Literature DB >> 11102982

Mutational analysis of GLUT1 (SLC2A1) in glut-1 deficiency syndrome; dong wang; pamela kranz-eble; darryl C. De vivo; (Article was originally published in human mutation 16:224-231, 2000)

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Abstract

An error was made in the reproduction of Figure 2. Therefore, the corrected version is being reprinted here.

Entities:  

Year:  2000        PMID: 11102982     DOI: 10.1002/1098-1004(200012)16:6<518::AID-HUMU9>3.0.CO;2-Q

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  3 in total

Review 1.  Inherited epithelial transporter disorders--an overview.

Authors:  M J Bergeron; A Simonin; M Bürzle; M A Hediger
Journal:  J Inherit Metab Dis       Date:  2008-04-14       Impact factor: 4.982

2.  Treatment of myoclonic-atonic epilepsy caused by SLC2A1 de novo mutation with ketogenic diet: A case report.

Authors:  Zihan Wei; Luojun Wang; Yanchun Deng
Journal:  Medicine (Baltimore)       Date:  2019-05       Impact factor: 1.817

3.  Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.

Authors:  Federica Graziola; Giacomo Garone; Fabrizia Stregapede; Luca Bosco; Federico Vigevano; Paolo Curatolo; Enrico Bertini; Lorena Travaglini; Alessandro Capuano
Journal:  Front Genet       Date:  2019-10-29       Impact factor: 4.599

  3 in total

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