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1976 2
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1993 4
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Page 1
Progressive nature of aspartylglucosaminuria.
Arvio P, Arvio M. Arvio P, et al. Acta Paediatr. 2002;91(3):255-7. doi: 10.1080/08035250252833842. Acta Paediatr. 2002. PMID: 12022293 Review.
Descriptions of the outcome of aspartylglucosaminuria (AGU) were analysed, and a comprehensive summary table of symptoms and signs by age was designed. ...
Descriptions of the outcome of aspartylglucosaminuria (AGU) were analysed, and a comprehensive summary table of symptoms and signs by …
Disorders of glycoprotein degradation.
Cantz M, Ulrich-Bott B. Cantz M, et al. J Inherit Metab Dis. 1990;13(4):523-37. doi: 10.1007/BF01799510. J Inherit Metab Dis. 1990. PMID: 2122119 Review.
This paper presents an overview of the biochemistry and the clinical spectrum of this group of diseases including sialidosis, galactosialidosis, alpha- and beta-mannosidosis, fucosidosis, aspartylglucosaminuria, and alpha-N-acetylgalactosaminidase deficiency (Schindler dis …
This paper presents an overview of the biochemistry and the clinical spectrum of this group of diseases including sialidosis, galactosialido …
The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.
Naumchik BM, Gupta A, Flanagan-Steet H, Steet RA, Cathey SS, Orchard PJ, Lund TC. Naumchik BM, et al. Cells. 2020 Jun 5;9(6):1411. doi: 10.3390/cells9061411. Cells. 2020. PMID: 32517081 Free PMC article. Review.
The glycoprotein disorders are a group of lysosomal storage diseases (alpha-mannosidosis, aspartylglucosaminuria, beta-mannosidosis, fucosidosis, galactosialidosis, sialidosis, mucolipidosis II, mucolipidosis III, and Schindler Disease) characterized by specific lysosomal …
The glycoprotein disorders are a group of lysosomal storage diseases (alpha-mannosidosis, aspartylglucosaminuria, beta-mannosidosis, …
Impaired oral health in patients with aspartylglucosaminuria.
Arvio P, Arvio M, Wolf J, Lukinmaa PL, Saxen L, Pirinen S. Arvio P, et al. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1998 Nov;86(5):562-8. doi: 10.1016/s1079-2104(98)90346-8. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1998. PMID: 9830648
OBJECTIVE: The aim of this study was to assess the oral health of patients with aspartylglucosaminuria, a heritable lysosomal storage disorder, and to recommend guidelines for treatment. STUDY DESIGN: Eighty-two patients with aspartylglucosaminuria and 122 control s …
OBJECTIVE: The aim of this study was to assess the oral health of patients with aspartylglucosaminuria, a heritable lysosomal storage …
Brain MRI findings in aspartylglucosaminuria.
Tokola AM, Åberg LE, Autti TH. Tokola AM, et al. J Neuroradiol. 2015 Dec;42(6):345-57. doi: 10.1016/j.neurad.2015.03.003. Epub 2015 May 27. J Neuroradiol. 2015. PMID: 26026191
BACKGROUND AND PURPOSE: The aim of this study was to identify characteristic 3.0 T brain MRI findings in patients with aspartylglucosaminuria (AGU), a rare lysosomal storage disorder. Previous AGU patient material imaged at 1.0 and 1.5 T was also re-evaluated. ...
BACKGROUND AND PURPOSE: The aim of this study was to identify characteristic 3.0 T brain MRI findings in patients with aspartylglucosamin
Structural basis of aspartylglucosaminuria.
Saito S, Ohno K, Sugawara K, Suzuki T, Togawa T, Sakuraba H. Saito S, et al. Biochem Biophys Res Commun. 2008 Dec 26;377(4):1168-72. doi: 10.1016/j.bbrc.2008.10.142. Epub 2008 Nov 4. Biochem Biophys Res Commun. 2008. PMID: 18992224
To elucidate the basis of aspartylglucosaminuria (AGU) from the viewpoint of enzyme structure, we constructed structural models of mutant aspartylglucosaminidase (AGA) proteins using molecular modeling software, TINKER. ...
To elucidate the basis of aspartylglucosaminuria (AGU) from the viewpoint of enzyme structure, we constructed structural models of mu …
Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria.
Vargas-Díez E, Chabás A, Coll MJ, Sánchez-Pérez J, García-Díez A, Fernández-Herrera JM. Vargas-Díez E, et al. Br J Dermatol. 2002 Oct;147(4):760-4. doi: 10.1046/j.1365-2133.2002.04827.x. Br J Dermatol. 2002. PMID: 12366426 Review.
Angiokeratoma corporis diffusum (ACD), initially considered to be synonymous with Fabry's disease, represents a well-known cutaneous marker of some other lysosomal enzyme disorders. Aspartylglucosaminuria (AGU) is a rare hereditary disorder mostly affecting the Finnish pop …
Angiokeratoma corporis diffusum (ACD), initially considered to be synonymous with Fabry's disease, represents a well-known cutaneous marker …
Bone marrow transplantation in aspartylglucosaminuria--histopathological and MRI study.
Autti T, Rapola J, Santavuori P, Raininko R, Renlund M, Liukkonen E, Lauronen L, Wirtavuori K, Hietala M, Saarinen-Pihkala U. Autti T, et al. Neuropediatrics. 1999 Dec;30(6):283-8. doi: 10.1055/s-2007-973506. Neuropediatrics. 1999. PMID: 10706021
This study comprised two patients with aspartylglucosaminuria (AGU), who were followed up for 4 and 7 years. The patients underwent allogeneic bone marrow transplantation (BMT) at the ages of 2 and 2.6 years. ...
This study comprised two patients with aspartylglucosaminuria (AGU), who were followed up for 4 and 7 years. The patients underwent a …
Follow-up in patients with aspartylglucosaminuria. Part II. Adaptive skills.
Arvio M. Arvio M. Acta Paediatr. 1993 Jun-Jul;82(6-7):590-4. doi: 10.1111/j.1651-2227.1993.tb12762.x. Acta Paediatr. 1993. PMID: 8338997
Aspartylglucosaminuria is a lysosomal storage disorder inherited as an autosomal recessive trait. ...
Aspartylglucosaminuria is a lysosomal storage disorder inherited as an autosomal recessive trait. ...
33 results