Literature DB >> 25691190

White matter changes in GM1 gangliosidosis.

Moni Tuteja1, Abdul Mueed Bidchol, Katta Mohan Girisha, Shubha Phadke.   

Abstract

BACKGROUND: GM1 gangliosidosis is a disorder due to GLB1 gene mutation. CASE CHARACTERISTICS: A 4-yr-old boy with neuroregression and optic atrophy with periventricular hyperintensity on magnetic resonance imaging. OUTCOME: Beta galactosidase enzyme activity was low which was confirmed by GLB1 sequencing. MESSAGE: We highlight the white matter changes in late infantile GM1 gangliosidosis.

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Mesh：

Year:  2015        PMID： 25691190     DOI： 10.1007/s13312-015-0593-2

Source DB:  PubMed          Journal:  Indian Pediatr        ISSN： 0019-6061            Impact factor:   1.411


  6 in total

Review 1.  Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities.

Authors:  Gustavo H B Maegawa
Journal:  J Child Neurol       Date:  2019-02-13       Impact factor: 1.987

2.  Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India.

Authors:  Vykuntaraju K Gowda; Priya Gupta; Narmadham K Bharathi; Maya Bhat; Sanjay K Shivappa; Naveen Benakappa
Journal:  J Pediatr Genet       Date:  2020-10-19

Review 3.  In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.

Authors:  Erica B Sherry; Phil Lee; In-Young Choi
Journal:  Neurochem Res       Date:  2015-11-26       Impact factor: 3.996

4.  Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.

Authors:  Parneet Kaur; Michelle C do Rosario; Malavika Hebbar; Suvasini Sharma; Neethukrishna Kausthubham; Karthik Nair; Shrikiran A; Ramesh Bhat Y; Leslie Edward S Lewis; Sheela Nampoothiri; Siddaramappa J Patil; Narayanaswami Suresh; Sunita Bijarnia Mahay; Ratna Dua Puri; Shivanand Pai; Anupriya Kaur; Rakshith Kc; Nutan Kamath; Shruti Bajaj; Ali Kumble; Rajesh Shetty; Rathika Shenoy; Mahesh Kamate; Hitesh Shah; Mamta N Muranjan; Yatheesha Bl; K Shreedhara Avabratha; Girish Subramaniam; Rajagopal Kadavigere; Stephanie Bielas; Katta Mohan Girisha; Anju Shukla
Journal:  Clin Genet       Date:  2021-07-30       Impact factor: 4.438

5.  Cysts in White Matter: A Novel Neuroimaging Finding in Infantile GM1 Gangliosidosis.

Authors:  Mahesh Kamate
Journal:  Ann Indian Acad Neurol       Date:  2018 Jan-Mar       Impact factor: 1.383

6.  The juvenile gangliosidoses: A timeline of clinical change.

Authors:  Kelly E King; Sarah Kim; Chester B Whitley; Jeanine R Jarnes-Utz
Journal:  Mol Genet Metab Rep       Date:  2020-11-14
  6 in total

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