Case Reports
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- 作者：Mohammed Ramzan (1)
Satya Prakash Yadav (1) (2)
Rajesh Joshi (3) (5)
Dhanjit Das (4)
Parag Tamhankar (4)
Shakil Shaikh (3)
Amit Agrawal (6) (7)
Jyotsna Shrivastava (6)
Akhil Singh (6)
Shyama Choudhary (10) (8)
Pramod K. Berwal (8)
Satyendra Khichar (9)
Parasmal Baid (8)
T. K. Shruthi (11) (13)
S. Shuba (11)
P. S. Rajakumar (11)
S. Chitrambalam (12) - 刊名：Indian Pediatrics
- 出版年：2014
- 出版时间：May 2014
- 年：2014
- 卷：51
- 期：5
- 页码：397-406
- 全文大小：
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11. Bose HS, Sugawara T, Strauss JF 3rd, Miller WL. International Congenital Lipoid Adrenal Hyperplasia Consortium. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med. 1996;335:1870鈥?878. CrossRef
12. Bhangoo A, Gu WX, Pavlakis S, Anhalt H, Heier L, Ten S, / et al. Phenotypic features associated with mutations in steroidogenic acute regulatory protein. J Clin Endocrinol Metab. 2005;90:6303鈥?309. CrossRef
13. Nakae J, Tajima T, Sugawara T, Arakane F, Hanaki K, Hotsubo T, / et al. Analysis of the steroidogenic acute regulatory protein (STAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia. Hum Mol Genet. 1997;6:571鈥?76. CrossRef
14. Chen X, Baker BY, Abduljabbar MA, Miller WL. A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings. J Clin Endocrinol Metab. 2005;90:835鈥?40. CrossRef
15. Baker BY, Lin L, Kim CJ, Raza J, Smith CP, Miller WL, / et al. Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. J Clin Endocrinol Metab. 2006;91:4781鈥?785. CrossRef
16. Lekarev O, Mallet D, Yuen T, Morel Y, New MI. Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene. Eur J Pediatr. 2012;171:787鈥?93. CrossRef
17. Baquedano MS, Guercio G, Marino R, Berenssztein E, Costanzo M, Bailez M, / et al. Unique dominant negative mutation in the N-terminal mitochondrial targeting sequence of StAR, causing a variant form of congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab. 2013;98:153鈥?61. CrossRef
18. Abe K, Aizawa T, Maebayashi T, Nakayama H, Sugitani M Sakaguchi M, / et al. Isolated tuberculous liver abscess invading the abdominal wall: report of a case. Surgery Today. 2011;41:741鈥?44. CrossRef
19. Desai N, Patil S, Thakur BS, Das HS, Manjunath SM, Sawant P. Abdominal wall abscess secondary to subcapsular tubercular liver abscess. Indian J Gastroenterol. 2003;22:190鈥?91.
20. Gupta G, Nijhawan S, Katiyar P, Mathur A. Primary tubercular liver abscess rupture leading to parietal wall abscess: A rare disease with a rare complication. J Postgrad Med. 2011;57:350鈥?52. CrossRef
21. Mohanty D, Jain BK, Gupta A, Agrawal V. Chest wall abscess: An atypical presentation of isolated tuberculous liver abscess. Acta Biomed. 2009;80:77鈥?9.
22. Olivieri NF, Weatherall DJ. Thalassemias. / In: Arceci RJ, Hann IM, Smith OP, / eds. Pediatric Hematology. 3rd ed. Oxford, UK: Blackwell Publishing Ltd; 2006. p. 281鈥?04. CrossRef
23. Farmakis D, Giakoumis A, Polymeropoulos E, Aessopos A. Pathogenetic aspects of immune deficiency associated with beta-thalassemia. Med Sci Monit. 2003;9:19鈥?2.
24. Sherlock S, Dooley J. Tuberculosis of liver. / In: Sherlock (Ed), Diseases of the Liver and Biliary System, 11th edition, Oxford: Blackwell Science, 2002. p. 501.
