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M

Marion M. Brands

amsterdam gastroenterology endocrinology metabolism
H指数:15
被引数:814

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Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases

筛查工具提高了内科医生和儿科医生对遗传代谢病患者运动障碍的识别能力

Journal of Inherited Metabolic Disease
IF3.8
2025-11-090
OAAI
Ellen M. Hulshof; Hugo P. Lantinga; Gonnie Alkemade; Annet M. Bosch; Marion M. Brands; Danique Draaisma-van Vliet; Andrea B. Haijer-Schreuder; Eva M. M. Hoytema van Konijnenburg; Mirian C. H. Janssen; Melanie M. van der Klauw; Mirjam Langeveld; Charlotte M. A. Lubout; Sonja L. van Ockenburg; Esmeralda Oussoren; Bianca Panis; Barbara Sjouke; Maaike de Vries; Margreet A. E. M. Wagenmakers; Mark Wijnen; Deborah A. Sival; Marina A. J. Tijssen; Tom J. de Koning; Lisette H. Koens
Potential benefits of l-serine in children with GRIN2B loss-of-function variants: Randomized n-of-1 trials

L-丝氨酸在具有GRIN2B功能丧失性变异的儿童中的潜在益处：随机n-of-1试验

Molecular Genetics and Metabolism
IF3.5
2025-10-300
PRE
Bibiche den Hollander; Marieke Rothuizen-Lindenschot; Hoang Lan Le; Jennifer R. Ramautar; Annelieke R. Müller; Lisa Geertjens; Frédéric M. Vaz; Agnies M. van Eeghen; Martina C. Cornel; Bart A.W. Jacobs; Hilgo Bruining; Peter M. van de Ven; Marion M. Brands; Clara D. van Karnebeek
A mini-review on the international gyrate atrophy symposium 2023: More than meets the eye. Focus on outstanding research questions

2023国际回旋萎缩研讨会的迷你回顾: 不止是满足眼睛。专注于突出的研究问题

MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-12-010
PRE
Brands, Marion; Balfoort, Berith; Acharya, Karabi; Bergen, Arthur; Brunetti-Pierri, Nicola; Buijs, Mark; Cellini, Barbara; Schultink, Patrick; Singh, Mandeep; Schulze, Andreas; Timmer, Corrie; Valle, David; Wanders, Ronald; Wartiovaara, Kirmo; van Karnebeek, Clara
Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique survey

不同的疾病，不同的需求: 患者对溶酶体贮积症基因治疗的偏好，概率阈值技术调查

ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2024-10-032
OAAI
Corazolla, Eleonore M.; Eskes, Eline C. B.; Veldwijk, Jorien; Brands, Marion M. M. G.; Dekker, Hanka; van de Mheen, Erica; Langeveld, Mirjam; Hollak, Carla E. M.; Sjouke, Barbara
Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay

