glutamic acid and Neurocutaneous Disorders

glutamic acid has been researched along with Neurocutaneous Disorders in 1 studies

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Aftimos, S; Bicknell, LS; Maw, MA; Pitt, J; Ramadas, R; Robertson, SP1

Other Studies

1 other study(ies) available for glutamic acid and Neurocutaneous Disorders

ArticleYear
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.
    European journal of human genetics : EJHG, 2008, Volume: 16, Issue:10

    Topics: Adult; Aldehyde Dehydrogenase; Amino Acid Sequence; Base Sequence; Child; Child, Preschool; Conserved Sequence; Diagnosis, Differential; Female; Fibroblasts; Genes, Recessive; Glutamic Acid; Histidine; Humans; Immunohistochemistry; Male; Molecular Sequence Data; Mutation, Missense; Neurocutaneous Syndromes; New Zealand; Ornithine-Oxo-Acid Transaminase; Pedigree; Phenotype; Proline; Sequence Homology, Amino Acid

2008