proline has been researched along with alpha-L-Iduronidase Deficiency in 4 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 1 (25.00) | 18.2507 |
2000's | 1 (25.00) | 29.6817 |
2010's | 2 (50.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Abily-Donval, L; Afonso, C; Ausseil, J; Bekri, S; Brassier, A; De Lonlay, P; Gonzalez, BJ; Héron, B; Marret, S; Piraud, M; Schmitz-Afonso, I; Tebani, A; Vaz, FM; Zerimech, F | 1 |
Abily-Donval, L; Adjtoutah, Z; Bekri, S; Brasse-Lagnel, C; Chalabi Benabdellah, A; Laquerrière, A; Marret, S; Tebani, A; Zanoutene-Cheriet, L | 1 |
Arora, RS; Mercer, J; Thornley, M; Tylee, K; Wraith, JE | 1 |
Clarke, LA; Scott, HS | 1 |
4 other study(ies) available for proline and alpha-L-Iduronidase Deficiency
Article | Year |
---|---|
Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling.
Topics: Adolescent; Adult; Aged; Algorithms; Amino Acids; Arginine; Case-Control Studies; Child; Child, Preschool; Chromatography, High Pressure Liquid; Dermatan Sulfate; Female; Glutathione; Heparitin Sulfate; Humans; Infant; Keratan Sulfate; Male; Mass Spectrometry; Metabolome; Metabolomics; Middle Aged; Mucopolysaccharidosis I; Multivariate Analysis; Phenotype; Proline | 2017 |
Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series.
Topics: Adolescent; Algeria; Arginine; Child; Child, Preschool; Consanguinity; Female; Humans; Iduronidase; Infant; Male; Mucopolysaccharidosis I; Polymorphism, Single Nucleotide; Proline; Young Adult | 2016 |
Enzyme replacement therapy in 12 patients with MPS I-H/S with homozygous p.Leu490Pro mutation.
Topics: Adolescent; Adult; Child; Child, Preschool; Cohort Studies; Female; Homozygote; Humans; Iduronidase; Leucine; Male; Mucopolysaccharidosis I; Mutation, Missense; Pakistan; Pedigree; Proline; Recombinant Proteins; Treatment Outcome; United Kingdom | 2007 |
Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.
Topics: Amino Acid Sequence; Base Sequence; DNA Mutational Analysis; DNA Primers; DNA, Single-Stranded; Exons; Female; Genes, Recessive; Histidine; Humans; Iduronidase; Male; Molecular Sequence Data; Mucopolysaccharidosis I; Pedigree; Point Mutation; Polymerase Chain Reaction; Proline; Restriction Mapping | 1993 |