RSS for Annet Maria Boschhttp://academic.research.microsoft.com/Rss.aspx?id=24019026Search RSS feed for Microsoft Academic SearchMSRA Libra RSS Burner(c)2008 Microsoft Corpration, All right reserved.Mon, 20 May 2013 13:03:36 GMTMon, 20 May 2013 13:03:36 GMTAnnet Maria Bosch (Personal Info) http://academic.research.microsoft.com/Author/24019026Mon, 20 May 2013 13:03:36 GMTUniversity of Amsterdam

Publications: 28

Citation Count: 213

G-index: 13

Field Rating: 10

Fields of study: Genetics & Genealogy, Molecular Biology, Diseases

Homepage: http://www.amc.uva.nl/?pid=9788&rm=allpub&auteurid=15989&medewerkerid=1945

Permanent Link: http://academic.research.microsoft.com/Author/24019026

]]>240192671013http://www.amc.uva.nl/?pid=9788&rm=allpub&auteurid=15989&medewerkerid=1945University of AmsterdamHigh phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trialhttp://academic.research.microsoft.com/Publication/47698748Mon, 20 May 2013 13:03:36 GMT2401902647698748Amber E. ten Hoedt, Leo M. J. de Sonneville, Baudouin Francois, Nienke M. ter Horst, Mirian C. H. Janssen, M. Estela Rubio-Gozalbo, Frits A. Wijburg, Carla E. M. Hollak, Annet M. Bosch

J INHERIT METAB DIS, vol. 34, no. 1, pp. 165-171, 2011

(Citations:4)

]]>Classic galactosemia: dietary dilemmashttp://academic.research.microsoft.com/Publication/36763375Mon, 20 May 2013 13:03:35 GMT2401902636763375Annet M. Bosch

J INHERIT METAB DIS, vol. 34, no. 2, pp. 257-260, 2011

(Citations:2)

]]>"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trialhttp://academic.research.microsoft.com/Publication/48670368Mon, 20 May 2013 13:03:34 GMT2401902648670368Amber E ten Hoedt, Carla EM Hollak, Carolien CA Boelen, N Ada P van der Herberg-van de Wetering, Nienke M ter Horst, Cora F Jonkers, Frits A Wijburg, Annet M Bosch

ORPHANET J RARE DIS, vol. 6, no. 1, pp. 1-7, 2011

]]>Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatmenthttp://academic.research.microsoft.com/Publication/48046719Mon, 20 May 2013 13:03:33 GMT2401902648046719Annet M. Bosch, Nico G. G. M. Abeling, Lodewijk IJlst, Hennie Knoester, W. Ludo van der Pol, Alida E. M. Stroomer, Ronald J. Wanders, Gepke Visser, Frits A. Wijburg, Marinus Duran, Hans R. Waterham

J INHERIT METAB DIS, vol. 34, no. 1, pp. 159-164, 2011

]]>Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of lifehttp://academic.research.microsoft.com/Publication/47912630Mon, 20 May 2013 13:03:32 GMT2401902647912630Amber E. ten Hoedt, Heleen Maurice-Stam, Carolien C. A. Boelen, M. Estela Rubio-Gozalbo, Francjan J. van Spronsen, Frits A. Wijburg, Annet M. Bosch, Martha A. Grootenhuis

J INHERIT METAB DIS, vol. 34, no. 2, pp. 391-398, 2011

]]>Psychosocial developmental milestones in men with classic galactosemiahttp://academic.research.microsoft.com/Publication/47965872Mon, 20 May 2013 13:03:31 GMT2401902647965872Cynthia Sophia Gubbels, Heleen Maurice-Stam, Gerard Thomas Berry, Annet Maria Bosch, Susan Waisbren, Maria Estela Rubio-Gozalbo, Martha Alexandra Grootenhuis

J INHERIT METAB DIS, vol. 34, no. 2, pp. 415-419, 2011

]]>Psychosocial aspects of PKU: Hidden disabilities – A reviewhttp://academic.research.microsoft.com/Publication/36384333Mon, 20 May 2013 13:03:30 GMT2401902636384333J. K. Gentile, A. E. Ten Hoedt, A. M. Bosch

