BibTex RIS Kaynak Göster

Isolated sulfite oxidase deficiency Case Report

Yıl 2005, Cilt: 40 Sayı: 2, 105 - 108, 01.06.2005

Nesrin Şenbil Mahya Sultan Tosun Fatih Süheyl Ezgü Yahya Kemal Yavuz Gürer

https://izlik.org/JA24WM27CB

Anahtar Kelimeler

-

Kaynakça

  • Johnson JL, Wuebbens MM, Mandell R, Shih VE. Molybdenum cofactor deficiency in a patient previously chracterized as deficient in sulfite oxidase. Biochem Med 1998; 40: 86- 93. 11. Etukudo MH, Agbedana EO, Akinyinka OO, Osifo BO. Plasma electrolytes, total cholesterol, liver enzymes, and selected antioxidant status in protein energy malnutrition. Afr J Med Sci 1999; 28: 81- 5.
  • Chan KY, Li CK, Lai CK, Ng SF, Chan AYW. Infantile isolated sulphite oxidase deficiency in a Chinese family: a rare neurodege- nerative disorder. Hong Kong Med J 2002; 8: 279- 82.
  • Appignani BA, Kaye EM, Wolpert SM. CT and MR appearance of the brain in two children with molybdenum cofactor deficiency. Am J Neuroradiol 1996; 17: 317- 20.
  • Topcu M, Coskun T, Haliloglu G, Saatci I. Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopaty. J Child Neurol 2001; 16: 264- 70.
  • Koch H. Dipsticks and convulsions. Lancet 1998; 352: 1824.
  • Coşkun T, Yetük M, Yurdakök M, Tekinalp G. Blood uric acid as a pointer to the diagnosis of molybdenum cofactor deficiency. Acta Paediatr 1998; 87: 714- 5.
  • Tauati G, Rusthoven E, Depont E, et al. Dietary therapy in two patients with a mild form sulphite oxidase deficiency. Evidence for clinical and biological improvement. J Inherit Metab Dis 2000; 23: 45- 53.
  • Mg salınımı artar ATP azalır Enerji Yetmezliği
  • Sami Ulus Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi, Çocuk Nörolojisi Bölümü
  • Sami Ulus Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi
  • Gazi Üniversitesi Tıp Fakültesi, Pediatrik Metabolizma Bölümü 1. Rupar CA, Gillet J, Gordon BA et al. Isolated sulfite oxidase deficiency. Neuropediatrics 1996; 27: 299- 304. 2. Ezgü FS, Hasanoğlu A, Tümer L. Molibden kofaktör ve izole sülfit oksidaz eksikliği. T Klin J Pediatr 2001; 10: 113- 7. 3. Salman MS, Ackerley C, Senger C, Becker L. New insights into the neuropathogenesis of molybdenum cofactor deficiency. Can J Neurol Sci 2002; 29: 91- 6. 4.
  • Johnson JL, Wuebbens MM, Mandell R, Shih VE. Molybdenum cofactor deficiency in a patient previously chracterized as deficient in sulfite oxidase. Biochem Med 1998; 40: 86- 93.
  • Etukudo MH, Agbedana EO, Akinyinka OO, Osifo BO. Plasma electrolytes, total cholesterol, liver enzymes, and selected antioxidant status in protein energy malnutrition. Afr J Med Sci 1999; 28: 81- 5.
  • Chan KY, Li CK, Lai CK, Ng SF, Chan AYW. Infantile isolated sulphite oxidase deficiency in a Chinese family: a rare neurodege- nerative disorder. Hong Kong Med J 2002; 8: 279- 82.
  • Appignani BA, Kaye EM, Wolpert SM. CT and MR appearance of the brain in two children with molybdenum cofactor deficiency. Am J Neuroradiol 1996; 17: 317- 20.
  • Topcu M, Coskun T, Haliloglu G, Saatci I. Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopaty. J Child Neurol 2001; 16: 264- 70.
  • Koch H. Dipsticks and convulsions. Lancet 1998; 352: 1824.
  • Coşkun T, Yetük M, Yurdakök M, Tekinalp G. Blood uric acid as a pointer to the diagnosis of molybdenum cofactor deficiency. Acta Paediatr 1998; 87: 714- 5.
  • Tauati G, Rusthoven E, Depont E, et al. Dietary therapy in two patients with a mild form sulphite oxidase deficiency. Evidence for clinical and biological improvement. J Inherit Metab Dis 2000; 23: 45- 53.

