Literature DB >> 31093932

Selective Pyramidal Tract Involvement in Late-Onset Krabbe Disease.

Shruthi N Michael1, Priyanka Madaan1, Prashant Jauhari2, Biswaroop Chakrabarty1, Atin Kumar3, Sheffali Gulati1.   

Abstract

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Year:  2019        PMID： 31093932     DOI： 10.1007/s12098-019-02972-x

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  5 in total

1.  Peroxisomal acyl CoA oxidase deficiency.

Authors:  Yasuyuki Suzuki; Mizue Iai; Atsushi Kamei; Yuzo Tanabe; Shoichi Chida; Seiji Yamaguchi; Zhongyi Zhang; Yasuhiko Takemoto; Nobuyuki Shimozawa; Naomi Kondo
Journal:  J Pediatr       Date:  2002-01       Impact factor: 4.406

2.  Krabbe's disease: clinical presentation of neurological variants.

Authors:  B Hagberg
Journal:  Neuropediatrics       Date:  1984-09       Impact factor: 1.947

3.  Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitro.

Authors:  Inge Krägeloh-Mann; Klaus Harzer; Kevin Rostásy; Stefanie Beck-Wödl; Antje Bornemann; Judith Böhringer; Andrea Bevot; Verena Beck; Gisela Merkel; Maria Pechan
Journal:  Eur J Paediatr Neurol       Date:  2017-01-06       Impact factor: 3.140

4.  Late infantile onset krabbe disease in siblings with cortical degeneration and absence of cerebral globoid cells.

Authors:  M R Del Bigio; A E Chudley; F A Booth; S Pacin
Journal:  Neuropediatrics       Date:  2004-10       Impact factor: 1.947

5.  Later onset phenotypes of Krabbe disease: results of the world-wide registry.

Authors:  Patricia K Duffner; Amy Barczykowski; Denise M Kay; Kabir Jalal; Li Yan; Ahmed Abdelhalim; Steven Gill; Ann Lindley Gill; Randy Carter
Journal:  Pediatr Neurol       Date:  2012-05       Impact factor: 3.372
  5 in total
  1 in total

1.  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
  1 in total

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