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You search for a phrase ""Hofstede, F. C."" according to the criterion: Author


Showing 1-11 from 11 results
Title :
The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration
Authors :
Anjema, K.
Venema, G.
Hofstede, F. C.
Weber, E. C. Carbasius
Bosch, A. M.
Ter Horst, N. M.
Hollak, C. E. M.
Jonkers, C. F.
Rubio-Gozalbo, M. E.
van der Ploeg, E. M. C.
de Vries, M. C.
Janssen-Regelink, R. G.
Janssen, M. C. H.
Essen, H. Zweers-van
Boelen, C. C. A.
van der Herberg-van de Wetering, N. A. P.
Heiner-Fokkema, Rebecca
van Rijn, M.
van Spronsen, F. J.
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Subject Terms :
Tetrahydrobiopterin
MOLECULAR-GENETICS
Phenylalanine
RESPONSIVE PHENYLKETONURIA
HYDROXYLASE DEFICIENCY
PKU
Phenylketonuria
UMCG Approved
Sapropterin
BH4
Source :
Molecular Genetics and Metabolism, 104 Suppl, S60 - 3
Molecular Genetics and Metabolism, 104, S60 - S63. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular genetics and metabolism, 104(Suppl), S60 - S63. Academic Press Inc.
Molecular Genetics and Metabolism, 104, S60 - S63. Academic Press Inc.
Title :
Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study
Authors :
Jahja, R.
Van Spronsen, F. J.
Van der Meere, J. J.
Bosch, A. M.
Hollak, C. E. M.
Rubio-Gozalbo, M. E.
Hofstede, F. C.
Janssen, M. C. H.
Langendonk, J. G.
Huijbregts, S. C. J.
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Subject Terms :
adults
executive functioning
executive longitudinal
motor control
mental health
phenylketonuria
Source :
Journal of Intellectual Disability Research, 61(9), 830 - 830. Wiley-Blackwell
Title :
The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration.
Authors :
Anjema K; Beatrix Children's Hospital, University Medical Centre Groningen, The Netherlands. />Venema G
Hofstede FC
Carbasius Weber EC
Bosch AM
Ter Horst NM
Hollak CE
Jonkers CF
Rubio-Gozalbo ME
van der Ploeg EM
de Vries MC
Janssen-Regelink RG
Janssen MC
Zweers-van Essen H
Boelen CC
van der Herberg-van de Wetering NA
Heiner-Fokkema MR
van Rijn M
van Spronsen FJ
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Source :
Molecular genetics and metabolism [Mol Genet Metab] 2011; Vol. 104 Suppl, pp. S60-3. Date of Electronic Publication: 2011 Sep 23.
Publication Type :
Evaluation Study; Journal Article
MeSH Terms :
Diagnostic Techniques and Procedures*
Biopterin/*analogs & derivatives
Phenylalanine/*blood
Phenylketonurias/*blood
Phenylketonurias/*drug therapy
Adolescent ; Adult ; Biopterin/therapeutic use ; Child ; Child, Preschool ; Demography ; Female ; Humans ; Infant ; Male ; Middle Aged ; Time Factors
Academic Journal
Title :
Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11.
Authors :
Wuyts W; Department of Medical Genetics, University of Antwerp, Belgium.
Ramlakhan S
Van Hul W
Hecht JT
van den Ouweland AM
Raskind WH
Hofstede FC
Reyniers E
Wells DE
de Vries B
et. al.
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Source :
American journal of human genetics [Am J Hum Genet] 1995 Aug; Vol. 57 (2), pp. 382-7.
Publication Type :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
Chromosomes, Human, Pair 11*
Genetic Linkage*
Exostoses, Multiple Hereditary/*genetics
Humans ; Lod Score ; Pedigree
Academic Journal
    Showing 1-11 from 11 results

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