|1.||d'Azzo, Alessandra: 7 articles (06/2014 - 06/2002)|
|2.||Hinek, Aleksander: 4 articles (05/2012 - 02/2006)|
|3.||Pshezhetsky, Alexey V: 4 articles (01/2009 - 08/2004)|
|4.||d'Azzo, A: 4 articles (12/2008 - 04/2000)|
|5.||Sakuraba, Hitoshi: 4 articles (04/2006 - 01/2003)|
|6.||Bonten, Erik: 3 articles (02/2012 - 06/2002)|
|7.||Itoh, Kohji: 3 articles (04/2008 - 02/2006)|
|8.||Dietz, Harry C: 2 articles (02/2015 - 11/2012)|
|9.||Doyle, Alexander J: 2 articles (02/2015 - 11/2012)|
|10.||Schepers, Dorien: 2 articles (02/2015 - 11/2012)|
08/27/2004 - "Expression of Neu4 in the cells of sialidosis and galactosialidosis patients results in clearance of storage materials from lysosomes suggesting that Neu4 may be useful for developing new therapies for these conditions."
04/01/2006 - "Elimination of abnormal sialylglycoproteins in fibroblasts with sialidosis and galactosialidosis by normal gene transfer and enzyme replacement."
11/01/2005 - "Storage staining affinities and storage distribution in placenta and fetal organs allowed differential diagnosis from other LSDs but cannot differentiate between SASD, sialidosis, and galactosialidosis. "
06/15/2003 - "Application of our protocol to 124 individuals at risk for SAMD led to the diagnosis of five affected patients, two with type I sialidosis, one with type II sialidosis, and two with galactosialidosis. "
06/01/2002 - "In humans, primary or secondary deficiency of this enzyme leads to two clinically similar neurodegenerative lysosomal storage disorders: sialidosis and galactosialidosis (GS). "
03/19/1998 - "The apparently diagnostic findings of the 15 patients with this syndrome may be helpful in differentiating between Shprintzen-Goldberg syndrome and other syndromes with craniosynostosis and marfanoid habitus."
01/01/2014 - "Shprintzen-Goldberg syndrome (S-G) is a rare connective tissue disorder characterised by craniosynostosis, craniofacial dysmorphism, skeletal, cardiovascular, neurological, and other abnormalities. "
03/01/2011 - "Shprintzen-Goldberg syndrome (SGS) is characterized by craniosynostosis and marfanoid habitus. "
06/15/2005 - "The Shprintzen-Goldberg syndrome (SGS) is a disorder of unknown cause comprising craniosynostosis, a marfanoid habitus and skeletal, neurological, cardiovascular, and connective-tissue anomalies. "
03/19/1998 - "Shprintzen-Goldberg syndrome is one of a group of disorders characterized by craniosynostosis and marfanoid habitus. "
|3.||GM1 Gangliosidosis (Gangliosidosis GM1)
03/01/1987 - "In galactosialidosis, two types of inclusions, vacuolar and lamellar, were distinguished, resembling those usually seen in generalized gangliosidosis. "
01/03/1986 - "The results are compatible with findings that GM1 and GA1 do not accumulate in the somatic organs of patients with adult GM1 gangliosidosis and galactosialidosis. "
04/01/1985 - "Disappearance of the cherry-red spot has also been observed in GM1 generalized gangliosidosis, the sialidoses known as the cherry-red spot-myoclonus syndrome and the Goldberg syndrome, and Niemann-Pick, type C disease. "
04/07/2000 - "This polypeptide was found to copurify with beta-gal and protective protein/cathepsin A from mouse liver and Madin-Darby bovine kidney cells and was immunoprecipitated from human fibroblasts but not from fibroblasts of a G(M1) gangliosidosis and a galactosialidosis patient. "
07/15/1992 - "Lactosylceramide-loading studies confirmed that there was a defect in the turnover of this lipid in fibroblasts from the affected patient and fetus but not from a patient with an isolated SAP-1 deficiency, or from patients with Krabbe disease, GM1 gangliosidosis or galactosialidosis. "
12/01/1995 - "Fucosidosis and galactosialidosis are next well known diseases to produce angiokeratoma. "
01/01/2013 - "Subsequently, elevation was also observed in various lysosomal storage disorders such as fucosidosis, galactosialidosis and glycogen storage disease type IV. The aim of the present study was to evaluate plasma chitotriosidase activity in 19 children with glycogen storage disease type I. Plasma chitotriosidase levels were found to be significantly higher in children with GSD type I than healthy age-matched controls (21.3 ± 16.4 vs. 12.3 ± 8.9 nmol/h/mL, p=0.04). "
02/07/2011 - "Samples from patients previously diagnosed with I-Cell disease, mannosidosis, Pompe, galactosialidosis, and fucosidosis were derivatized with 3-methyl-1-phenyl-2-pyrazolin-5-one and subjected to analysis by liquid chromatography tandem mass spectrometry. "
01/01/1990 - "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 disease). "
10/01/1995 - "alpha-mannosidosis, fucosidosis, sialidosis, galactosialidosis, Schindler disease, GM1-gangliosidosis, GM2-gangliosidosis (Sandhoff type), Pompe disease, Salla disease, mucolipidosis II and III. We are presenting a modification of the Humbel and Collart's method of TLC of urine oligosaccharides. "
07/01/2003 - "The anesthetic implications of patients with galactosialidosis may be similar to those with other well documented mucopolysaccharidoses, but no cases have been reported in the anesthesia-related literature. "
09/01/1994 - "This study was planned to determine the presence and extent of cardiac involvement in metabolic storage diseases, including types I and II glycogenoses, Gaucher and Neimann-Pick diseases, galactosialidosis and mucopolysaccharidosis. "
10/15/1993 - "Lysosomal protein degradation in a mucolipidosis III cell line was impaired to a similar degree as in mucolipidosis II cells, whereas it was decreased to a lesser extent in fibroblasts from patients with mucopolysaccharidoses I and VI, galactosialidosis and GM1-gangliosidosis. "
03/01/1987 - "Genetic mucopolysaccharidoses, mannosidosis, sialidosis, galactosialidosis, and I-cell disease. "
11/01/2004 - "Lysosomal storage disorder samples include; aspartylglucosaminuria, galactosialidosis, Gaucher disease, GM1 gangliosidosis, mucopolysaccharidosis types I, II, IIIC, IVA, VI, and VII, mucolipidosis type II, multiple sulfatase deficiency, and sialidosis type II. Each disorder produced a unique signature metabolic profile of protein, oligosaccharide, and glycolipid markers. "
|3.||Genetic Markers (Genetic Marker)
|6.||CDw17 antigen (lactosylceramide)