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aspartic acid and Hemochromatosis

aspartic acid has been researched along with Hemochromatosis in 21 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.

Hemochromatosis: A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)

Research Excerpts

ExcerptRelevanceReference
"Hereditary hemochromatosis is associated with homozygosity for C282Y mutation in the HFE gene, elevated serum transferrin saturation and excess iron deposits throughout the body."3.72Population screening for hemochromatosis: a study in 5370 Spanish blood donors. ( Ascaso, C; Bruguera, M; Ingelmo, M; Oliva, R; Sánchez, M; Sanz, C; Villa, M, 2003)
"Hereditary hemochromatosis is the most frequent hereditary metabolic disorder, with lethal outcome without treatment."2.42[Iron storage disease]. ( Dávid, K; Horváth, G, 2004)
"Hereditary HFE Hemochromatosis is an inherited disorder of iron metabolism that results from mutations in the HFE gene."1.37Prevalence of H63D, S65C, and C282Y hereditary hemochromatosis gene variants in Madeira Island (Portugal). ( Brehm, A; Spínola, C; Spínola, H, 2011)
"The metabolic syndrome was present in 23 (27%), hepatic steatosis in 43 (50%), steatohepatitis in 18 (21%) and significant fibrosis in 38 (44%)."1.33The effect of the metabolic syndrome, hepatic steatosis and steatohepatitis on liver fibrosis in hereditary hemochromatosis. ( Abraham, SC; Adams, LA; Angulo, P; Brandhagen, D; Torgerson, H, 2006)
"Hereditary haemochromatosis (HH) is one of the most common inherited diseases among Caucasians."1.31Haemochromatosis: automated detection of the two point mutations in the HFE gene: Cys282Tyr and His63Asp. ( Klingler, KR; Wielckens, K; Zech, D, 2000)
"Haemochromatosis is a common genetic disorder, inherited as an autosomal recessive trait that results in a progressive accumulation of iron in most tissues of the body."1.31Association studies between haemochromatosis gene mutations and the risk of cardiovascular diseases. ( Amarenco, P; Arveiler, D; Cambien, F; Elbaz, A; Evans, A; Gariepy, J; Grandchamp, B; Hetet, G; Kee, F; Morrison, C; Nicaud, V; Simon, A, 2001)
"Hereditary haemochromatosis is an autosomal recessive disease in which there is defective regulation of iron absorption, causing gradual accumulation of excessive amounts of iron in certain organs."1.30A PCR-SSP method for detecting the His63Asp mutation in the HFE gene associated with hereditary haemochromatosis. ( Smillie, D, 1998)

Research

Studies (21)

TimeframeStudies, this research(%)All Research%
pre-19901 (4.76)18.7374
1990's6 (28.57)18.2507
2000's13 (61.90)29.6817
2010's1 (4.76)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Spínola, C1
Brehm, A1
Spínola, H1
Sánchez, M1
Villa, M1
Ingelmo, M1
Sanz, C1
Bruguera, M1
Ascaso, C1
Oliva, R1
LEDERER, J1
CLOSE, J1
Milman, N1
Pedersen, P1
Ovesen, L1
Melsen, GV1
Fenger, K1
Anderson, GJ2
Ramm, GA2
Subramaniam, VN1
Powell, LW2
Horváth, G1
Dávid, K1
Adams, LA1
Angulo, P1
Abraham, SC1
Torgerson, H1
Brandhagen, D1
Barton, JC1
Shih, WW1
Sawada-Hirai, R1
Acton, RT1
Harmon, L1
Rivers, C1
Rothenberg, BE1
Gottschalk, R1
Seidl, C1
Löffler, T1
Seifried, E1
Hoelzer, D1
Kaltwasser, JP1
Dubois-Laforgue, D1
Caillat-Zucman, S1
Djilali-Saiah, I1
Larger, E1
Mercadier, A1
Boitard, C1
Bach, JF1
Timsit, J1
Baiget, M1
Barceló, MJ1
Gimferrer, E1
Smillie, D1
Cullen, LM1
Jazwinska, EC1
Umek, RM1
Lin, SS1
Chen Yp, Y1
Irvine, B1
Paulluconi, G1
Chan, V1
Chong, Y1
Cheung, L1
Vielmetter, J1
Farkas, DH1
Klingler, KR1
Zech, D1
Wielckens, K1
Hetet, G1
Elbaz, A1
Gariepy, J1
Nicaud, V1
Arveiler, D1
Morrison, C1
Kee, F1
Evans, A1
Simon, A1
Amarenco, P1
Cambien, F1
Grandchamp, B1
Pereira, AC1
Cuoco, MA1
Mota, GF1
da Silva, FF1
Freitas, HF1
Bocchi, EA1
Soler, JM1
Mansur, AJ1
Krieger, JE1
Shiono, Y1
Ikeda, R1
Hayashi, H1
Wakusawa, S1
Sanae, F1
Takikawa, T1
Imaizumi, Y1
Yano, M1
Yoshioka, K1
Kawanaka, M1
Yamada, G1
Pärlist, P1
Mikelsaar, AV1
Tasa, G1
Beckman, L1
Manoharan, A1
Waalen, J1
Felitti, V1
Gelbart, T1
Ho, NJ1
Beutler, E1

