valine and ARSA Deficiency

valine has been researched along with ARSA Deficiency in 2 studies

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Gieselmann, V; Marcão, AM; Miranda, MC; Schindler, K; Schroth, G; Sturzenegger, M; Weis, J; Wiesmann, U; Wiest, R1
Dietz, F; Gieselmann, V; Habetha, M; Klein, RA; Poeppel, P; Schestag, F; Yaghootfam, A; Zlotogora, J1

Other Studies

2 other study(ies) available for valine and ARSA Deficiency

ArticleYear
Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene.
    Archives of neurology, 2005, Volume: 62, Issue:2

    Topics: Adult; Animals; Animals, Newborn; Brain; Cells, Cultured; Cerebroside-Sulfatase; Citric Acid; Cricetinae; DNA Mutational Analysis; Electrophoresis, Gel, Pulsed-Field; Endoplasmic Reticulum; Evoked Potentials; Exons; Female; Gene Expression; Humans; Kidney; Leukodystrophy, Metachromatic; Magnetic Resonance Imaging; Microscopy, Electron, Transmission; Mutagenesis; Mutation; Peripheral Nerves; Phenylalanine; Quaternary Ammonium Compounds; Sural Nerve; Transfection; Valine

2005
The functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A.
    The Biochemical journal, 2002, Oct-15, Volume: 367, Issue:Pt 2

    Topics: Adolescent; Amino Acid Substitution; Animals; Antibodies, Monoclonal; Arginine; Cells, Cultured; Cerebroside-Sulfatase; Child, Preschool; Enzyme Stability; Golgi Apparatus; Humans; Leukodystrophy, Metachromatic; Mutation, Missense; Phosphorylation; Salts; Transfection; Tryptophan; Valine

2002