Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort
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Author / Creator
Alharby, Essa , Faqeih, Eissa A. , Saleh, Mohammed , Alameer, Seham , Almuntashri, Makki , Pastore, Annalisa , Samman, Manar A. , Alnawfal, Abdullah M. , Hashem, Mais , Zaytuni, Dimah , Alharbi, Ghadeer , Almannai, Mohammed , Alasmari, Ali , Mahmoud, Adel A. , Alwadei, Ali H. , Jad, Lamya , AlOtaibi, Ali , Al-Hakami, Fahad , Eyaid, Wafaa , Alkuraya, Fowzan S. , Alfadhel, Majid , Peake, Roy W. A. and Almontashiri, Naif A. M.
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publication information
Publisher
New York: Nature Publishing Group US
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More information
Scope and Contents
Contents
Purpose
Asparagine synthetase deficiency (ASNSD) is a rare neurometabolic disease. Patients may not demonstrate low asparagine levels, which highlights the advantage of molecular over biochemical testing in the initial work-up of ASNSD. We aimed to further delineate the ASNSD variant and phenotypic spectrum and determine the value of biochemical...
Alternative Titles
Full title
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort
Authors, Artists and Contributors
Author / Creator
Faqeih, Eissa A.
Saleh, Mohammed
Alameer, Seham
Almuntashri, Makki
Pastore, Annalisa
Samman, Manar A.
Alnawfal, Abdullah M.
Hashem, Mais
Zaytuni, Dimah
Alharbi, Ghadeer
Almannai, Mohammed
Alasmari, Ali
Mahmoud, Adel A.
Alwadei, Ali H.
Jad, Lamya
AlOtaibi, Ali
Al-Hakami, Fahad
Eyaid, Wafaa
Alkuraya, Fowzan S.
Alfadhel, Majid
Peake, Roy W. A.
Almontashiri, Naif A. M.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2430095755
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2430095755
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-020-0919-x
