phenylalanine has been researched along with Amyotonia Congenita in 5 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 3 (60.00) | 18.7374 |
1990's | 1 (20.00) | 18.2507 |
2000's | 1 (20.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Deschauer, M; Strauss, M; Swalwell, H; Taylor, RW; Zierz, S | 1 |
de Belleroche, J; Recordati, A; Rose, FC | 1 |
Artymiuk, PJ; Chang, ML; Hollán, S; Lammi, A; Maquat, LE; Wu, X | 1 |
Kar, NC; Pearson, CM | 1 |
Clayton, BE; Smith, I; Wolff, OH | 1 |
5 other study(ies) available for phenylalanine and Amyotonia Congenita
Article | Year |
---|---|
Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease.
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.
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.
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.
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.
Topics: Biopterins; Child; Child, Preschool; Deglutition Disorders; Dihydropteridine Reductase; Female; Humans; Infant; Intellectual Disability; Male; Neuromuscular Diseases; Phenylalanine; Phenylketonurias; Seizures; Tyrosine | 1975 |