Aspartylglucosaminuria

*Gene map locus 4q32-q33

AGU

Aspartylglucosaminidase deficiency

Aspartylglycosaminuria

Glycosylasparaginase deficiency

[Clinical features: progressive mental retardation]

[Inheritance: autosomal recessive]


Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria	Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria	Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria
Journal of Medical Genetics	Journal of Medical Genetics	Journal of Medical Genetics


Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria	Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria	Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria
Journal of Medical Genetics	Journal of Medical Genetics	Journal of Medical Genetics


Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria	Aspartylglycosaminuria - Kyphosis (kyphoscoliosis)
Journal of Medical Genetics	LysoSomal Learning

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Edited by Aldo Campana, February 8, 2010