扩展回旋萎缩的诊断实践: 酶学特性和体外吡哆醇反应性测定的开发

MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-09-012
OAAI
Balfoort, Berith M.; Pampalone, Gioena; Ruiter, Jos P. N.; Denis, Simone W.; Brands, Marion M.; Consortium, G. A. C. R. Bird's Eye View; Timmer, Corrie; Wagenmakers, Margreet A. E. M.; Wanders, Ronald J. A.; Karnebeek, Clara D. van; Cellini, Barbara; Houtkooper, Riekelt H.; Ferdinandusse, Sacha
Trial of N-Acetyl-L-Leucine in Niemann-Pick Disease Type C
NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2024-02-018
PRE
Bremova-Ertl, Tatiana; Ramaswami, Uma; Brands, Marion; Foltan, Tomas; Gautschi, Matthias; Gissen, Paul; Gowing, Francesca; Hahn, Andreas; Jones, Simon; Kay, Richard; Kolnikova, Miriam; Arash-Kaps, Laila; Marquardt, Thorsten; Mengel, Eugen; Park, Julien H.; Reichmannova, Stella; Schneider, Susanne A.; Sivananthan, Siyamini; Walterfang, Mark; Wibawa, Pierre; Strupp, Michael; Martakis, Kyriakos
Results of a phase III, randomized, placebo-controlled crossover trial with N-acetyl-L-leucine for Niemann-Pick disease type C
MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-02-010
PRE
Fields, Taylor; Bremova-Ertl, Tatiana; Ramaswami, Uma; Brands, Marion; Gautschi, Matthias; Gissen, Paul; Hahn, Andreas; Jones, Simon; Kolnikova, Miriam; Arash-Karps, Laila; Mengel, Eugen; Park, Julien; Reichmannova, Stella; Schneider, Susanne; Sivananthan, Siyamini; Walterfang, Mark; Wibawa, Pierre; Strupp, Michael; Martakis, Kyriakos
Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials
BMC PSYCHIATRY
IF3.6
2024-01-044
OAAI
Mueller, A. R.; den Hollander, B.; van de Ven, P. M.; Roes, K. C. B.; Geertjens, L.; Bruining, H.; van Karnebeek, C. D. M.; Jansen, F. E.; de Wit, M. C. Y.; ten Hoopen, L. W.; Rietman, A. B.; Dierckx, B.; Wijburg, F. A.; Boot, E.; Brands, M. M. G.; van Eeghen, A. M.
Vision on gyrate atrophy: why treat the eye?
EMBO MOLECULAR MEDICINE
IF8.3
2023-12-144
OAAI
Bergen, Arthur A.; Buijs, Mark J. N.; ten Asbroek, Anneloor L. M. A.; Balfoort, Berith M.; Boon, Camiel J. F.; Diederen, Roselie R. M. H.; Ferdinandusse, Sacha; Ferreira, Elise A.; Schultink, Patrick; Timmer, Corrie; Vaz, Frederic M.; Verhaagen, Joost; Wagenmakers, Margreet A. E. M.; Waterham, Hans R.; Wijburg, Frits; Brands, Marion M.; Wanders, Ronald J. A.; van Karnebeek, Clara D. M.; Houtkooper, Riekelt H.
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

Delphi调查研究，以制定有关遗传性代谢紊乱可治疗性的声明，以决定新生儿筛查的资格

INTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
2023-10-114
OAAI
Veldman, Abigail; Kiewiet, M. B. Gea; Westra, Dineke; Bosch, Annet M.; Brands, Marion M. G.; de Coo, Rene I. F. M.; Derks, Terry G. J.; Fuchs, Sabine A.; van den Hout, Johanna. M. P.; Huidekoper, Hidde H.; Kluijtmans, Leo A. J.; Koop, Klaas; Lubout, Charlotte M. A.; Mulder, Margaretha F.; Panis, Bianca; Rubio-Gozalbo, M. Estela; de van der Velden, Monique G.; Schaefers, Jaqueline; Schreuder, Andrea B.; Visser, Gepke; Wevers, Ron A.; Wijburg, Frits A.; Heiner-Fokkema, M. Rebecca; van Spronsen, Francjan J.

研究方向

暂未获取到该数据
C
Carla E. M. Hollak
H 指数:78论文数:435被引数:1.9万
M
Mirjam Langeveld
H 指数:29论文数:125被引数:2,404
B
Bibiche den Hollander
H 指数:9论文数:24被引数:183
F
Frits A. Wijburg
H 指数:73论文数:413被引数:1.8万
B
Berith M. Balfoort
H 指数:4论文数:10被引数:63
A
Arthur A. Bergen
H 指数:64论文数:325被引数:1.5万
B
Barbara Sjouke
H 指数:23论文数:57被引数:2,394
C
Corrie Timmer
H 指数:10论文数:25被引数:262
A
Agnies M. van Eeghen
H 指数:24论文数:104被引数:2,325
M
Matthias Gautschi
H 指数:28论文数:99被引数:4,178