arginine and Microcephaly

arginine has been researched along with Microcephaly in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19901 (20.00)18.7374
1990's2 (40.00)18.2507
2000's0 (0.00)29.6817
2010's2 (40.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
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, SG1
Blaser, S; Boycott, KM; Chitayat, D; Dyment, DA; Kernohan, KD; Majewski, J; Martin, N; McBride, A; Schwartzentruber, J; Xi, Y1
Moeller, H; Nolte, R1
Ampola, MG; Breen, JC; Prasad, AN; Rosman, NP1
Duc, G; Gitzelmann, R; Steinmann, B; Superti-Furga, A1

Reviews

1 review(s) available for arginine and Microcephaly

ArticleYear
Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review.
    Journal of child neurology, 1997, Volume: 12, Issue:5

    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

Other Studies

4 other study(ies) available for arginine and Microcephaly

ArticleYear
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.
    Epilepsy research, 2014, Volume: 108, Issue:9

    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.
    Clinical genetics, 2017, Volume: 91, Issue:5

    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)].
    Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde, 1981, Volume: 129, Issue:8

    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.
    European journal of pediatrics, 1991, Volume: 150, Issue:7

    Topics: Adult; Arginine; Base Sequence; Female; Glutamine; Homozygote; Humans; Infant; Infant, Newborn; Male; Microcephaly; Molecular Sequence Data; Mothers; Mutation; Pedigree; Phenylalanine Hydroxylase; Phenylketonurias

1991