학술논문
'학술논문'
에서 검색결과 38건 | 목록
1~10
Academic Journal
Kishnani, Priya; Stockton, David; Hahn, Andreas; Llerena, Juan; Broomfield, Alexander; Batista, Julie; Foster, Meredith; Wilson, Kathryn; Sparks, Susan; van den Hout, Hannerieke; Chien, Yin-Hsiu
In Genetics in Medicine Open 2024 2 Supplement 1
Academic Journal
Schoenmakers, Daphne H.; van den Berg, Sibren; Timmers, Lonneke; Adang, Laura A.; Baumer, Tobias; Bosch, Annet; van de Casteele, Marc; Datema, Mareen R.; Dekker, Hanka; Donnelly, Conan; Driessens, Mariette H. E.; Graessner, Holm; Greger, Valerie; Haddad, Tala; Hoglinger, Gunter U.; van den Hout, Hannerieke; Jonker, Carla; Langeveld, Mirjam; Lambert, Laurie J.; Neacy, Eileen; Nieuwland, Marc; Klockgether, Thomas; van der Knaap, Marjo S.; Papadopoulou, Andri; Plueschke, Kelly; van Rijn, Sanne; Rosenberg, Noa; Saunier-Vivar, Elise F.; Vieira, Bruna dos Santos; Hollak, Carla E. M.; Goettsch, Wim G.; Wolf, Nicole I.
Academic Journal
Vollebregt, Audrey A. M.; Hoogeveen-Westerveld, Marianne; Ruijter, George J.; van den Hout, Hannerieke; Oussoren, Esmee; van der Ploeg, Ans T.; Pijnappel, W. W. M. Pim
Academic Journal
Van den Hout, Hannerieke; Reuser, Arnold JJ; Vulto, Arnold G; Christa B Loonen, M; Cromme-Dijkhuis, Adri; Van der Ploeg, Ans T
In The Lancet 2000 356(9227):397-398
Electronic Resource
in 't Groen, Stijn; Oliveira Soares de Faria, Douglas; Iuliano, Alessandro; van den Hout, Hannerieke; Douben, Hannie; Dijkhuizen, T; Cassiman, D; Witters, P; Barba Romero, MÁ; de Klein, Annelies; Somers - Bolman, Galhana; Saris, Jasper; Hoefsloot, EH; van der Ploeg, Ans; Bergsma, Atze; Pijnappel, Pim
in 't Groen , S , Oliveira Soares de Faria , D , Iuliano , A , van den Hout , H , Douben , H , Dijkhuizen , T , Cassiman , D , Witters , P , Barba Romero , MÁ , de Klein , A , Somers - Bolman , G , Saris , J , Hoefsloot , EH , van der Ploeg , A , Bergsma , A & Pijnappel , P 2020 , ' Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis ' , Molecular Therapy - Methods and Clinical Development , vol. 17 , pp. 337-348 .
Electronic Resource
van den Dorpel, Jeroen; Poelman, E; Harlaar, Laurike; van Kooten, Harmke; van der Giessen, Lianne; van Doorn, Pieter; van der Ploeg, Ans; van den Hout, Hannerieke; van der Beek, N.A.M.E.
van den Dorpel , J , Poelman , E , Harlaar , L , van Kooten , H , van der Giessen , L , van Doorn , P , van der Ploeg , A , van den Hout , H & van der Beek , N A M E 2020 , ' Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients ' , Orphanet Journal of Rare Diseases , vol. 15 , no. 1 , 247 .
Electronic Resource
Poelman, Esther; van den Dorpel, Jeroen; Hoogeveen - Westerveld, Marianne; van den Hout, Hannerieke; van der Giessen, Lianne; van der Beek, N.A.M.E.; Pijnappel, Pim; van der Ploeg, Ans
Poelman , E , van den Dorpel , J , Hoogeveen - Westerveld , M , van den Hout , H , van der Giessen , L , van der Beek , N A M E , Pijnappel , P & van der Ploeg , A 2020 , ' Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long-term clinical outcome of classic infantile Pompe patients ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 6 , pp. 1243-1253 .
Electronic Resource
Broeders - Gleitz, Mike; Smits, K; Goynuk, B; Oussoren, Esmeralda; van den Hout, Hannerieke; Bergsma, Atze; van der Ploeg, Ans; Pijnappel, Pim
Broeders - Gleitz , M , Smits , K , Goynuk , B , Oussoren , E , van den Hout , H , Bergsma , A , van der Ploeg , A & Pijnappel , P 2020 , ' A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI ' , Molecular Therapy - Methods and Clinical Development , vol. 19 , pp. 174-185 .
Electronic Resource
Poelman, Esther; Hoogeveen - Westerveld, Marianne; van den Hout, Hannerieke; Bredius, RGM; Lankester, AC; Driessen, Gertjan; Kamphuis, Sylvia; Pijnappel, Pim; van der Ploeg, Ans
Poelman , E , Hoogeveen - Westerveld , M , van den Hout , H , Bredius , RGM , Lankester , AC , Driessen , G , Kamphuis , S , Pijnappel , P & van der Ploeg , A 2019 , ' Effects of immunomodulation in classic infantile Pompe patients with high antibody titers ' , Orphanet Journal of Rare Diseases , vol. 14 , 71 .
Electronic Resource
Borgwardt, L; Guffon, N; Amraoui, Y; Dali, CI; de Meirleir, L; Gil-Campos, M; Heron, B; Geraci, S; Ardigò, D; Cattaneo, F; Fogh, J; van den Hout, Hannerieke; Beck, M; Jones, SA; Tylki-Szymanska, A; Haugsted, U; Lund, AM
Borgwardt , L , Guffon , N , Amraoui , Y , Dali , CI , de Meirleir , L , Gil-Campos , M , Heron , B , Geraci , S , Ardigò , D , Cattaneo , F , Fogh , J , van den Hout , H , Beck , M , Jones , SA , Tylki-Szymanska , A , Haugsted , U & Lund , AM 2018 , ' Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial ' , Journal of Inherited Metabolic Disease , vol. 41 , no. 6 , pp. 1215-1223 .
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[AR] van den Hout, Hannerieke
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