arginine has been researched along with Microcephaly in 5 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 1 (20.00) | 18.7374 |
1990's | 2 (40.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 2 (40.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Brilstra, EH; de Kovel, CG; Dib-Hajj, SD; Estacion, M; Hammer, MF; Koeleman, BP; Meisler, MH; Nijman, IJ; O'Brien, JE; van 't Slot, R; van Berkestijn, FM; van Lieshout, S; Waxman, SG | 1 |
Blaser, S; Boycott, KM; Chitayat, D; Dyment, DA; Kernohan, KD; Majewski, J; Martin, N; McBride, A; Schwartzentruber, J; Xi, Y | 1 |
Moeller, H; Nolte, R | 1 |
Ampola, MG; Breen, JC; Prasad, AN; Rosman, NP | 1 |
Duc, G; Gitzelmann, R; Steinmann, B; Superti-Furga, A | 1 |
1 review(s) available for arginine and Microcephaly
Article | Year |
---|---|
Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Arginase; Arginine; Atrophy; Cerebellum; Cerebral Cortex; Cerebral Palsy; Child; Child, Preschool; Cognition Disorders; Dietary Proteins; Disease Progression; Fatal Outcome; Female; Follow-Up Studies; Humans; Hyperargininemia; Male; Microcephaly; Models, Neurological; Muscle Spasticity; Neurodegenerative Diseases; Seizures; Treatment Outcome; Vomiting | 1997 |
4 other study(ies) available for arginine and Microcephaly
Article | Year |
---|---|
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.
Topics: Arginine; Child, Preschool; Epilepsy; Female; Glycine; HEK293 Cells; Humans; Membrane Potentials; Microcephaly; Mutation; NAV1.6 Voltage-Gated Sodium Channel; Patch-Clamp Techniques; Temperature; Transfection | 2014 |
Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.
Topics: Abnormalities, Multiple; Arginine; Brachydactyly; Child, Preschool; Chromosomes, Human, Pair 16; Face; Female; Fingers; Gene Deletion; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Microcephaly; Protein-Arginine N-Methyltransferases; Transcription Initiation Site; Wnt Signaling Pathway | 2017 |
[Arginino succinic uria. A patient with neonatal form lived as long as 11 months (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Electroencephalography; Humans; Hydrocephalus; Infant; Liver Diseases; Male; Microcephaly; Pneumonia; Seizures | 1981 |
Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation.
Topics: Adult; Arginine; Base Sequence; Female; Glutamine; Homozygote; Humans; Infant; Infant, Newborn; Male; Microcephaly; Molecular Sequence Data; Mothers; Mutation; Pedigree; Phenylalanine Hydroxylase; Phenylketonurias | 1991 |