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A novel mutation in congenital glucose galactose malabsorption syndrome

Yıl 2018, Cilt: 43 Sayı: 4, 1062 - 1064, 29.12.2018
https://doi.org/10.17826/cumj.383030

Öz

*

Kaynakça

  • References 1. Turk E, Zabel B, Mundlos S, Dyer J, Wright EM. Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter. Nature 1991; 350: 354-356.
  • 2. Gök F, Aydın HI, Kurt I, Gökcay E, Maeda M, Kasahara M. A novel mutation of Na+/glucose cotransporter in a Turkish newborn with congenital glucose-galactose malabsorption. J Pediatr Gastroenterol Nutr 2005; 40: 508-511.
  • 3. Xin B, Wang H. Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish. Clin Genet. 2011; 79: 86-91.
  • 4. Lee WS, Tay CG, Nazrul N, Paed M, Chai PF. A case of neonatal diarrhoea caused by congenital glucosegalactose malabsorption. Med J Malaysia 2009; 64: 83-85.
  • 5. Abdullah AM, el-Mouzan MI, el Shiekh OK, al Mazyad A. Congenital glucose-galactose malabsorption in Arab children. J Pediatr Gastroenterol Nutr 1996; 23: 561- 564.
  • 6. Abad-Sinden A, Borowitz S, Meyers R, Sutphen J. Nutrition management of congenital glucose-galactose malabsorption: a case study. J Am Diet Assoc 1997; 97: 1417-1421.
  • 7. Douwes AC, van Caillie M, Fernandes J, Bijleveld CM, Desjeux JF. Interval breath hydrogen test in glucose galactose malabsorption. Eur J Pediatr 1981; 137: 273-276.
  • 8. Igarashi Y, Ohkohchi N, Kikuta A, Suzuki J, Tada K. Diagnosis of congenital glucose galactose malabsorption by measuring sugar- and amino acid-evoked potential differences in jejunum in vivo. J Pediatr Gastroenterol Nutr 1986; 5: 899-901.
  • 9. Soylu OB, Ecevit C, Altinöz S, et al. Nephrocalcinosis in glucose-galactose malabsorption: nephrocalcinosis and proximal tubular dysfunction in a young infant with a novel mutation of SGLT1. Eur J Pediatr 2008; 167: 1395-1398.
  • 10. Fiscaletti M, Lebel MJ, Alos N, Benoit G, Jantchou P. Two Cases of Mistaken Polyuria and Nephrocalcinosis in Infants with Glucose-Galactose Malabsorption: A Possible Role of 1,25(OH)2D3. Horm Res Paediatr. 2017; 87: 277-282.
  • 11. Assiri A, Saeed A, Alnimri A, Ahmad S, Saeed E, Jameel S. Five Arab children with glucose-galactose malabsorption. Paediatr Int Child Health 2013; 33: 108-110.
  • 12. Saadah Ol, Alghamdi SA, Sindi HH, Alhunaitti H, Bin-Taleb YY, Alhussaini BH. Congenital glucosegalactose malabsorption: a descriptive study of clinical characteristics and outcome from Western Saudi Arabia. Arab J Gastroenterol 2014; 15: 21-23.

Konjenital glukoz galaktoz malabsorbsiyonu sendromunda yeni bir mutasyon

Yıl 2018, Cilt: 43 Sayı: 4, 1062 - 1064, 29.12.2018
https://doi.org/10.17826/cumj.383030

Öz

*

Kaynakça

  • References 1. Turk E, Zabel B, Mundlos S, Dyer J, Wright EM. Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter. Nature 1991; 350: 354-356.
  • 2. Gök F, Aydın HI, Kurt I, Gökcay E, Maeda M, Kasahara M. A novel mutation of Na+/glucose cotransporter in a Turkish newborn with congenital glucose-galactose malabsorption. J Pediatr Gastroenterol Nutr 2005; 40: 508-511.
  • 3. Xin B, Wang H. Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish. Clin Genet. 2011; 79: 86-91.
  • 4. Lee WS, Tay CG, Nazrul N, Paed M, Chai PF. A case of neonatal diarrhoea caused by congenital glucosegalactose malabsorption. Med J Malaysia 2009; 64: 83-85.
  • 5. Abdullah AM, el-Mouzan MI, el Shiekh OK, al Mazyad A. Congenital glucose-galactose malabsorption in Arab children. J Pediatr Gastroenterol Nutr 1996; 23: 561- 564.
  • 6. Abad-Sinden A, Borowitz S, Meyers R, Sutphen J. Nutrition management of congenital glucose-galactose malabsorption: a case study. J Am Diet Assoc 1997; 97: 1417-1421.
  • 7. Douwes AC, van Caillie M, Fernandes J, Bijleveld CM, Desjeux JF. Interval breath hydrogen test in glucose galactose malabsorption. Eur J Pediatr 1981; 137: 273-276.
  • 8. Igarashi Y, Ohkohchi N, Kikuta A, Suzuki J, Tada K. Diagnosis of congenital glucose galactose malabsorption by measuring sugar- and amino acid-evoked potential differences in jejunum in vivo. J Pediatr Gastroenterol Nutr 1986; 5: 899-901.
  • 9. Soylu OB, Ecevit C, Altinöz S, et al. Nephrocalcinosis in glucose-galactose malabsorption: nephrocalcinosis and proximal tubular dysfunction in a young infant with a novel mutation of SGLT1. Eur J Pediatr 2008; 167: 1395-1398.
  • 10. Fiscaletti M, Lebel MJ, Alos N, Benoit G, Jantchou P. Two Cases of Mistaken Polyuria and Nephrocalcinosis in Infants with Glucose-Galactose Malabsorption: A Possible Role of 1,25(OH)2D3. Horm Res Paediatr. 2017; 87: 277-282.
  • 11. Assiri A, Saeed A, Alnimri A, Ahmad S, Saeed E, Jameel S. Five Arab children with glucose-galactose malabsorption. Paediatr Int Child Health 2013; 33: 108-110.
  • 12. Saadah Ol, Alghamdi SA, Sindi HH, Alhunaitti H, Bin-Taleb YY, Alhussaini BH. Congenital glucosegalactose malabsorption: a descriptive study of clinical characteristics and outcome from Western Saudi Arabia. Arab J Gastroenterol 2014; 15: 21-23.
Toplam 12 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Sağlık Kurumları Yönetimi
Bölüm Editöre Mektup
Yazarlar

Mehmet Satar 0000-0002-5718-0503

Mustafa Akçalı 0000-0002-0496-542X

Hacer Yapıcıoğlu Yıldızdaş 0000-0001-6295-553X

Ferda Özlü Bu kişi benim 0000-0002-2092-8426

Mehmet Ağın Bu kişi benim

Gökhan Tümgör 0000-0002-3919-002X

Atıl Bişgin 0000-0002-2053-9076

Yayımlanma Tarihi 29 Aralık 2018
Kabul Tarihi 14 Şubat 2018
Yayımlandığı Sayı Yıl 2018 Cilt: 43 Sayı: 4

Kaynak Göster

MLA Satar, Mehmet vd. “A Novel Mutation in Congenital Glucose Galactose Malabsorption Syndrome”. Cukurova Medical Journal, c. 43, sy. 4, 2018, ss. 1062-4, doi:10.17826/cumj.383030.