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Aspartylglucosaminuria

Kalıtsal - AR

Gelişme geriliği

Brakisefali

Mikrosefali

Kafa kemikleri kalın

Frontal sinüslerin agenezi

Yüz yapısı kaba

Lensler opak

Basık burun

Dudaklar kalın

Makrostomi

Makroglossi

Mitral kapak yetmezliği

Nötropeni

Yineleyen solunum sistemi infeksiyonları

Batın fıtıkları

Diyare

Hepatomegali

Büyük testisler

Vertebra anomalileri

Kifoz

Skolyoz

Ekstremitelerde patolojik kırıklar

Deride akneler ve angiokeratomalar

Beyin atrofisi

Zeka geriliği

Erişkinlerde epilepsi

 

  • Gordon BA, Rupar CA, Rip JW, et al. Aspartylglucosaminuria in a Canadian family. Clinical & Investigative Medicine, 21: 114-123, 1998

  • Arvio P, Arvio M, Kero M, et al. Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria. Journal of Medical Genetics, 36: 398-404, 1999

  • Arvio P, Arvio M, Kero M, et al. Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria. Journal of Medical Genetics, 36: 398-404, 1999

  • Arvio M, Sauna-aho O, Peippo M. Bone marrow transplantation for aspartylglucosaminuria: a follow-up study of transplanted and non-transplanted patients. Journal of Pediatrics, 138: 288-290, 2001

  • Arvio P, Arvio M. Progressive nature of aspartylglucosaminuria. Acta Pædiatrica, 91: 255-257, 2002