phenylalanine and Amyotonia Congenita

phenylalanine has been researched along with Amyotonia Congenita in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19903 (60.00)18.7374
1990's1 (20.00)18.2507
2000's1 (20.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Deschauer, M; Strauss, M; Swalwell, H; Taylor, RW; Zierz, S1
de Belleroche, J; Recordati, A; Rose, FC1
Artymiuk, PJ; Chang, ML; Hollán, S; Lammi, A; Maquat, LE; Wu, X1
Kar, NC; Pearson, CM1
Clayton, BE; Smith, I; Wolff, OH1

Other Studies

5 other study(ies) available for phenylalanine and Amyotonia Congenita

ArticleYear
Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease.
    Archives of neurology, 2006, Volume: 63, Issue:6

    Topics: Age of Onset; Aged; DNA Mutational Analysis; Electron Transport Complex IV; Female; Humans; Microscopy, Electron, Transmission; Muscle, Skeletal; Mutation; Neuromuscular Diseases; Phenylalanine; RNA; RNA, Mitochondrial; RNA, Transfer

2006
Elevated levels of amino acids in the CSF of motor neuron disease patients.
    Neurochemical pathology, 1984,Spring, Volume: 2, Issue:1

    Topics: Adult; Aged; Amino Acids; Aspartic Acid; Female; Glycine; Humans; Isoleucine; Lysine; Male; Middle Aged; Motor Neurons; Neuromuscular Diseases; Phenylalanine; Taurine; Threonine

1984
Human triosephosphate isomerase deficiency resulting from mutation of Phe-240.
    American journal of human genetics, 1993, Volume: 52, Issue:6

    Topics: Adolescent; Adult; Anemia, Hemolytic; Base Sequence; Cells, Cultured; DNA; Enzyme Stability; Homozygote; Hot Temperature; Humans; Male; Molecular Sequence Data; Mutation; Neuromuscular Diseases; Phenylalanine; RNA, Messenger; Triose-Phosphate Isomerase

1993
Acetyl-DL-phenylalanine beta-naphthyl esterase activity in human muscle disease.
    Biochemical medicine, 1978, Volume: 20, Issue:1

    Topics: Adolescent; Adult; Aged; Carboxylic Ester Hydrolases; Child; Child, Preschool; Esterases; Humans; Hydrogen-Ion Concentration; Hydrolysis; Middle Aged; Muscles; Muscular Diseases; Neuromuscular Diseases; Phenylalanine; Substrate Specificity

1978
New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction.
    Lancet (London, England), 1975, May-17, Volume: 1, Issue:7916

    Topics: Biopterins; Child; Child, Preschool; Deglutition Disorders; Dihydropteridine Reductase; Female; Humans; Infant; Intellectual Disability; Male; Neuromuscular Diseases; Phenylalanine; Phenylketonurias; Seizures; Tyrosine

1975