25. Chaudhary A, Wakhlu A. Isolated tubercular liver abscess in pediatric age group. Int J Trop Med. 2005;2:2.
26. Wang SC, Lin KH, Chem JP, Lu MY, Jou ST, Lin DT, / et al. Severe bacterial infection in transfusion-dependent patients with thalassemia major. Clin Infect Dis. 2003;37:984鈥?88. CrossRef
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29. Grom AA. Macrophage activation syndrome and reactive hemophagocytic lymphohistiocytosis: the same entities? Curr Opin Rheumatol. 2003;15:587鈥?90. CrossRef
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35. Makay B, Yilmaz S, T眉rkyilmaz Z, Unal N, Oren H, Unsal E. Etanercept for therapy resistant macrophage activation syndrome. Pediatr Blood Cancer. 2008;50:419鈥?21. CrossRef
36. Dalmau J, Gleichman AJ, Hughes EG, Rossi JE, Peng X, Lai M, / et al. Anti-NMDA receptor encephalitis: case series and analysis of the effects of antibodies. Lancet Neurol. 2008;7:1091鈥?098. CrossRef
37. Armangue T, Titulaer MJ, Malaga I, Bataller L, Gabilondo I, Graus F, / et al. Pediatric anti NMDAR encephalitis: clinical analysis and novel findings in a series of 20 patients. J Pediatr. 2013;162:850鈥?56. CrossRef
38. Ishiura H, Matsuda S, Higashihara M, Hasegawa M, Hida A, Hanajima R, / et al. Response of anti-NMDA receptor encephalitis without tumor to immunotherapy including rituximab. Neurology. 2008;71:1921鈥?926. CrossRef
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40. Praneeta D, Tamma MD, Allison L. Behaviour outbursts orofacial dyskinesias and CSF pleocytosis in a healthy child. Pediatrics. 2011;12-8:2242鈥?245. - 作者单位：Mohammed Ramzan (1)
Satya Prakash Yadav (1) (2)
Rajesh Joshi (3) (5)
Dhanjit Das (4)
Parag Tamhankar (4)
Shakil Shaikh (3)
Amit Agrawal (6) (7)
Jyotsna Shrivastava (6)
Akhil Singh (6)
Shyama Choudhary (10) (8)
Pramod K. Berwal (8)
Satyendra Khichar (9)
Parasmal Baid (8)
T. K. Shruthi (11) (13)
S. Shuba (11)
P. S. Rajakumar (11)
S. Chitrambalam (12)
1. Pediatric Hematology Oncology and BMT Unit, Department of Pediatrics, Fortis Memorial Research Institute, Gurgaon, Haryana, India
2. Department of Pediatrics, Fortis Memorial Research Institute, Gurgaon, Haryana, India
3. Department of Pediatrics, BJ Wadia hospital for Children, Mumbai, India
5. D/3, Om Parshvanath Apartments, Saibaba Nagar, Borivali (West), Mumbai, 400 092, India
4. Genetic Research Centre, NIRRH, Parel, Mumbai, India
6. Department of Pediatrics, Gandhi Medical College and Kamla Nehru Hospital, Bhopal, MP, India
7. 28, Ravidas Nagar, Near Nizamuddin Colony, Indrapuri, Bhopal, MP, 462 023, India
10. PBM Hospital, 77, PG Hostel, Bikaner, 334001, Rajasthan, India
8. Department of Pediatrics, SP Medical College, Bikaner, Rajasthan, India
9. Department of Medicine, SP Medical College, Bikaner, Rajasthan, India
11. Department of Pediatrics, Sri Ramachandra Medical College, Chennai, Tamil Nadu, India
13. Department of Pediatrics, SRMC and RI, Porur, Chennai, 600 116, India
12. Department of Neurology, Sri Ramachandra Medical College, Chennai, Tamil Nadu, India - ISSN：0974-7559
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