Infant with Type A Niemann Pick Disease and Undetectable Niemann Pick Cells in Bone Marrow
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- 作者：Sharmila Banerjee Mukherjee (1) (4)
Meenu Pandey (1)
Seema Kapoor (2)
T Padma Priya (3) - 关键词：Bone marrow ; Diagnosis ; Niemann pick disease type A ; Storage cells
- 刊名：Indian Pediatrics
- 出版年：2012
- 出版时间：June 2012
- 年：2012
- 卷：49
- 期：6
- 页码：490-492
- 全文大小：421KB
- 参考文献：1. McGovern MM, Aron A, Brodie SE, Desnick RJ, Wasserstein MP. Natural history of Type A Niemann-Pick disease: Possible endpoints for therapeutic trials. Neurology. 2006; 66:228鈥?32. CrossRef
2. Rodrigues AF, Gray RG, Preece MA, Brown R, Hill FG, Baumann U, / et al. The usefulness of bone marrow aspiration in the diagnosis of Niemann-Pick disease type C in infantile liver disease. Arch Dis Child. 2006;91:841鈥?44. CrossRef
3. Ricci V, Stroppiano M, Corsolini F, Di Rocco M, Parenti G, Regis S, / et al. Screening of 25 Italian patients with Niemann Pick A reveals fourteen new mutations, one common and three private in SMPD1. Hum Mutat. 2004;24:105. CrossRef
4. Sikora J, Pavlu-Pereira H, Elleder M, Roelof H, Wever RA. Seven novel acid sphingomyelinase gene mutations in Niemann Pick type A and B patients. Ann Hum Genet. 2003;67:63鈥?0. CrossRef
5. Takahashi T, Suchi M, Desnick RJ, Takada G, Schuchman EH. Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease: molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms. J. Biol. Chem. 1992;267:12552鈥?2558.
6. Schuchman E. Two new mutations in the Acid sphingomyelinase gene causing type A niemann-Pick Disease: N389T and R441X. Hum Mutat. 1995;6:352鈥?54. CrossRef
7. Chamoles NA, Blanco M, Gaggioli D, Casentini C. Gaucher and Niemann-Pick diseases鈥攅nzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. Clin Chim Acta. 2002;317:191鈥?97. CrossRef - 作者单位：Sharmila Banerjee Mukherjee (1) (4)
Meenu Pandey (1)
Seema Kapoor (2)
T Padma Priya (3)
1. Department of Pediatrics, Lady Hardinge Medical College and associated Kalawati Saran Children Hospital, New Delhi, India
4. Department of Pediatrics, Lady Hardinge Medical College, New Delhi, India
2. Department of Pediatrics, Maulana Azad Medical College and associated Lok Nayak Hospital, New Delhi, India
3. Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India
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