Compounds > proline

proline and alpha-L-Iduronidase Deficiency

proline has been researched along with alpha-L-Iduronidase Deficiency in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (25.00)18.2507
2000's1 (25.00)29.6817
2010's2 (50.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
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, F1
Abily-Donval, L; Adjtoutah, Z; Bekri, S; Brasse-Lagnel, C; Chalabi Benabdellah, A; Laquerrière, A; Marret, S; Tebani, A; Zanoutene-Cheriet, L1
Arora, RS; Mercer, J; Thornley, M; Tylee, K; Wraith, JE1
Clarke, LA; Scott, HS1

Other Studies

4 other study(ies) available for proline and alpha-L-Iduronidase Deficiency

ArticleYear
Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling.
    Clinica chimica acta; international journal of clinical chemistry, 2017, Volume: 475

    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.
    International journal of molecular sciences, 2016, May-17, Volume: 17, Issue:5

    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.
    Journal of inherited metabolic disease, 2007, Volume: 30, Issue:5

    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.
    Human molecular genetics, 1993, Volume: 2, Issue:8

    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