Reviews

2 reviews available for aspartic acid and Hemochromatosis

ArticleYear
[Iron storage disease].
    Orvosi hetilap, 2004, Sep-26, Volume: 145, Issue:39

    Topics: Aspartic Acid; Carcinoma, Hepatocellular; Chromosomes, Human, Pair 6; Cysteine; Diabetes Mellitus; D

2004
Genetics of hemochromatosis.
    Annual review of medicine, 1999, Volume: 50

    Topics: Amino Acid Substitution; Aspartic Acid; Cloning, Molecular; Cysteine; Genes, MHC Class I; Genes, Rec

1999

Other Studies

19 other studies available for aspartic acid and Hemochromatosis

ArticleYear
Prevalence of H63D, S65C, and C282Y hereditary hemochromatosis gene variants in Madeira Island (Portugal).
    Annals of hematology, 2011, Volume: 90, Issue:1

    Topics: Adolescent; Adult; Amino Acid Substitution; Aspartic Acid; Cysteine; Gene Frequency; Genotype; Hemoc

2011
Population screening for hemochromatosis: a study in 5370 Spanish blood donors.
    Journal of hepatology, 2003, Volume: 38, Issue:6

    Topics: Adult; Aspartic Acid; Blood Donors; Cysteine; Female; Ferritins; Gene Frequency; Genetic Testing; Ge

2003
[FERROUS ASPARTATE IN THERAPY].
    Archives internationales de pharmacodynamie et de therapie, 1964, Jan-01, Volume: 147

    Topics: Absorption; Anemia; Anemia, Hypochromic; Aspartic Acid; Biomedical Research; Blood Chemical Analysis

1964
Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in 2501 ethnic Danes.
    Annals of hematology, 2004, Volume: 83, Issue:10

    Topics: Aspartic Acid; Confidence Intervals; Cysteine; Denmark; Female; Gene Frequency; Genotype; Hemochroma

2004
HFE gene and hemochromatosis.
    Journal of gastroenterology and hepatology, 2004, Volume: 19, Issue:6

    Topics: Aspartic Acid; Cysteine; Gene Frequency; Hemochromatosis; Hemochromatosis Protein; Heterozygote; His

2004
The effect of the metabolic syndrome, hepatic steatosis and steatohepatitis on liver fibrosis in hereditary hemochromatosis.
    Liver international : official journal of the International Association for the Study of the Liver, 2006, Volume: 26, Issue:3

    Topics: Adult; Aged; Aspartic Acid; Cysteine; Fatty Liver; Female; Genetic Predisposition to Disease; Glucos

2006
Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis.
    Blood cells, molecules & diseases, 1997, Volume: 23, Issue:1

