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S

Stephan C. J. Huijbregts

Leiden University
H指数:41
被引数:5,317

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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.
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach
MOLECULAR GENETICS AND METABOLISM
IF3.5
2022-09-0111
OAAI
Burton, Barbara K.; Hermida, Alvaro; Belanger-Quintana, Amaya; Bell, Heather; Bjoraker, Kendra J.; Christ, Shawn E.; Grant, Mitzie L.; Harding, Cary O.; Huijbregts, Stephan C. J.; Longo, Nicola; McNutt, Markey C. I. I. I. I.; Nguyen-Driver, Mina D.; Pessoa, Andre L. Santos; Rocha, Julio Cesar; Sacharow, Stephanie; Sanchez-Valle, Amarilis; Sivri, H. Serap; Vockley, Jerry; Walterfang, Mark; Whittle, Sarah; Muntau, Ania C.
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2019-12-0419
OAAI
van Vliet, Kimber; van Ginkel, Willem G.; Jahja, Rianne; Daly, Anne; MacDonald, Anita; De Laet, Corinne; Vara, Roshni; Rahman, Yusof; Cassiman, David; Eyskens, Francois; Timmer, Corrie; Mumford, Nicky; Bierau, Jorgen; van Hasselt, Peter M.; Gissen, Paul; Goyens, Philippe J.; McKiernan, Patrick J.; Wilcox, Gisela; Morris, Andrew A. M.; Jameson, Elisabeth A.; Huijbregts, Stephan C. J.; van Spronsen, Francjan J.
The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study
MOLECULAR GENETICS AND METABOLISM
IF3.5
2018-09-0121
PREAI
Huijbregts, Stephan C. J.; Bosch, Annet M.; Simons, Quirine A.; Jahja, Rianne; Brouwers, Martijn C. G. J.; De Sonneville, Leo M. J.; De Vries, Maaike C.; Hofstede, Floris C.; Hollak, Carla E. M.; Janssen, Mirian C. H.; Langendonk, Janneke G.; Rubio-Gozalbo, M. Estela; Van der Meere, Jaap J.; Van der Ploeg, Ans T.; Van Spronsen, Francjan J.
Key European guidelines for the diagnosis and management of patients with phenylketonuria
LANCET DIABETES & ENDOCRINOLOGY
IF41.8
2017-09-01282
OAAI
van Spronsen, Francjan J.; van Wegberg, Annemiek M. J.; Ahring, Kirsten; Belanger-Quintana, Amaya; Blau, Nenad; Bosch, Annet M.; Burlina, Alberto; Campistol, Jaime; Feillet, Francois; Gizewska, Maria; Huijbregts, Stephan C.; Kearney, Shauna; Leuzzi, Vincenzo; Maillot, Francois; Muntau, Ania C.; Trefz, Fritz K.; van Rijn, Margreet; Walter, John H.; MacDonald, Anita

研究方向

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F
Francjan J. van Spronsen
H 指数:53论文数:253被引数:1.0万
A
Anita MacDonald
H 指数:47论文数:352被引数:1.4万
A
Annet M. Bosch
H 指数:41论文数:189被引数:6,913
A
Annemiek M. J. van Wegberg
H 指数:18论文数:43被引数:2,210
R
Rianne Jahja
H 指数:14论文数:40被引数:701
C
Cristina Romani
H 指数:39论文数:134被引数:6,553
A
Ania C. Muntau
H 指数:46论文数:196被引数:7,358
H
Hanna Swaab
H 指数:54论文数:249被引数:8,401
M
Maria Giżewska
H 指数:24论文数:103被引数:3,473
K
Kirsten Ahring
H 指数:25论文数:65被引数:2,764