نتائج البحث

The 1‐ 13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes

• Authors : Welsink-Karssies, M.M.; van Harskamp, D.; Ferdinandusse, S.

Subjects: (co2)-c-13; c-13; galactose oxidation

• Source: Welsink-Karssies , M M , van Harskamp , D , Ferdinandusse , S , Hollak , C E M , Huidekoper , H H , Janssen , M C H , Kemper , E M , Langendonk , J G , Rubio-Gozalbo , M E , de Vries , M C , Wijburg ,

تفاصيل العنوان

Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake

• Authors : Treacy, Eileen P; Vencken, Sebastian; Bosch, Annet M

• Source: Treacy , E P , Vencken , S , Bosch , A M , Gautschi , M , Rubio-Gozalbo , E , Dawson , C , Nerney , D , Colhoun , H O , Shakerdi , L , Pastores , G M , O'Flaherty , R & Saldova , R 2021 , ' Abnormal

تفاصيل العنوان

[13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis

• Authors : Ficicioglu, Can; Demirbas, Didem; Derks, Britt

• Source: Ficicioglu , C , Demirbas , D , Derks , B , Pai , G S , Timson , D J , Rubio-Gozalbo , M E & Berry , G T 2021 , ' [13C]-galactose breath test in a patient with

تفاصيل العنوان

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

• Authors : Panis, Bianca; Vos, E. Naomi; Baric, Ivo

Subjects: brain; classic galactosemia; cognitive problems

• Source: Panis , B , Vos , E N , Baric , I , Bosch , A M , Brouwers , M C G J , Burlina , A , Cassiman , D , Coman , D J , Couce , M L , Das , A M , Demirbas , D , Empain , A , Gautschi , M , Grafakou , O ,

تفاصيل العنوان

Current and Future Treatments for Classic Galactosemia

• Authors : Delnoy, B.; Coelho, A.I.; Rubio-Gozalbo, M.E.

Subjects: babble boot camp (bbc); classic galactosemia; galactose 1-phosphate uridylyltransferase (galt)

• Source: Delnoy , B , Coelho , A I & Rubio-Gozalbo , M E 2021 , ' Current and Future Treatments for Classic Galactosemia ' , Journal of Personalized Medicine , vol. 11 , no. 2 , 75 .

تفاصيل العنوان

Pathophysiology and targets for treatment in hereditary galactosemia:A systematic review of animal and cellular models

• Authors : Haskovic, Minela; Coelho, Ana I.; Bierau, Jorgen

Subjects: animal models; cellular models; hereditary galactosemia

• Source: Haskovic , M , Coelho , A I , Bierau , J , Vanoevelen , J M , Steinbusch , L K M , Zimmermann , L J I , Villamor-Martinez , E , Berry , G T & Rubio-Gozalbo , M E 2020 , ' Pathophysiology and targets

تفاصيل العنوان

Nucleotide sugar profiles throughout development in wildtype andgaltknockout zebrafish

• Authors : Haskovic, Minela; Coelho, Ana I.; Lindhout, Martijn

Subjects: galactosemia; GALT deficiency; nucleotide sugars

• Source: Haskovic , M , Coelho , A I , Lindhout , M , Zijlstra , F , Veizaj , R , Vos , R , Vanoevelen , J M , Bierau , J , Lefeber , D J & Rubio-Gozalbo , M E 2020 , ' Nucleotide sugar profiles throughout

تفاصيل العنوان

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

• Authors : Haskovic, Minela; Derks, Britt; van der Ploeg, Liesbeth

Subjects: Classic galactosemia; Inherited metabolic disorder; Galactose metabolism

• Source: Haskovic , M , Derks , B , van der Ploeg , L , Trommelen , J , Nyakayiru , J , van Loon , L J C , Mackinnon , S , Yue , W W , Peake , R W A , Zha , L , Demirbas , D , Qi , W , Huang , X , Berry , G T

تفاصيل العنوان

17β-Estradiol Modulates SIRT1 and Halts Oxidative Stress-Mediated Cognitive Impairment in a Male Aging Mouse Model

• Authors : Khan, Mehtab; Ullah, Rahat; Rehman, Shafiq Ur

Subjects: d-galactose; 17 beta-Estradiol; SIRT1

• Source: Khan , M , Ullah , R , Rehman , S U , Shah , S A , Saeed , K , Muhammad , T , Park , H Y , Jo , M H , Choe , K , Rutten , B P P & Kim , M O 2019 , ' 17β-Estradiol Modulates SIRT1 and Halts Oxidative

تفاصيل العنوان

The effect of curcumin on cognition in Alzheimer's disease and healthy aging:A systematic review of pre-clinical and clinical studies

• Authors : Voulgaropoulou, S. D.; van Amelsvoort, T. A. M. J.; Prickaerts, J.

Subjects: Alzheimer's disease; Aging; Curcumin (curcuma longa)

• Source: Voulgaropoulou , S D , van Amelsvoort , T A M J , Prickaerts , J & Vingerhoets , C 2019 , ' The effect of curcumin on cognition in Alzheimer's disease and healthy aging : A systematic review of

تفاصيل العنوان