Aspartylglycosaminuria: a review
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13023-016-0544-6.pdf
Reference66 articles.
1. Pollitt RJ, Jenner FA, Merskey H. Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect. Lancet. 1968;2(7562):253–5.
2. Palo J. Prevalence of phenylketonuria and some other metabolic disorders among mentally retarded patients in Finland. Acta Neurol Scand. 1967;43(5):573–9.
3. Mononen I, Fisher KJ, Kaartinen V, Aronson Jr NN. Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation. FASEB J. 1993;7(13):1247–56.
4. Mononen I. Aronson NN, editors. Lysosomal storage disease: Aspartylglycosaminuria. Heidelberg: Spirenger-Verlag; 1997.
5. Arvio M, Laiho K, Kauppi M, Peippo M, Leino P, Kautiainen H, Kaipiainen-Seppanen O, Mononen I. Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis. Ann Rheum Dis. 2002;61(2):180–1.
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