Ben-Omran T
343  Ergebnisse:
Personensuche X
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1

P.33 Novel dietary management strategies for classical homo..:

Thomas, J ; Ben-Omran, T ; Levy, H...
Molecular Genetics and Metabolism.  141 (2024)  - p. 108399 , 2024
 
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7

Nusinersen initiated in infants during the presymptomatic s..:

De Vivo DC ; Bertini E ; Swoboda KJ...
info:eu-repo/semantics/altIdentifier/pmid/31704158.  , 2019
 
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8

Evidence-Based Consensus and Systematic Review on Reducing ..:

Aartsma-Rus A ; Hegde M ; Ben-Omran T...
info:eu-repo/semantics/altIdentifier/pmid/30579468.  , 2019
 
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9

Expanding the genetic heterogeneity of intellectual disabil..:

Anazi, S ; Maddirevula, S ; Salpietro, V...
https://discovery.ucl.ac.uk/id/eprint/1576522/3/Lashley_Anazi%20S%20et%20al.pdf.  , 2017
 
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11

Guidelines for acute management of hyperammonemia in the Mi..:

Alfadhel M ; Al Mutairi F ; Makhseed N...
https://www.dovepress.com/guidelines-for-acute-management-of-hyperammonemia-in-the-middle-east-r-peer-reviewed-article-TCRM.  , 2016
 
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13

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate C..:

Nota, B ; Struys, E.A ; Pop, A...
Nota , B , Struys , E A , Pop , A , Jansen , E E , Ojeda , M R F , Kanhai , W A , Kranendijk , M , van Dooren , S J M , Bevova , M R , Sistermans , E A , Nieuwint , A W M , Barth , M , Ben-Omran , T , Hoffmann , G F , de Lonlay , P , McDonald , M T , Meberg , A , Muntau , A C , Nuoffer , J M , Parini , R , Read , M H , Renneberg , A , Santer , R , Strahleck , T , van Schaftingen , E , van der Knaap , M S , Jakobs , C A J M & Salomons , G S 2013 , ' Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2-and L-2-Hydroxyglutaric Aciduria ' , American Journal of Human Genetics , vol. 92 , no. 4 , pp. 627-631 . https://doi.org/10.1016/j.ajhg.2013.03.009.  , 2013
 
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15

Hyperinsulinism-hyperammonaemia syndrome: novel mutations i..:

Kapoor, R. R ; Flanagan, S. E ; Fulton, P...
https://discovery.ucl.ac.uk/id/eprint/20123/1/20123.pdf.  , 2009
 
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