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Type I Schindler Disease

Also Known As:
Schindler Disease, Type I; Alpha-Galactosidase B Deficiency; Alpha-Galnac Deficiency, Schindler Type; Alpha-N-Acetylgalactosaminidase Deficiency; Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset; Alpha-N-Acetylgalactosaminidase Deficiency, Type I; Alpha-N-Acetylgalactosaminidase Deficiency, Type III; Alpha-N-acetylgalactosaminidase deficiency adult onset; Alpha-N-acetylgalactosaminidase deficiency type 2; Alpha-N-acetylgalactosaminidase deficiency, type 1; Alpha-Naga Deficiency; Angiokeratoma Corporis Diffusum-Glycopeptiduria; Galb Deficiency; Kanzaki disease; Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum; NAGA Deficiency, Type II; NAGA Deficiency, Type III; NAGA deficiency type 2; Naga Deficiency; Naga Deficiency, Type I; Neuroaxonal dystrophy, Schindler type; Neuronal Axonal Dystrophy, Schindler Type; Schindler Disease; Schindler Disease, Type II; Schindler Disease, Type III; Schindler disease, type 1; Schindler disease, type 2; alpha-N-Acetylgalactosaminidase Deficiency, Type II
Networked: 37 relevant articles (2 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Type I Schindler Disease
2. Neuroaxonal Dystrophies (Neuroaxonal Dystrophy, Late Infantile)
3. Fucosidosis
4. Fabry Disease (Fabry's Disease)
5. Mannosidase Deficiency Diseases (Mannosidosis)

Experts

1. Kanzaki, Tamotsu: 5 articles (03/2005 - 05/2002)
2. Zamfir, Alina D: 4 articles (11/2015 - 02/2006)
3. Peter-Katalinić, Jasna: 3 articles (11/2015 - 02/2006)
4. Sarbu, Mirela: 3 articles (11/2015 - 10/2014)
5. Fukushige, Tomoko: 3 articles (01/2005 - 10/2002)
6. Kanekura, Takuro: 2 articles (03/2005 - 01/2005)
7. Doi, Hirofumi: 2 articles (01/2005 - 01/2004)
8. Hirabayashi, Yoshio: 2 articles (01/2005 - 05/2002)
9. Matsuzawa, Fumiko: 2 articles (01/2005 - 01/2004)
10. Sakuraba, Hitoshi: 2 articles (01/2005 - 01/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type I Schindler Disease:
1. Amino AcidsFDA Link
2. GlycosidesIBA
3. alpha-L-Fucosidase (Fucosidase)IBA
4. alpha-N-Acetylgalactosaminidase (N-Acetyl-alpha-D-Galactosaminidase)IBA
5. GlycopeptidesIBA
10/29/2014 - "In this study an integrative mass spectrometry (MS) approach based on fully automated chip-nanoelectrospray quadrupole time-of-flight was optimized and applied for the discovery and structural characterization of O-glycopeptides in a fraction from the urine of a patient diagnosed with Schindler disease type I. A mixture of O-glycopeptides extracted and purified from an age matched healthy subject served as the control. "
11/15/2015 - "Schindler disease is caused by the deficient activity of α-N-acetylgalactosaminidase, which leads to an abnormal accumulation of O-glycopeptides in tissues and body fluids. "
11/15/2015 - "Application of ion mobility tandem mass spectrometry to compositional and structural analysis of glycopeptides extracted from the urine of a patient diagnosed with Schindler disease."
09/01/1990 - "A method for the rapid detection of urinary glycopeptides in alpha-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases."
09/01/1990 - "This method permits rapid screening and identification of disorders characterized by oligosacchariduria and glycopeptiduria including alpha-N-acetylgalactosaminidase deficiency, angiokeratoma corporis diffusum with glycopeptiduria, aspartylglucosaminuria, galactosialidosis, fucosidosis, GM1 gangliosidosis and sialidoses 1 and 2. Of note, the characterization of the glycopeptide excretion profiles in patients with alpha-N-acetylgalactosaminidase deficiency and angiokeratoma corporis diffusum with glycopeptiduria revealed essentially identical patterns, indicating the metabolic relatedness of these two phenotypically distinct conditions. "
6. Biomarkers (Surrogate Marker)IBA
7. SialoglycoproteinsIBA
8. CeroidIBA
9. EnzymesIBA
10. OligosaccharidesIBA

Therapies and Procedures

1. Lasers (Laser)