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Author/Creator Hofstede, Floris C.

1. Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome. Issue 11 (3rd September 2021)

Authors:
VanSickle, Elizabeth A.; Michael, Julianne; Bachmann, André S.; Rajasekaran, Surender; Prokop, Jeremy W.; Kuzniecky, Ruben; Hofstede, Floris C.; Steindl, Katharina; Rauch, Anita; Lipson, Mark H.; Bupp, Caleb P.
Other Names:
Rasmussen Sonja A. guestEditor.; Hamosh Ada guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 11(2021)
Page Start:
3485
Record Type:
Journal Article
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2. Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities. Issue 1 (20th November 2013)

Authors:
van der Crabben, Saskia N.; Harakalova, Magdalena; Brilstra, Eva H.; van Berkestijn, Frédérique M.C.; Hofstede, Floris C.; van Vught, Adrianus J.; Cuppen, Edwin; Kloosterman, Wigard; Ploos van Amstel, Hans Kristian; van Haaften, Gijs; van Haelst, Mieke M.
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 1(2014.)
Page Start:
29
Record Type:
Journal Article
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3. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway. Issue 5 (30th June 2022)

Authors:
van Vliet, Kimber; van Ginkel, Willem G.; Jahja, Rianne; Daly, Anne; MacDonald, Anita; Santra, Saikat; De Laet, Corinne; Goyens, Philippe J.; Vara, Roshni; Rahman, Yusof; Cassiman, David; Eyskens, Francois; Timmer, Corrie; Mumford, Nicky; Gissen, Paul; Bierau, Jörgen; van Hasselt, Peter M.; Wilco...
Other Names:
Bhattacharya Kaustuv guestEditor.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 5(2022)
Page Start:
952
Record Type:
Journal Article
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4. Social‐cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU‐COBESO study. Issue 3 (25th February 2016)

Authors:
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, Floris C.; de Vries, Maaike C.; Janssen, Mirian C. H.; van der Ploeg, Ans T.; Langendonk, Janneke G.; H...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 3(2016)
Page Start:
355
Record Type:
Journal Article
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5. Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene. Issue 4 (6th March 2014)

Authors:
Mercimek‐Mahmutoglu, Saadet; Ndika, Joseph; Kanhai, Warsha; de, Thierry Billette; Cheillan, David; Christensen, Ernst; Dorison, Nathalie; Hannig, Vickie; Hendriks, Yvonne; Hofstede, Floris C.; Lion‐Francois, Laurence; Lund, Allan M.; Mundy, Helen; Pitelet, Gaele; Raspall‐Chaure, Miquel; Scott‐Sch...
Journal:
Human mutation
Issue:
Volume 35:Issue 4(2014:Apr.)
Page Start:
462
Record Type:
Journal Article
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6. Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study. (May 2018)

Authors:
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; Lund, Allan Meldga...
Journal:
European journal of paediatric neurology
Issue:
Volume 22:Number 3(2018:May)
Page Start:
369
Record Type:
Journal Article
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