Page last updated: 2024-11-08

aspartic acid and Fabry Disease

aspartic acid has been researched along with Fabry Disease in 5 studies

Aspartic Acid: One of the non-essential amino acids commonly occurring in the L-form. It is found in animals and plants, especially in sugar cane and sugar beets. It may be a neurotransmitter.
aspartic acid : An alpha-amino acid that consists of succinic acid bearing a single alpha-amino substituent
L-aspartic acid : The L-enantiomer of aspartic acid.

Fabry Disease: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.

Research Excerpts

ExcerptRelevanceReference
"Fabry and Gaucher diseases are rare progressive inherited disorders of glycosphingolipid metabolism that affect multiple organ systems."1.37Magnetic resonance spectroscopy in patients with Fabry and Gaucher disease. ( Bodamer, O; Bogner, W; Gruber, S; Krssak, M; Stadlbauer, A, 2011)
"Angiokeratoma corporis diffusum was observed in one patient."1.26Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family. ( Becker, C; Gehler, J; Hartmann, J; Sewell, AC; Spranger, J, 1981)

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19901 (20.00)18.7374
1990's0 (0.00)18.2507
2000's2 (40.00)29.6817
2010's2 (40.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Gruber, S1
Bogner, W1
Stadlbauer, A1
Krssak, M1
Bodamer, O1
László, A1
Török, L1
Raffai, S1
Török, E1
Sallay, E1
Endreffy, E1
Morvai, L1
van Amstel, JK1
Politei, JM1
Capizzano, AA1
Marino, S1
Borsini, W1
Buchner, S1
Mortilla, M1
Stromillo, ML1
Battaglini, M1
Giorgio, A1
Bramanti, P1
Federico, A1
De Stefano, N1
Gehler, J1
Sewell, AC1
Becker, C1
Hartmann, J1
Spranger, J1

Other Studies

5 other studies available for aspartic acid and Fabry Disease

ArticleYear
Magnetic resonance spectroscopy in patients with Fabry and Gaucher disease.
    European journal of radiology, 2011, Volume: 79, Issue:2

    Topics: Adult; Aspartic Acid; Case-Control Studies; Choline; Creatine; Fabry Disease; Female; Gaucher Diseas

2011
Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patients.
    Ideggyogyaszati szemle, 2012, Jan-30, Volume: 65, Issue:1-2

    Topics: Adult; alpha-Galactosidase; Aspartic Acid; Codon; DNA Mutational Analysis; Exons; Fabry Disease; Hum

2012
Magnetic resonance image findings in 5 young patients with Fabry disease.
    The neurologist, 2006, Volume: 12, Issue:2

    Topics: Adolescent; Adult; Aspartic Acid; Brain; Brain Chemistry; Creatine; Diffusion Magnetic Resonance Ima

2006
Diffuse structural and metabolic brain changes in Fabry disease.
    Journal of neurology, 2006, Volume: 253, Issue:4

    Topics: Adult; alpha-Galactosidase; Aspartic Acid; Axons; Brain; Brain Chemistry; Disease Progression; DNA;

2006
Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family.
    Helvetica paediatrica acta, 1981, Volume: 36, Issue:2

    Topics: Abnormalities, Multiple; Acetylglucosamine; Adult; Amidohydrolases; Aspartic Acid; Aspartylglucosami

1981