    Topics: Adult; Alleles; Aspartic Acid; Chromosomes, Human, Pair 6; Cysteine; Female; Gene Frequency; Genes,

1997
HFE codon 63/282 (H63D/C282Y) dimorphism in German patients with genetic hemochromatosis.
    Tissue antigens, 1998, Volume: 51, Issue:3

    Topics: Aspartic Acid; Codon; Cysteine; Female; Genotype; Germany; Hemochromatosis; Hemochromatosis Protein;

1998
Mutations in HFE, the hemochromatosis candidate gene, in patients with NIDDM.
    Diabetes care, 1998, Volume: 21, Issue:8

    Topics: Amino Acid Substitution; Aspartic Acid; Cysteine; Diabetes Mellitus, Type 2; Hemochromatosis; Hemoch

1998
Frequency of the HFE C282Y and H63D mutations in distinct ethnic groups living in Spain.
    Journal of medical genetics, 1998, Volume: 35, Issue:8

    Topics: Alleles; Aspartic Acid; Cysteine; Ethnicity; Genotype; Hemochromatosis; Hemochromatosis Protein; His

1998
A PCR-SSP method for detecting the His63Asp mutation in the HFE gene associated with hereditary haemochromatosis.
    Molecular pathology : MP, 1998, Volume: 51, Issue:4

    Topics: Amino Acid Substitution; Aspartic Acid; Chromosomes, Human, Pair 6; DNA Primers; Electrophoresis, Ag

1998
Bioelectronic detection of point mutations using discrimination of the H63D polymorphism of the Hfe gene as a model.
    Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology, 2000, Volume: 5, Issue:4

    Topics: Amino Acid Substitution; Aspartic Acid; Genotype; Hemochromatosis; Hemochromatosis Protein; Histidin

2000
Haemochromatosis: automated detection of the two point mutations in the HFE gene: Cys282Tyr and His63Asp.
    Clinical chemistry and laboratory medicine, 2000, Volume: 38, Issue:12

    Topics: Aspartic Acid; Cysteine; DNA Mutational Analysis; Hemochromatosis; Hemochromatosis Protein; Heterozy

2000
Association studies between haemochromatosis gene mutations and the risk of cardiovascular diseases.
    European journal of clinical investigation, 2001, Volume: 31, Issue:5

    Topics: Adolescent; Adult; Aged; Aged, 80 and over; Arteriosclerosis; Aspartic Acid; Brain Infarction; Cardi

2001
Hemochromatosis gene variants in patients with cardiomyopathy.
    The American journal of cardiology, 2001, Aug-15, Volume: 88, Issue:4

    Topics: Adolescent; Adult; Aged; Aspartic Acid; Cardiomyopathies; Cysteine; Disease Progression; Female; Gen

2001
C282Y and H63D mutations in the HFE gene have no effect on iron overload disorders in Japan.
    Internal medicine (Tokyo, Japan), 2001, Volume: 40, Issue:9

    Topics: Adult; Asian People; Aspartic Acid; Cysteine; Female; Hemochromatosis; Hemochromatosis Protein; Hepa

2001
The frequency of C282Y and H63D mutations in Hemochromatosis gene in native Estonians.
    European journal of epidemiology, 2001, Volume: 17, Issue:3

    Topics: Adolescent; Adult; Aged; Aged, 80 and over; Alleles; Aspartic Acid; Cysteine; DNA Mutational Analysi

2001
Population screening for HFE-associated haemochromatosis.
    Internal medicine journal, 2001, Volume: 31, Issue:8

    Topics: Aspartic Acid; Australia; Genetic Testing; Hemochromatosis; Hemochromatosis Protein; Histidine; Hist

2001
Prevalence of hemochromatosis-related symptoms among individuals with mutations in the HFE gene.
    Mayo Clinic proceedings, 2002, Volume: 77, Issue:6

    Topics: Adult; Aged; Aspartic Acid; Case-Control Studies; Cysteine; Double-Blind Method; Female; Ferritins;

2002