Al-Shekaili, Hilal H
17  results:
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3

Untargeted metabolomics and infrared ion spectroscopy ident..:

Engelke, Udo Fg ; van Outersterp, Rianne E ; Merx, Jona...
Engelke , U F , van Outersterp , R E , Merx , J , van Geenen , F A , van Rooij , A , Berden , G , Huigen , M C , Kluijtmans , L A , Peters , T M , Al-Shekaili , H H , Leavitt , B R , de Vrieze , E , Broekman , S , van Wijk , E , Tseng , L A , Kulkarni , P , Rutjes , F P , Mecinović , J , Struys , E A , Jansen , L A , Gospe , S M , Mercimek-Andrews , S , Hyland , K , Willemsen , M A , Bok , L A , Van Karnebeek , C D , Wevers , R A , Boltje , T J , Oomens , J , Martens , J & Coene , K L 2021 , ' Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy ' , Journal of Clinical Investigation , vol. 131 , no. 15 , e148272 . https://doi.org/10.1172/JCI148272.  , 2021
 
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Untargeted metabolomics and infrared ion spectroscopy ident..:

Engelke, Udo F. H ; van Outersterp, Rianne E ; Merx, Jona...
Engelke , U F H , van Outersterp , R E , Merx , J , van Geenen , F A M G , van Rooij , A , Berden , G , Huigen , M C D G , Kluijtmans , L A J , Peters , T M A , Al-Shekaili , H H , Leavitt , B R , de Vrieze , E , Broekman , S , van Wijk , E , Tseng , L A , Kulkarni , P , Rutjes , F P J T , Mecinović , J , Struys , E A , Jansen , L A , Gospe , S M , Mercimek-Andrews , S , Hyland , K , Willemsen , M A A P , Bok , L A , van Karnebeek , C D M , Wevers , R A , Boltje , T J , Oomens , J , Martens , J & Coene , K L M 2021 , ' Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy ' , Journal of Clinical Investigation , vol. 131 , no. 15 , e148272 . https://doi.org/10.1172/JCI148272.  , 2021
 
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A novel mouse model for pyridoxine-dependent epilepsy due t..:

Al-Shekaili, Hilal H ; Petkau, Terri L ; Pena, Izabella...
https://research.rug.nl/en/publications/849a8267-a3b6-4dff-802e-bba36101a3df.  , 2020
 
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10

PLPHP deficiency:clinical, genetic, biochemical, and mechan..:

Johnstone, Devon L ; Al-Shekaili, Hilal H ; Tarailo-Graovac, Maja...
Care4Rare Canada Consortium , Johnstone , D L , Al-Shekaili , H H , Tarailo-Graovac , M , Wolf , N I , Ivy , A S , Demarest , S , Roussel , Y , Ciapaite , J , van Roermund , C W T , Kernohan , K D , Kosuta , C , Ban , K , Ito , Y , McBride , S , Al-Thihli , K , Abdelrahim , R A , Koul , R , Al Futaisi , A , Haaxma , C A , Olson , H , Sigurdardottir , L Y , Arnold , G L , Gerkes , E H , Boon , M , Heiner-Fokkema , M R , Noble , S , Bosma , M , Jans , J , Koolen , D A , Kamsteeg , E-J , Drögemöller , B , Ross , C J , Majewski , J , Cho , M T , Begtrup , A , Wasserman , W W , Bui , T , Brimble , E , Violante , S , Houten , S M , Wevers , R A , van Faassen , M , Kema , I P , Lepage , N , Lines , M A , Dyment , D A , Wanders , R J A , Verhoeven-Duif , N , Ekker , M & Boycott , K M 2019 , ' PLPHP deficiency : clinical, genetic, biochemical, and mechanistic insights ' , Brain , vol. 142 , pp. 542-559 . https://doi.org/10.1093/brain/awy346 ; ISSN:0006-8950.  , 2019
 
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Vitamin B6 and Related Inborn Errors of Metabolism:

H. Al-Shekaili, Hilal
https://openresearchlibrary.org/viewer/c860c073-69d5-40ed-912a-8f2a0836123f.  , 2020
 
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