Compounds > proline

proline and ARSA Deficiency

proline has been researched along with ARSA Deficiency in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's3 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Aboul-Enein, F; Baumann, N; Berger, J; Bernheimer, H; Colsch, B; Cox, T; Gieselmann, V; Krammer, M; Krivit, W; Lefevre, M; LeGuern, E; Moser, A; Moser, H; Olivier, C; Rauschka, H; Reuner, U; Schmidbauer, M; Tardieu, S; Turpin, JC; Tylki-Szymanska, A; Wevers, R; Zalc, B1
Gieselmann, V1
Chabás, A; Coll, MJ; Gort, L1

Other Studies

3 other study(ies) available for proline and ARSA Deficiency

ArticleYear
Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype.
    Neurology, 2006, Sep-12, Volume: 67, Issue:5

    Topics: Adolescent; Adult; Cerebroside-Sulfatase; Child; Electroencephalography; Female; Genotype; Humans; Isoleucine; Leucine; Leukodystrophy, Metachromatic; Magnetic Resonance Imaging; Male; Mutation; Neural Conduction; Phenotype; Proline; Statistics, Nonparametric

2006
Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options.
    Acta paediatrica (Oslo, Norway : 1992), 2008, Volume: 97, Issue:457

    Topics: Animals; Disease Models, Animal; Hematopoietic Stem Cell Transplantation; Humans; Leucine; Leukodystrophy, Metachromatic; Mice; Mice, Transgenic; Mutation, Missense; Phenotype; Proline

2008
Metachromatic leukodystrophy: a novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation.
    Human mutation, 2000, Volume: 16, Issue:4

    Topics: Adult; Amino Acid Substitution; Cerebroside-Sulfatase; Haplotypes; Humans; Leucine; Leukodystrophy, Metachromatic; Mutation, Missense; Proline; Sequence Deletion

2000