İzole sülfit oksidaz eksikliği Olgu Sunumu

Yıl 2005, Cilt: 40 Sayı: 2, 105 - 108, 01.06.2005

Nesrin Şenbil Mahya Sultan Tosun Fatih Süheyl Ezgü Yahya Kemal Yavuz Gürer

https://izlik.org/JA24WM27CB

Anahtar Kelimeler

dirençli nöbet serum ürik asit sülfit oksidaz

Kaynakça

  • Johnson JL, Wuebbens MM, Mandell R, Shih VE. Molybdenum cofactor deficiency in a patient previously chracterized as deficient in sulfite oxidase. Biochem Med 1998; 40: 86- 93. 11. Etukudo MH, Agbedana EO, Akinyinka OO, Osifo BO. Plasma electrolytes, total cholesterol, liver enzymes, and selected antioxidant status in protein energy malnutrition. Afr J Med Sci 1999; 28: 81- 5.
  • Chan KY, Li CK, Lai CK, Ng SF, Chan AYW. Infantile isolated sulphite oxidase deficiency in a Chinese family: a rare neurodege- nerative disorder. Hong Kong Med J 2002; 8: 279- 82.
  • Appignani BA, Kaye EM, Wolpert SM. CT and MR appearance of the brain in two children with molybdenum cofactor deficiency. Am J Neuroradiol 1996; 17: 317- 20.
  • Topcu M, Coskun T, Haliloglu G, Saatci I. Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopaty. J Child Neurol 2001; 16: 264- 70.
  • Koch H. Dipsticks and convulsions. Lancet 1998; 352: 1824.
  • Coşkun T, Yetük M, Yurdakök M, Tekinalp G. Blood uric acid as a pointer to the diagnosis of molybdenum cofactor deficiency. Acta Paediatr 1998; 87: 714- 5.
  • Tauati G, Rusthoven E, Depont E, et al. Dietary therapy in two patients with a mild form sulphite oxidase deficiency. Evidence for clinical and biological improvement. J Inherit Metab Dis 2000; 23: 45- 53.
  • Mg salınımı artar ATP azalır Enerji Yetmezliği
  • Sami Ulus Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi, Çocuk Nörolojisi Bölümü
  • Sami Ulus Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi
  • Gazi Üniversitesi Tıp Fakültesi, Pediatrik Metabolizma Bölümü 1. Rupar CA, Gillet J, Gordon BA et al. Isolated sulfite oxidase deficiency. Neuropediatrics 1996; 27: 299- 304. 2. Ezgü FS, Hasanoğlu A, Tümer L. Molibden kofaktör ve izole sülfit oksidaz eksikliği. T Klin J Pediatr 2001; 10: 113- 7. 3. Salman MS, Ackerley C, Senger C, Becker L. New insights into the neuropathogenesis of molybdenum cofactor deficiency. Can J Neurol Sci 2002; 29: 91- 6. 4.
  • Johnson JL, Wuebbens MM, Mandell R, Shih VE. Molybdenum cofactor deficiency in a patient previously chracterized as deficient in sulfite oxidase. Biochem Med 1998; 40: 86- 93.
  • Etukudo MH, Agbedana EO, Akinyinka OO, Osifo BO. Plasma electrolytes, total cholesterol, liver enzymes, and selected antioxidant status in protein energy malnutrition. Afr J Med Sci 1999; 28: 81- 5.
  • Chan KY, Li CK, Lai CK, Ng SF, Chan AYW. Infantile isolated sulphite oxidase deficiency in a Chinese family: a rare neurodege- nerative disorder. Hong Kong Med J 2002; 8: 279- 82.
  • Appignani BA, Kaye EM, Wolpert SM. CT and MR appearance of the brain in two children with molybdenum cofactor deficiency. Am J Neuroradiol 1996; 17: 317- 20.
  • Topcu M, Coskun T, Haliloglu G, Saatci I. Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopaty. J Child Neurol 2001; 16: 264- 70.
  • Koch H. Dipsticks and convulsions. Lancet 1998; 352: 1824.
  • Coşkun T, Yetük M, Yurdakök M, Tekinalp G. Blood uric acid as a pointer to the diagnosis of molybdenum cofactor deficiency. Acta Paediatr 1998; 87: 714- 5.
  • Tauati G, Rusthoven E, Depont E, et al. Dietary therapy in two patients with a mild form sulphite oxidase deficiency. Evidence for clinical and biological improvement. J Inherit Metab Dis 2000; 23: 45- 53.
Toplam 19 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Yazarlar