MOL GENET METAB, vol. 99, pp. S64-S67, 2010

(Citations:12)

]]>Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKUhttp://academic.research.microsoft.com/Publication/12841593Mon, 20 May 2013 13:03:29 GMT2401902612841593Francjan J. van Spronsen, Margreet van Rijn, Bart Dorgelo, Marieke Hoeksma, A. M. Bosch, M. F. Mulder, J. B. C. de Klerk, T. de Koning, M. Estela Rubio-Gozalbo, M. de Vries, P. H. Verkerk

J INHERIT METAB DIS, vol. 32, no. 1, pp. 27-31, 2009

(Citations:4)

]]>Remarkable differences: the course of life of young adults with galactosaemia and PKUhttp://academic.research.microsoft.com/Publication/36763225Mon, 20 May 2013 13:03:28 GMT2401902636763225A. M. Bosch, H. Maurice-Stam, F. A. Wijburg, M. A. Grootenhuis

J INHERIT METAB DIS, vol. 32, no. 6, pp. 706-712, 2009

(Citations:5)

]]>Predicting health-related quality of life of parents of children with inherited metabolic diseaseshttp://academic.research.microsoft.com/Publication/33933734Mon, 20 May 2013 13:03:27 GMT2401902633933734Janneke Hatzmann, Marlies J Valstar, Annet M Bosch, Frits A Wijburg, Hugo SA Heymans, Martha A Grootenhuis

ACTA PAEDIAT, vol. 98, no. 7, pp. 1205-1210, 2009

(Citations:3)

]]>Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia – and review of the literaturehttp://academic.research.microsoft.com/Publication/32656493Mon, 20 May 2013 13:03:26 GMT2401902632656493Peter Schadewaldt, Hans-Werner Hammen, Loganathan Kamalanathan, Udo Wendel, Martin Schwarz, Annet M. Bosch, Nele Guion, Mirian Janssen, Godfried H. J. Boers

EUR J PEDIAT, vol. 168, no. 6, pp. 721-729, 2009

(Citations:3)

]]>The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuriahttp://academic.research.microsoft.com/Publication/36762786Mon, 20 May 2013 13:03:25 GMT2401902636762786A. M. Bosch, W. Tybout, F. J. van Spronsen, H. W. de Valk, F. A. Wijburg, M. A. Grootenhuis

J INHERIT METAB DIS, vol. 30, no. 1, pp. 29-34, 2007

(Citations:12)

]]>High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programmehttp://academic.research.microsoft.com/Publication/36762936Mon, 20 May 2013 13:03:24 GMT2401902636762936A. E. ten Hoedt, A. A. van Kempen, A. Boelen, M. Duran, E. A. Kemper-Proper, M. J. W. Oey-Spauwen, F. A. Wijburg, A. M. Bosch

J INHERIT METAB DIS, vol. 30, no. 6, pp. 978-978, 2007

(Citations:4)

]]>Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiencyhttp://academic.research.microsoft.com/Publication/36383460Mon, 20 May 2013 13:03:23 GMT2401902636383460André B. P. van Kuilenburg, Judith Meijer, Doreen Dobritzsch, Rutger Meinsma, Marinus Duran, Bernhard Lohkamp, Lida Zoetekouw, Nico G. G. M. Abeling, Herman L. G. van Tinteren, Annet M. Bosch

MOL GENET METAB, vol. 91, no. 2, pp. 157-164, 2007

(Citations:4)

]]>Classical galactosaemia revisitedhttp://academic.research.microsoft.com/Publication/36762712Mon, 20 May 2013 13:03:22 GMT2401902636762712Annet M. Bosch

J INHERIT METAB DIS, vol. 29, no. 4, pp. 516-525, 2006

(Citations:51)

]]>The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuriahttp://academic.research.microsoft.com/Publication/36762619Mon, 20 May 2013 13:03:21 GMT2401902636762619M. Hoeksma, M. Van Rijn, P. H. Verkerk, A. M. Bosch, M. F. Mulder, J. B. C. de Klerk, T. J. De Koning, E. Rubio-Gozalbo, M. De Vries, P. J. J. Sauer, F. J. van Spronsen

