E-LIB Suche - Ergebnisse für: Hofstede, Floris C.

1

Timing of cerebral damage in molybdenum cofactor deficiency..:

Ferreira, Elise A. ; Hofstede, Floris C. ; Haijes-Siepel, Hanneke A....
Genetics in Medicine Open. 2 (2024) - p. 101853 , 2024

Link: https://doi.org/10.1016/..

2

Neurocognitive outcome and mental health in children with t..:

van Vliet, Kimber ; van Ginkel, Willem G. ; Jahja, Rianne...
Journal of Inherited Metabolic Disease. 45 (2022) 5 - p. 952-962 , 2022

Link: https://doi.org/10.1002/..

3

Expanding the phenotype: Four new cases and hope for treatm..:

VanSickle, Elizabeth A. ; Michael, Julianne ; Bachmann, André S....
American Journal of Medical Genetics Part A. 185 (2021) 11 - p. 3485-3493 , 2021

Link: https://doi.org/10.1002/..

4

The impact of metabolic control and tetrahydrobiopterin tre..:

Huijbregts, Stephan C.J. ; Bosch, Annet M. ; Simons, Quirine A....
Molecular Genetics and Metabolism. 125 (2018) 1-2 - p. 96-103 , 2018

Link: https://doi.org/10.1016/..

5

Treatment outcome of twenty-two patients with guanidinoacet..:

Khaikin, Yannay ; Sidky, Sarah ; Abdenur, Jose...
European Journal of Paediatric Neurology. 22 (2018) 3 - p. 369-379 , 2018

Link: https://doi.org/10.1016/..

6

Long-Term Follow-Up of Cognition and Mental Health in Adult..:

Jahja, Rianne ; van Spronsen, Francjan J. ; de Sonneville, Leo M. J....
Behavior Genetics. 47 (2017) 5 - p. 486-497 , 2017

Link: https://doi.org/10.1007/..

7

Cognitive profile and mental health in adult phenylketonuri..:

Jahja, Rianne ; Huijbregts, Stephan C. J. ; de Sonneville, Leo M. J....
Neuropsychology. 31 (2017) 4 - p. 437-447 , 2017

Link: https://doi.org/10.1037/..

8

Social‐cognitive functioning and social skills in patients ..:

Jahja, Rianne ; van Spronsen, Francjan J. ; de Sonneville, Leo M. J....
Journal of Inherited Metabolic Disease. 39 (2016) 3 - p. 355-362 , 2016

Link: https://doi.org/10.1007/..

9

Carglumic acid enhances rapid ammonia detoxification in cla..:

Valayannopoulos, Vassili ; Baruteau, Julien ; Delgado, Maria Bueno...
Orphanet Journal of Rare Diseases. 11 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

10

The neonatal tetrahydrobiopterin loading test in phenylketo..:

Anjema, Karen ; Hofstede, Floris C. ; Bosch, Annet M....
Orphanet Journal of Rare Diseases. 11 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

11

Vitamin B6 in Plasma and Cerebrospinal Fluid of Children:

Albersen, Monique ; Bosma, Marjolein ; Jans, Judith J. M....
PLOS ONE. 10 (2015) 3 - p. e0120972 , 2015

Link: https://doi.org/10.1371/..

12

Is BRIEF a useful instrument in day to day care of patients..:

Liemburg, Geertje B. ; Jahja, Rianne ; van Spronsen, Francjan J....
Molecular Genetics and Metabolism. 114 (2015) 3 - p. 425-430 , 2015

Link: https://doi.org/10.1016/..

13

Expanding the spectrum of phenotypes associated with germli..:

van der Crabben, Saskia N. ; Harakalova, Magdalena ; Brilstra, Eva H....
American Journal of Medical Genetics Part A. 164 (2013) 1 - p. 29-35 , 2013

Link: https://doi.org/10.1002/..

14

Evaluation of quality of life in PKU before and after intro..:

Demirdas, Serwet ; Maurice-Stam, Heleen ; Boelen, Carolien C.A....
Molecular Genetics and Metabolism. 110 (2013) - p. S49-S56 , 2013

Link: https://doi.org/10.1016/..

15

Mental health and social functioning in early treated Pheny..:

Jahja, Rianne ; Huijbregts, Stephan C.J. ; de Sonneville, Leo M.J....
Molecular Genetics and Metabolism. 110 (2013) - p. S57-S61 , 2013

Link: https://doi.org/10.1016/..