Macrocytic anemia in Lesch-Nyhan disease and its variants

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ÇAKMAKLI H. F., Torres R. J., Menendez A., YALÇIN ÇAKMAKLI G., Porter C. C., Puig J. G., ...Daha Fazla

GENETICS IN MEDICINE, cilt.21, sa.2, ss.353-360, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 21 Sayı: 2
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1038/s41436-018-0053-1
  • Dergi Adı: GENETICS IN MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.353-360
  • Anahtar Kelimeler: HPRT1, hypoxanthine-guanine phosphoribosyltransferase, Lesch-Nyhan disease, macrocytic anemia, megaloblastic anemia, ATTENUATED VARIANTS, HPRT DEFICIENCY, IRON-DEFICIENCY, BONE-MARROW, SEIZURES, SPECTRUM, CELLS, MODEL, ACID
  • Ankara Üniversitesi Adresli: Evet

Özet

Purpose: Lesch-Nyhan disease is an inherited metabolic disorder characterized by overproduction of uric acid and neurobehavioral abnormalities. The purpose of this study was to describe macrocytic erythrocytes as another common aspect of the phenotype.