43 (09) : 716 - 721
  • [25] Barth syndrome
    Jefferies, John L.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2013, 163 (03) : 198 - 205
  • [26] Barth syndrome
    Clarke, Sarah L. N.
    Bowron, Ann
    Gonzalez, Iris L.
    Groves, Sarah J.
    Newbury-Ecob, Ruth
    Clayton, Nicol
    Martin, Robin P.
    Tsai-Goodman, Beverly
    Garratt, Vanessa
    Ashworth, Michael
    Bowen, Valerie M.
    McCurdy, Katherine R.
    Damin, Michaela K.
    Spencer, Carolyn T.
    Toth, Matthew J.
    Kelly, Richard I.
    Steward, Colin G.
    ORPHANET JOURNAL OF RARE DISEASES, 2013, 8
  • [27] Barth syndrome
    Sarah LN Clarke
    Ann Bowron
    Iris L Gonzalez
    Sarah J Groves
    Ruth Newbury-Ecob
    Nicol Clayton
    Robin P Martin
    Beverly Tsai-Goodman
    Vanessa Garratt
    Michael Ashworth
    Valerie M Bowen
    Katherine R McCurdy
    Michaela K Damin
    Carolyn T Spencer
    Matthew J Toth
    Richard I Kelley
    Colin G Steward
    Orphanet Journal of Rare Diseases, 8
  • [28] The molecular biology of FMRP: new insights into fragile X syndrome
    Joel D. Richter
    Xinyu Zhao
    Nature Reviews Neuroscience, 2021, 22 : 209 - 222
  • [29] The molecular biology of FMRP: new insights into fragile X syndrome
    Richter, Joel D.
    Zhao, Xinyu
    NATURE REVIEWS NEUROSCIENCE, 2021, 22 (04) : 209 - 222
  • [30] WISKOTT-ALDRICH SYNDROME - NEW MOLECULAR AND BIOCHEMICAL INSIGHTS
    PEACOCKE, M
    SIMINOVITCH, KA
    JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 1992, 27 (04) : 507 - 519
12345