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drs. F.C. Hofstede Assistant Professor - medical

  • Integral pediatrics patient care

F.C. Hofstede

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Research Programs

Research Output (22)

Expanding the Spectrum of BAF-Related Disorders:De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Machol Keren, Rousseau Justine, Ehresmann Sophie, Garcia Thomas, Nguyen Thi Tuyet Mai, Spillmann Rebecca C., Sullivan Jennifer A., Shashi Vandana, Jiang Yong hui, Stong Nicholas, Fiala Elise, Willing Marcia, Pfundt Rolph, Kleefstra Tjitske, Cho Megan T., McLaughlin Heather, Rosello Piera Monica, Orellana Carmen, Martínez Francisco, Caro-Llopis Alfonso, Monfort Sandra, Roscioli Tony, Nixon Cheng Yee, Buckley Michael F., Turner Anne, Jones Wendy D., van Hasselt Peter M., Hofstede Floris C., van Gassen Koen L.I., Brooks Alice S., van Slegtenhorst Marjon A., Lachlan Katherine, Sebastian Jessica, Madan-Khetarpal Suneeta, Sonal Desai, Sakkubai Naidu, Thevenon Julien, Faivre Laurence, Maurel Alice, Petrovski Slavé, Krantz Ian D., Tarpinian Jennifer M., Rosenfeld Jill A., Lee Brendan H., Adams David R., Alejandro Mercedes E., Allard Patrick, Azamian Mahshid S., Bacino Carlos A., Balasubramanyam Ashok, 3 jan 2019, In: American Journal of Human Genetics. 104 , p. 164-178 15 p.

The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

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. sep 2018, In: Molecular Genetics and Metabolism. 125 , p. 96-103

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study

Khaikin Yannay, Sidky Sarah, Abdenur Jose, Anastasi Arnaud, Ballhausen Diana, Buoni Sabrina, Chan Alicia, Cheillan David, Dorison Nathalie, Goldenberg Alice, Goldstein Jennifer, Hofstede Floris C., Jacquemont Marie-Line, Koeberl Dwight D., Lion-Francois Laurence, Meldgaard Lund Allan, Mention Karine, Mundy Helen, O'Rourke Declan, Pitelet Gaele, Raspall-Chaure Miquel, Tassini Maria, Billette de Villemeur Thierry, Williams Monique, Salomons Gajja S., Mercimek-Andrews Saadet mei 2018, In: European Journal of Paediatric Neurology. 22 , p. 369-379

Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria:A PKU-COBESO Study

Jahja Rianne, van Spronsen Francjan J., De Sonneville Leo M J, van der Meere Jaap J., Bosch Annet M., Hollak Carla E. M., Rubio-Gozalbo M. Estela, Brouwers Martijn C. G. J., Hofstede FC, de Vries Maaike C., Janssen Mirian C. H., van der Ploeg Ans T., Langendonk Janneke G., Huijbregts Stephan C. J. sep 2017, In: Behavior Genetics. 47 , p. 486-497 12 p.

Cognitive profile and mental health in adult phenylketonuria:A PKU-COBESO study

Jahja Rianne, Huijbregts Stephan C. J., De Sonneville Leo M J, van der Meere Jaap J., Legemaat Amanda M, Bosch Annet M., Hollak Carla E. M., Rubio-Gozalbo M. Estela, Brouwers Martijn C. G. J., Hofstede FC, de Vries Maaike C., Janssen Mirian C. H., van der Ploeg Ans T., Langendonk Janneke G., van Spronsen Francjan J. 2017, In: Neuropsychology. 31 , p. 437-447 11 p.

The neonatal tetrahydrobiopterin loading test in phenylketonuria:what is the predictive value?

Anjema Karen, Hofstede FC, Bosch Annet M, Rubio-Gozalbo M Estela, de Vries Maaike C, Boelen Carolien C A, van Rijn Margreet, van Spronsen Francjan J 29 jan 2016, In: Orphanet Journal of Rare Diseases. 11

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile:a retrospective observational study

Valayannopoulos Vassili, Baruteau Julien, Delgado Maria Bueno, Cano Aline, Couce Maria L, Del Toro Mireia, Donati Maria Alice, Garcia-Cazorla Angeles, Gil-Ortega David, Gomez-de Quero Pedro, Guffon Nathalie, Hofstede Floris C , Kalkan-Ucar Sema, Coker Mahmut, Lama-More Rosa, Martinez-Pardo Casanova Mercedes, Molina Agustin, Pichard Samia, Papadia Francesco, Rosello Patricia, Plisson Celine, Le Mouhaer Jeannie, Chakrapani Anupam 2016, In: Orphanet Journal of Rare Diseases. 11

Social-cognitive functioning and social skills in patients with early treated phenylketonuria:a PKU-COBESO study

Jahja Rianne, van Spronsen Francjan J, de Sonneville Leo M J, van der Meere Jaap J, Bosch Annet M, Hollak Carla E M, Rubio-Gozalbo M Estela, Brouwers Martijn C G J, Hofstede FC, de Vries Maaike C, Janssen Mirian C H, van der Ploeg Ans T, Langendonk Janneke G, Huijbregts Stephan C J 2016, In: Journal of Inherited Metabolic Disease. 39 , p. 355-362 8 p.

Mudd's disease (MAT I/III deficiency):a survey of data for MAT1A homozygotes and compound heterozygotes

Chien Yin-Hsiu, Abdenur Jose E., Baronio Federico, Bannick Allison Anne, Corrales Fernando, Couce Maria, Donner Markus G., Ficicioglu Can, Freehauf Cynthia, Frithiof Deborah, Gotway Garrett, Hirabayashi Koichi, Hofstede FC, Hoganson George, Hwu Wuh-Liang, James Philip, Kim Sook, Korman Stanley H., Lachmann Robin, Levy Harvey, Lindner Martin, Lykopoulou Lilia, Mayatepek Ertan, Muntau Ania, Okano Yoshiyuki, Raymond Kimiyo, Rubio-Gozalbo Estela, Scholl-Buergi Sabine, Schulze Andreas, Singh Rani, Stabler Sally, Stuy Mary, Thomas Janet, Wagner Conrad, Wilson William G., Wortmann Saskia, Yamamoto Shigenori, Pao Maryland, Blom Henk J., Hofstede FC 20 aug 2015, In: Orphanet Journal of Rare Diseases. 10 21 p.

Vitamin B6 in plasma and cerebrospinal fluid of children

Albersen Monique, Bosma M., Jans Judith J M, Hofstede FC, van Hasselt PM, De Sain-van Der Velden Monique G M, Visser Gepke, Verhoeven-Duif NM 11 mrt 2015, In: PLoS ONE [E]. 10

All Research Output (22)
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