Nesrin Şenbil Bu kişi benim

Mahya Sultan Tosun Bu kişi benim

Fatih Süheyl Ezgü Bu kişi benim

Yahya Kemal Yavuz Gürer Bu kişi benim

Yayımlanma Tarihi 1 Haziran 2005
IZ https://izlik.org/JA24WM27CB
Yayımlandığı Sayı Yıl 2005 Cilt: 40 Sayı: 2

Kaynak Göster

APA Şenbil, N., Tosun, M. S., Ezgü, F. S., & Gürer, Y. K. Y. (2005). İzole sülfit oksidaz eksikliği Olgu Sunumu. Türk Pediatri Arşivi, 40(2), 105-108. https://izlik.org/JA24WM27CB
AMA 1.Şenbil N, Tosun MS, Ezgü FS, Gürer YKY. İzole sülfit oksidaz eksikliği Olgu Sunumu. Türk Pediatri Arşivi. 2005;40(2):105-108. https://izlik.org/JA24WM27CB
Chicago Şenbil, Nesrin, Mahya Sultan Tosun, Fatih Süheyl Ezgü, ve Yahya Kemal Yavuz Gürer. 2005. “İzole sülfit oksidaz eksikliği Olgu Sunumu”. Türk Pediatri Arşivi 40 (2): 105-8. https://izlik.org/JA24WM27CB.
EndNote Şenbil N, Tosun MS, Ezgü FS, Gürer YKY (01 Haziran 2005) İzole sülfit oksidaz eksikliği Olgu Sunumu. Türk Pediatri Arşivi 40 2 105–108.
IEEE [1]N. Şenbil, M. S. Tosun, F. S. Ezgü, ve Y. K. Y. Gürer, “İzole sülfit oksidaz eksikliği Olgu Sunumu”, Türk Pediatri Arşivi, c. 40, sy 2, ss. 105–108, Haz. 2005, [çevrimiçi]. Erişim adresi: https://izlik.org/JA24WM27CB
ISNAD Şenbil, Nesrin - Tosun, Mahya Sultan - Ezgü, Fatih Süheyl - Gürer, Yahya Kemal Yavuz. “İzole sülfit oksidaz eksikliği Olgu Sunumu”. Türk Pediatri Arşivi 40/2 (01 Haziran 2005): 105-108. https://izlik.org/JA24WM27CB.
JAMA 1.Şenbil N, Tosun MS, Ezgü FS, Gürer YKY. İzole sülfit oksidaz eksikliği Olgu Sunumu. Türk Pediatri Arşivi. 2005;40:105–108.
MLA Şenbil, Nesrin, vd. “İzole sülfit oksidaz eksikliği Olgu Sunumu”. Türk Pediatri Arşivi, c. 40, sy 2, Haziran 2005, ss. 105-8, https://izlik.org/JA24WM27CB.
Vancouver 1.Nesrin Şenbil, Mahya Sultan Tosun, Fatih Süheyl Ezgü, Yahya Kemal Yavuz Gürer. İzole sülfit oksidaz eksikliği Olgu Sunumu. Türk Pediatri Arşivi [Internet]. 01 Haziran 2005;40(2):105-8. Erişim adresi: https://izlik.org/JA24WM27CB