Literature DB >> 31812852

Homozygous B4GALNT1 mutation and biochemical glutaric acidemia type II: A case report.

Laura Rose1, Katherine Hall1, Sha Tang2, Linda Hasadsri3, Virginia Kimonis4.   

Abstract

Entities:  

Keywords:  Glutaric acidemia; Hereditary spastic paraplegia

Mesh：

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Year:  2019        PMID： 31812852     DOI： 10.1016/j.clineuro.2019.105553

Source DB:  PubMed          Journal:  Clin Neurol Neurosurg        ISSN： 0303-8467            Impact factor:   1.876


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  2 in total

1.  The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central-Southern China.

Authors:  Chen Wang; Yun-Jian Zhang; Ci-Hao Xu; Zhi-Jun Liu; Yan Wu
Journal:  Mol Genet Genomic Med       Date:  2021-02-27       Impact factor: 2.183

2.  Plasma Membrane Calcium ATPase-Neuroplastin Complexes Are Selectively Stabilized in GM1-Containing Lipid Rafts.

Authors:  Katarina Ilic; Xiao Lin; Ayse Malci; Mario Stojanović; Borna Puljko; Marko Rožman; Željka Vukelić; Marija Heffer; Dirk Montag; Ronald L Schnaar; Svjetlana Kalanj-Bognar; Rodrigo Herrera-Molina; Kristina Mlinac-Jerkovic
Journal:  Int J Mol Sci       Date:  2021-12-18       Impact factor: 5.923
  2 in total

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