MOLECULAR DIAGNOSIS OF BARTH SYNDROME FIRST CASE REPORT FROM INDIA

被引：0
|
作者：
Bijarnia-Mahay, S. [1 ]
Borkar, M. [1 ]
Kotecha, U. [1 ]
Saxena, R. [1 ]
Verma, I. C. [1 ]
机构：
[1] Sir Ganga Ram Hospit, Ctr Med Genet, New Delhi, India
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2012年 / 35卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：S59 / S59
页数：1
相关论文
共 50 条
  • [41] Molecular Diagnosis of Shwachman-Diamond Syndrome Presenting with Pancytopenia at an Early Age: The First Report from Turkey
    Muge Gokce
    Murat Tuncer
    Mualla Cetin
    Fatma Gumruk
    Indian Journal of Hematology and Blood Transfusion, 2013, 29 : 161 - 163
  • [42] Saliva for diagnosis of SARS-CoV-2: First report from India
    Bhattacharya, Debdutta
    Parai, Debaprasad
    Rout, Usha K.
    Dash, Pujarini
    Nanda, Rashmi R.
    Dash, Girish C.
    Kanungo, Srikanta
    Palo, Subrata K.
    Giri, Sidhartha
    Choudhary, Hari R.
    Kshatri, Jaya S.
    Turuk, Jyotirmayee
    Mishra, Bijay K.
    Lenka, Rajesh K.
    Dash, Saroj
    Pati, Sanghamitra
    JOURNAL OF MEDICAL VIROLOGY, 2021, 93 (04) : 2529 - 2533
  • [43] PhenobarbitalHaemophagocytosis syndrome (first report): case report
    Reactions Weekly, 2016, 1604 (1) : 138 - 138
  • [44] Linezolid resistant Staphylococcus haemolyticus:First case report from India
    Varsha Gupta
    Shivani Garg
    Ruby Jain
    Sudhir Garg
    Jagdish Chander
    Asian Pacific Journal of Tropical Medicine, 2012, (10) : 837 - 838
  • [45] Balantidium Coli liver abscess: first case report from India
    Kapur P.
    Das A.K.
    Kapur P.R.
    Dudeja M.
    Journal of Parasitic Diseases, 2016, 40 (1) : 138 - 140
  • [46] Linezolid resistant Staphylococcus haemolyticus: First case report from India
    Gupta, Varsha
    Garg, Shivani
    Jain, Ruby
    Garg, Sudhir
    Chander, Jagdish
    ASIAN PACIFIC JOURNAL OF TROPICAL MEDICINE, 2012, 5 (10) : 837 - 838
  • [47] First case report of Nager syndrome patient from Georgia
    Tkemaladze, Tinatin
    Bregvadze, Kakha
    Kvaratskhelia, Eka
    Kapoor, Manish Aaryan
    Orjonikidze, Nino
    Abzianidze, Elene
    SAGE OPEN MEDICAL CASE REPORTS, 2022, 10
  • [48] Perry Syndrome with a Novel Mutation and a Rare Presentation: First Report from India
    Krishnan, Pramod
    Sarma, Gosala R. K.
    Murgod, Uday
    Srinivas, Murali
    Roy, Ajit K.
    ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2022, 25 (04) : 703 - 706
  • [49] Expanded-access use of elamipretide in a newborn with Barth syndrome: a case report
    Ortmann, Laura
    Velasco, Danita
    Cole, Jason
    EUROPEAN HEART JOURNAL-CASE REPORTS, 2025, 9 (02)
  • [50] Case Report: A Chinese child with Barth syndrome caused by a novel TAFAZZIN mutation
    Che, Mingxuan
    Li, Fuhai
    Jia, Yaning
    Liu, Qingzheng
    Hu, Jian
    Zhang, Jidong
    Liu, Shiguo
    FRONTIERS IN CARDIOVASCULAR MEDICINE, 2024, 11
12345