Literature DB >> 32816236

Deficiency of alkaline ceramidase 3 with infancy-onset progressive leukoencephalopathy: a second case report.

Huseyin Kilic1, Mustafa Dogan2, Sezgin Sahin3, Sema Saltik4, Cengiz Yalcinkaya5.   

Abstract

Entities:  

Keywords:  Alkaline ceramidase 3; Genetic leukoencephalopathy; Leukodystrophy; Whole exome sequencing

Mesh：

Substances：

Year:  2020        PMID： 32816236     DOI： 10.1007/s13760-020-01474-4

Source DB:  PubMed          Journal:  Acta Neurol Belg        ISSN： 0300-9009            Impact factor:   2.396


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  4 in total

Review 1.  Human genetic disorders of sphingolipid biosynthesis.

Authors:  Leonardo Astudillo; Frédérique Sabourdy; Nicole Therville; Heiko Bode; Bruno Ségui; Nathalie Andrieu-Abadie; Thorsten Hornemann; Thierry Levade
Journal:  J Inherit Metab Dis       Date:  2014-08-21       Impact factor: 4.982

2.  [Editorial: Medical ethics in medical care services].

Authors:  P Kassab
Journal:  AMB Rev Assoc Med Bras       Date:  1973-12

Review 3.  A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.

Authors:  Sumit Parikh; Geneviève Bernard; Marc C Patterson; Ryan J Taft; Adeline Vanderver; Richard J Leventer; Marjo S van der Knaap; Johan van Hove; Amy Pizzino; Nathan H McNeill; Guy Helman; Cas Simons; Johanna L Schmidt; William B Rizzo
Journal:  Mol Genet Metab       Date:  2014-12-29       Impact factor: 4.797

4.  Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy.

Authors:  Simon Edvardson; Jae Kyo Yi; Chaim Jalas; Ruijuan Xu; Bryn D Webb; Justin Snider; Anastasia Fedick; Elisheva Kleinman; Nathan R Treff; Cungui Mao; Orly Elpeleg
Journal:  J Med Genet       Date:  2016-01-20       Impact factor: 6.318
  4 in total
  1 in total

1.  ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants.

Authors:  Ali Zare Dehnavi; Erfan Heidari; Maryam Rasulinezhad; Morteza Heidari; Mahmoud Reza Ashrafi; Mohammad Mahdi Hosseini; Fatemeh Sadeghzadeh; Mohammad-Sadegh Fallah; Noushin Rostampour; Amir Bahraini; Masoud Garshasbi; Ali Reza Tavasoli
Journal:  Hum Genomics       Date:  2021-07-19       Impact factor: 4.639
  1 in total

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