Literature DB >> 2567279

Dicarboxylic aminoaciduria associated with mental retardation.

M Swarna1, D N Rao, P P Reddy.   

Abstract

Five hundred mentally retarded children (of both sexes and under 15 years of age) referred to our institute were screened for aminoacid disorders. One case of dicarboxylic aminoaciduria was found in a girl.

Entities:  

Mesh：

Substances：

Year:  1989        PMID： 2567279     DOI： 10.1007/BF00291178

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  2 in total

1.  Characteristics of acidic amino acid transport in mammalian kidney.

Authors:  W A WEBBER
Journal:  Can J Biochem Physiol       Date:  1963-01

2.  Dicarboxylic aminoaciduria: an inborn error of glutamate and aspartate transport with metabolic implications, in combination with a hyperprolinemia.

Authors:  H L Teijema; H H van Gelderen; M A Giesberts; M S Laurent de Angulo
Journal:  Metabolism       Date:  1974-02       Impact factor: 8.694
  2 in total
  4 in total

1.  Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria.

Authors:  Charles G Bailey; Renae M Ryan; Annora D Thoeng; Cynthia Ng; Kara King; Jessica M Vanslambrouck; Christiane Auray-Blais; Robert J Vandenberg; Stefan Bröer; John E J Rasko
Journal:  J Clin Invest       Date:  2010-12-01       Impact factor: 14.808

2.  Glutamate transporter EAAC-1-deficient mice develop dicarboxylic aminoaciduria and behavioral abnormalities but no neurodegeneration.

Authors:  P Peghini; J Janzen; W Stoffel
Journal:  EMBO J       Date:  1997-07-01       Impact factor: 11.598

3.  Recessive gene disruptions in autism spectrum disorder.

Authors:  Ryan N Doan; Elaine T Lim; Silvia De Rubeis; Catalina Betancur; David J Cutler; Andreas G Chiocchetti; Lynne M Overman; Aubrie Soucy; Susanne Goetze; Christine M Freitag; Mark J Daly; Christopher A Walsh; Joseph D Buxbaum; Timothy W Yu
Journal:  Nat Genet       Date:  2019-06-17       Impact factor: 38.330

Review 4.  Amino Acid Transport Defects in Human Inherited Metabolic Disorders.

Authors:  Raquel Yahyaoui; Javier Pérez-Frías
Journal:  Int J Mol Sci       Date:  2019-12-23       Impact factor: 5.923
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.