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
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Gordon BA, Rupar CA, Rip JW, et al. Aspartylglucosaminuria in a Canadian family. Clinical & Investigative Medicine, 21: 114-123, 1998
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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
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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
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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
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Arvio P, Arvio M. Progressive nature of aspartylglucosaminuria. Acta Pædiatrica, 91: 255-257, 2002