Keyword Analysis & Research: asparagine synthetase deficiency disorder


Keyword Analysis

Keyword CPC PCC Volume Score Length of keyword
asparagine synthetase deficiency disorder1.580.352983141
asparagine1.360.962117710
synthetase1.640.895849110
deficiency0.720.275703610
disorder0.540.16782208

Keyword Research: People who searched asparagine synthetase deficiency disorder also searched

Keyword CPC PCC Volume Score
asparagine synthetase deficiency disorder0.90.1573370

Search Results related to asparagine synthetase deficiency disorder on Search Engine

  • Asparagine Synthetase Deficiency - GeneReviews®

    nih.gov

    https://www.ncbi.nlm.nih.gov/books/NBK525916/

    Sep 20, 2018 · Asparagine synthetase deficiency (ASD) mainly presents as a triad of congenitalmicrocephaly, severe developmental delay, and axial hypotonia followed by spastic quadriplegia. Low cerebrospinal fluid (CSF) asparagine level can help the clinician in differentiating this disorder from others. Author: Majid Alfadhel, Ayman W El-Hattab Publish Year: 2018

    Author: Majid Alfadhel, Ayman W El-Hattab

    Publish Year: 2018

    DA: 63 PA: 93 MOZ Rank: 33

  • Asparagine synthetase deficiency - Conditions - GTR - NCBI

    nih.gov

    https://www.ncbi.nlm.nih.gov/gtr/conditions/C3809971/

    Asparagine synthetase deficiency (ASD) mainly presents as a triad of congenital microcephaly, severe developmental delay, and axial hypotonia followed by spastic quadriplegia. Low cerebrospinal fluid (CSF) asparagine level can help the …

    DA: 83 PA: 57 MOZ Rank: 77

  • Asparagine Synthetase Deficiency - PubMed

    nih.gov

    https://pubmed.ncbi.nlm.nih.gov/30234940/

    Sep 20, 2018 · Clinical characteristics: Asparagine synthetase deficiency (ASD) mainly presents as a triad of congenital microcephaly, severe developmental delay, and axial hypotonia followed by spastic quadriplegia. Low cerebrospinal fluid (CSF) asparagine level can help the clinician in differentiating this disorder from others. Author: Majid Alfadhel, Ayman W El-Hattab Publish Year: 2018

    Author: Majid Alfadhel, Ayman W El-Hattab

    Publish Year: 2018

    DA: 37 PA: 14 MOZ Rank: 53

  • Asparagine Synthetase Deficiency causes reduced proliferation of …

    nih.gov

    https://pubmed.ncbi.nlm.nih.gov/26318253/

    Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine. Asparagine Synthetase Deficiency is a recently described cause of profound intellectual disability, marked progressive cerebral atrophy and … Author: Elizabeth Emma Palmer, Elizabeth Emma Palmer, Jaclyn Hayner, Rani Sachdev, Rani Sachdev, Michael Car... Publish Year: 2015

    Author: Elizabeth Emma Palmer, Elizabeth Emma Palmer, Jaclyn Hayner, Rani Sachdev, Rani Sachdev, Michael Car...

    Publish Year: 2015

    DA: 63 PA: 94 MOZ Rank: 55

  • Asparagine synthetase deficiency - medlineplus.gov

    medlineplus.gov

    https://medlineplus.gov/download/genetics/condition/asparagine-synthetase-deficiency.pdf

    Description. Asparagine synthetase deficiency is a condition that causes neurological problems in affected individuals starting soon after birth. Most people with this condition have an unusually small head size (microcephaly) that worsens over time due to loss (atrophy) of brain tissue.

    DA: 1 PA: 14 MOZ Rank: 16

  • Asparagine synthetase deficiency: A novel case with an …

    sciencedirect.com

    https://www.sciencedirect.com/science/article/pii/S2214426919301089

    Dec 01, 2019 · Asparagine synthetase deficiency (ASNSD) (OMIM#615574) is a newly described rare autosomal recessive neurodevelopmental disease. To date, all cases of ASNSD have been identified through exome sequencing. Asparagine is a nonessential amino acid synthetized by asparagine synthetase (AS) via the transfer of ammonia from glutamine to …

    DA: 90 PA: 9 MOZ Rank: 31