Oxoprolinase deficiency report of three siblings ans a case with two new compound heterozygous mutations and the clinical diversity even in the same family

ÖNENLİ MUNGAN H. N., ŞEKER YILMAZ B., BULUT F. D., OKTEM M., KÖR D., CEYLANER S., ...Daha Fazla

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, 6 - 09 Eylül 2016

  • Yayın Türü: Bildiri
  • Çukurova Üniversitesi Adresli: Evet