Page last updated: 2024-11-08

aspartic acid and Gaucher Disease

aspartic acid has been researched along with Gaucher 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.

Gaucher Disease: An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.

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)

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (40.00)18.2507
2000's0 (0.00)29.6817
2010's3 (60.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Kim, D1
Hwang, H1
Choi, S1
Kwon, SH1
Lee, S1
Park, JH1
Kim, S1
Ko, HS1
Razek, AA1
Abdalla, A1
Gaber, NA1
Fathy, A1
Megahed, A1
Barakat, T1
Latif Alsayed, MA1
Gruber, S1
Bogner, W1
Stadlbauer, A1
Krssak, M1
Bodamer, O1
Tedeschi, G1
Schiffmann, R1
Barton, NW1
Shih, HH1
Gospe, SM1
Brady, RO1
Alger, JR1
Di Chiro, G1
Choy, FY1
Humphries, ML1
Ben-Yoseph, Y1

Other Studies

5 other studies available for aspartic acid and Gaucher Disease

ArticleYear
D409H GBA1 mutation accelerates the progression of pathology in A53T α-synuclein transgenic mouse model.
    Acta neuropathologica communications, 2018, 04-27, Volume: 6, Issue:1

    Topics: alpha-Synuclein; Animals; Aspartic Acid; Brain Stem; Disease Progression; Endoplasmic Reticulum Stre

2018
Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher's disease.
    European radiology, 2013, Volume: 23, Issue:11

    Topics: Aspartic Acid; Biomarkers; Brain; Brain Chemistry; Child, Preschool; Choline; Creatine; Diagnosis, D

2013
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
Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination.
    Neurology, 1995, Volume: 45, Issue:8

    Topics: Aspartic Acid; Ataxia; Brain; Brain Diseases; Child, Preschool; Choline; Creatine; Female; Gaucher D

1995
Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient.
    American journal of medical genetics, 1998, Jun-16, Volume: 78, Issue:1

    Topics: Aspartic Acid; Female; France; Gaucher Disease; Glucosylceramidase; Humans; Infant; Ireland; Lysine;

1998