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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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2020
2020
Groundwater age distributions developed from carbon-14 (14C), tritium (3H), and helium-4 (4He) concentrations, along with aquifer… Expand
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2019
2019
ABSTRACT Introduction: Leukodystrophies constitute heterogenous group of rare heritable disorders primarily affecting the white… Expand
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2018
2018
Translation of mRNA into protein is an evolutionarily conserved, fundamental process of life. A prerequisite for translation is… Expand
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Review
2018
Review
2018
Objective: To analyze the clinical and imaging features of hypomyelination with brain stem and spinal cord involvement and leg… Expand
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2017
2017
BACKGROUND The recently diagnosed leukodystrophy Hypomyelination with Brain stem and Spinal cord involvement and Leg spasticity… Expand
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2017
2017
Leukodystrophies are genetic disorders of the myelin that affect 1 in 7000 live births, 50% of which remain undiagnosed after… Expand
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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… Expand
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Highly Cited
2013
Highly Cited
2013
Inherited white-matter disorders are a broad class of diseases for which treatment and classification are both challenging… Expand
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Review
2008
Review
2008
Pesticide occurrence and distribution in the lower Clackamas River basin was evaluated in 2000–2005, when 119 water samples were… Expand
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