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HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY

Known as: ASPARTYL-tRNA SYNTHETASE DEFICIENCY, HBSL 
National Institutes of Health

Papers overview

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2019
2019
ABSTRACT Introduction: Leukodystrophies constitute heterogenous group of rare heritable disorders primarily affecting the white… 
Review
2018
Review
2018
  • J. Zhang, M. Liu, Y. Wu
  • Zhonghua er ke za zhi = Chinese journal of…
  • 2018
  • Corpus ID: 3822371
Objective: To analyze the clinical and imaging features of hypomyelination with brain stem and spinal cord involvement and leg… 
2018
2018
Translation of mRNA into protein is an evolutionarily conserved, fundamental process of life. A prerequisite for translation is… 
2017
2017
Leukodystrophies are genetic disorders of the myelin that affect 1 in 7000 live births, 50% of which remain undiagnosed after… 
Review
2016
Review
2016
Groundwater quality in the 3,016-square-mile Monterey– Salinas Shallow Aquifer study unit was investigated by the U.S. Geological… 
Highly Cited
2013
Highly Cited
2013
Review
2008
Review
2008
Pesticide occurrence and distribution in the lower Clackamas River basin was evaluated in 2000–2005, when 119 water samples were…