proline and Gaucher Disease

proline has been researched along with Gaucher Disease in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's5 (100.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Andria, G; Farina, V; Filocamo, M; Grillo, G; Guidi, G; Parenti, G; Rizzolo, MG; Rotondo, A; Santamaria, F; Sarnelli, P; Strisciuglio, P1
Ben-Yoseph, Y; Choy, FY; Humphries, ML1
Tanno, Y; Tsuji, S; Yoneda, M1
Berg, A; Goldberg, L; Grabowski, GA; Grace, ME; He, GS; Horowitz, M1
Masuno, M; Orii, T; Sukegawa, K; Tomatsu, S1

Other Studies

5 other study(ies) available for proline and Gaucher Disease

ArticleYear
Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes?
    American journal of respiratory and critical care medicine, 1998, Volume: 157, Issue:3 Pt 1

    Topics: Adolescent; Adult; Blood Gas Monitoring, Transcutaneous; Cause of Death; Child; Child, Preschool; Echocardiography; Female; Gaucher Disease; Genotype; Homozygote; Humans; Hypertension, Pulmonary; Infant; Italy; Leucine; Lung; Lung Diseases; Lung Diseases, Interstitial; Male; Middle Aged; Oxygen; Oxygen Consumption; Pneumonia, Aspiration; Point Mutation; Proline; Prospective Studies; Respiratory Function Tests; Risk Factors; Tomography, X-Ray Computed; Vascular Diseases

1998
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; Point Mutation; Proline; Tyrosine

1998
[Molecular genetic analysis of neurologic diseases].
    Human cell, 1990, Volume: 3, Issue:4

    Topics: Amino Acid Sequence; Base Sequence; Epilepsies, Myoclonic; Gaucher Disease; Glucosylceramidase; Homozygote; Humans; Leucine; Molecular Sequence Data; Mutation; Proline; RNA; RNA, Mitochondrial; RNA, Transfer, Lys

1990
Gaucher disease: heterologous expression of two alleles associated with neuronopathic phenotypes.
    American journal of human genetics, 1991, Volume: 49, Issue:3

    Topics: Acute Disease; Alleles; Animals; Arginine; Baculoviridae; beta-Glucosidase; Cell Line; Cells, Cultured; Gaucher Disease; Gene Expression; Humans; Immunoblotting; Insecta; Leucine; Lysosomes; Mutagenesis, Site-Directed; Phenotype; Proline

1991
Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form.
    Human genetics, 1990, Volume: 84, Issue:2

    Topics: Deoxyribonucleases, Type II Site-Specific; Female; Gaucher Disease; Humans; Leucine; Male; Mutation; Pedigree; Phenotype; Polymorphism, Restriction Fragment Length; Proline

1990