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M

M. Estela Rubio-Gozalbo

CIBERER
H指数:42
被引数:5,410

个人简介

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教育背景

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工作经历

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荣誉奖项

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Agreement between the Amsterdam Neuropsychological Tasks and the Cambridge Neuropsychological Test Automated Battery in the assessment of PKU patients and healthy controls

阿姆斯特丹神经心理学任务与剑桥神经心理学测试自动化电池在苯丙酮尿症患者和健康对照组评估中的协议

MOLECULAR GENETICS AND METABOLISM
IF3.5
2025-06-010
OA
van Steenis, Ellis M.; Huijbregts, Stephan C. J.; Romani, Cristina; Schoemaker, Joell A.; van Vliet, Ninke; Kuypers, Allysa M.; Rubio-Gozalbo, M. Estela; Rennings, Alexander J. M.; de Vries, Maaike; Heiner-Fokkema, M. Rebecca; van Spronsen, Francjan J.
Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
2024-12-280
OAAI
Veldman, Abigail; Sikkema-Raddatz, Birgit; Derks, Terry G. J.; van Karnebeek, Clara D. M.; Kiewiet, M. B. Gea; Mulder, Margaretha F.; Nelen, Marcel R.; Rubio-Gozalbo, M. Estela; Sinke, Richard J.; de van der Velden, Monique G.; Visser, Gepke; de Vries, Maaike C.; Westra, Dineke; Williams, Monique; Wevers, Ron A.; Heiner-Fokkema, M. Rebecca; van Spronsen, Francjan J.
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.
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests
GENETICS IN MEDICINE
IF6.2
2023-01-014
OAAI
Ferreira, Elise A.; Veenvliet, Annemarijne R. J.; Engelke, Udo F. H.; Kluijtmans, Leo A. J.; Huigen, Marleen C. D. G.; Hoegen, Brechtje; de Boer, Lonneke; de Vries, Maaike C.; van Bon, Bregje W.; Leenders, Erika; Cornelissen, Elisabeth A. M.; Haaxma, Charlotte A.; Schieving, Jolanda H.; Rubio-Gozalbo, M. Estela; Korver-Keularts, Irene M. L. W.; Marten, Lara M.; Diegmann, Susann; Mourmans, Jeroen; Rennings, Alexander J. M.; Karnebeek, Clara D. M. van; Rodenburg, Richard J.; Coene, Karlien L. M.
Galactose epimerase deficiency: lessons from the GalNet registry
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2022-09-022
OAAI
Derks, Britt; Demirbas, Didem; Arantes, Rodrigo R.; Banford, Samantha; Burlina, Alberto B.; Cabrera, Analia; Chiesa, Ana; Couce, M. Luz; Dionisi-Vici, Carlo; Gautschi, Matthias; Grunewald, Stephanie; Morava, Eva; Moslinger, Dorothea; Scholl-Burgi, Sabine; Skouma, Anastasia; Stepien, Karolina M.; Timson, David J.; Berry, Gerard T.; Rubio-Gozalbo, M. Estela
High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome

甲基丙二酸和丙酸血症患者的高蛋白处方及其与长期预后的负相关

CLINICAL NUTRITION
IF7.4
2021-05-019
OAAI
Molema, F.; Haijes, H. A.; Janssen, M. C.; Bosch, A. M.; van Spronsen, F. J.; Mulder, M. F.; Verhoeven-Duif, N. M.; Jans, J. J. M.; van der Ploeg, A. T.; Wagenmakers, M. A.; Rubio-Gozalbo, M. E.; Brouwers, M. C. G. J.; de Vries, M. C.; Fuchs, S.; Langendonk, J. G.; Rizopoulos, D.; van Hasselt, P. M.; Williams, M.
Galactokinase deficiency: lessons from the GalNet registry

半乳糖激酶缺乏症: 来自GalNet注册表的教训

GENETICS IN MEDICINE
IF6.2
2021-01-0118
OAAI
Rubio-Gozalbo, M. Estela; Derks, Britt; Das, Anibh Martin; Meyer, Uta; Moeslinger, Dorothea; Couce, M. Luz; Empain, Aurelie; Ficicioglu, Can; Palacios, Natalia Julia; De Los Santos De Pelegrin, Mariela M.; Rivera, Isabel A.; Scholl-Buergi, Sabine; Bosch, Annet M.; Cassiman, David; Demirbas, Didem; Gautschi, Matthias; Knerr, Ina; Labrune, Philippe; Skouma, Anastasia; Verloo, Patrick; Wortmann, Saskia B.; Treacy, Eileen P.; Timson, David J.; Berry, Gerard T.
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers
BRAIN COMMUNICATIONS
IF4.5
2020-01-2925
OAAI
Welsink-Karssies, Mendy M.; Ferdinandusse, Sacha; Geurtsen, Gert J.; Hollak, Carla E. M.; Huidekoper, Hidde H.; Janssen, Mirian C. H.; Langendonk, Janneke G.; van der Lee, Johanna H.; O'Flaherty, Roisin; Oostrom, Kim J.; Roosendaal, Stefan D.; Rubio-Gozalbo, M. Estela; Saldova, Radka; Treacy, Eileen P.; Vaz, Fred M.; de Vries, Maaike C.; Engelen, Marc; Bosch, Annet M.
The natural history of classic galactosemia: lessons from the GalNet registry
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2019-04-2799
OAAI
Rubio-Gozalbo, M. E.; Haskovic, M.; Bosch, A. M.; Burnyte, B.; Coelho, A. I.; Cassiman, D.; Couce, M. L.; Dawson, C.; Demirbas, D.; Derks, T.; Eyskens, F.; Forga, M. T.; Grunewald, S.; Haberle, J.; Hochuli, M.; Hubert, A.; Huidekoper, H. H.; Janeiro, P.; Kotzka, J.; Knerr, I.; Labrune, P.; Landau, Y. E.; Langendonk, J. G.; Moeslinger, D.; Mueller-Wieland, D.; Murphy, E.; Ounap, K.; Ramadza, D.; Rivera, I. A.; Scholl-Buergi, S.; Stepien, K. M.; Thijs, A.; Tran, C.; Vara, R.; Visser, G.; Vos, R.; de Vries, M.; Waisbren, S. E.; Welsink-Karssies, M. M.; Wortmann, S. B.; Gautschi, M.; Treacy, E. P.; Berry, G. T.

研究方向

暂未获取到该数据
A
Annet M. Bosch
H 指数:41论文数:189被引数:6,901
C
Carla E. M. Hollak
H 指数:78论文数:435被引数:1.9万
F
Francjan J. van Spronsen
H 指数:53论文数:253被引数:1.0万
J
Janneke G. Langendonk
H 指数:35论文数:143被引数:4,034
M
Mirian C. H. Janssen
H 指数:41论文数:252被引数:5,774
G
Gerard T. Berry
H 指数:61论文数:374被引数:1.2万
M
Maaike C. de Vries
H 指数:21论文数:61被引数:2,025
E
Eileen P. Treacy
H 指数:36论文数:138被引数:4,093
F
Floris C. Hofstede
H 指数:18论文数:32被引数:1,294
D
Didem Demirbas
H 指数:16论文数:44被引数:1,288