proline has been researched along with Gaucher Disease in 5 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 5 (100.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Andria, G; Farina, V; Filocamo, M; Grillo, G; Guidi, G; Parenti, G; Rizzolo, MG; Rotondo, A; Santamaria, F; Sarnelli, P; Strisciuglio, P | 1 |
Ben-Yoseph, Y; Choy, FY; Humphries, ML | 1 |
Tanno, Y; Tsuji, S; Yoneda, M | 1 |
Berg, A; Goldberg, L; Grabowski, GA; Grace, ME; He, GS; Horowitz, M | 1 |
Masuno, M; Orii, T; Sukegawa, K; Tomatsu, S | 1 |
5 other study(ies) available for proline and Gaucher Disease
Article | Year |
---|---|
Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes?
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.
Topics: Aspartic Acid; Female; France; Gaucher Disease; Glucosylceramidase; Humans; Infant; Ireland; Lysine; Point Mutation; Proline; Tyrosine | 1998 |
[Molecular genetic analysis of neurologic diseases].
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.
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.
Topics: Deoxyribonucleases, Type II Site-Specific; Female; Gaucher Disease; Humans; Leucine; Male; Mutation; Pedigree; Phenotype; Polymorphism, Restriction Fragment Length; Proline | 1990 |