J INHERIT METAB DIS, vol. 28, no. 6, pp. 845-854, 2005

(Citations:14)

]]>Identification of novel mutations in classical galactosemiahttp://academic.research.microsoft.com/Publication/34039339Mon, 20 May 2013 13:03:20 GMT2401902634039339Annet M. Bosch, Lodewijk IJlst, Wendy Oostheim, Joyce Mulders, Henk D. Bakker, Frits A. Wijburg, Ronald J. A. Wanders, Hans R. Waterham

HUM MUTAT, vol. 25, no. 5, pp. 502-502, 2005

(Citations:12)

]]>Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemiahttp://academic.research.microsoft.com/Publication/36383069Mon, 20 May 2013 13:03:19 GMT2401902636383069Hidde H. Huidekoper, Annet M. Bosch, Saskia N. van der Crabben, Hans P. Sauerwein, Mariëtte T. Ackermans, Frits A. Wijburg

MOL GENET METAB, vol. 84, no. 3, pp. 265-272, 2005

(Citations:5)

]]>Living with classical galactosemia: health-related quality of life consequenceshttp://academic.research.microsoft.com/Publication/28957505Mon, 20 May 2013 13:03:18 GMT2401902628957505A. M. Bosch, M. A. Grootenhuis, H. D. Bakker, H. S. A. Heijmans, F. A. Wijburg, B. F. Last

CANCER GENET CYTOGENET, vol. 113, no. 5, pp. e423-e428, 2004

(Citations:26)

]]>High tolerance for oral galactose in classical galactosaemia: dietary implicationshttp://academic.research.microsoft.com/Publication/30300308Mon, 20 May 2013 13:03:17 GMT2401902630300308A. M. Bosch, H. D. Bakker, L. J. J. M. Wenniger-Prick, R. J. A. Wanders, F. A. Wijburg

ARCH DIS CHILD, vol. 89, no. 11, pp. 1034-1036, 2004

(Citations:10)

]]>Van gen naar ziekte; galactosemie en galatose-I-fosfaaturidyltransferasedeficiëntiehttp://academic.research.microsoft.com/Publication/59373671Mon, 20 May 2013 13:03:16 GMT2401902659373671A. M. Bosch, H. R. Waterham, H. D. Bakker

J ENDOCRINOL INVEST, vol. 148, no. 2, 2004

]]>Clinical features of galactokinase deficiency:A review of the literaturehttp://academic.research.microsoft.com/Publication/48193572Mon, 20 May 2013 13:03:15 GMT2401902648193572A. M. Bosch, H. D. Bakker, A. H. van Gennip, J. V. van Kempen, R. J. A. Wanders, F. A. Wijburg

J INHERIT METAB DIS, vol. 25, no. 8, pp. 629-634, 2003

(Citations:14)

]]>Galactosemie in Nederland, opnieuw beschouwdhttp://academic.research.microsoft.com/Publication/34838147Mon, 20 May 2013 13:03:14 GMT2401902634838147A. M. Bosch, J. B. C. de Klerk, B. T. Poll-The, F. J. van Spronsen, R. J. A. Wanders, H. D. Bakker

Tijdschrift Voor Kindergeneeskunde, vol. 71, no. 2, pp. 206-210, 2003

(Citations:2)

]]>Een premature tweeling met icterus, stollingsstoornissen en een E. coli-sepsishttp://academic.research.microsoft.com/Publication/59384412Mon, 20 May 2013 13:03:13 GMT2401902659384412A. M. Bosch, H. R. Waterham, M. Duran, H. D. Bakker

NED TIJDSCHR GENEESKD, pp. 341-343, 2003

]]>Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica-like syndromehttp://academic.research.microsoft.com/Publication/29569404Mon, 20 May 2013 13:03:12 GMT2401902629569404A. M. Bosch, J. H. Sillevis Smitt, Gennip van A. H, N. G. G. M. Abeling, R. B. H. Schutgens, H. D. Bakker, F. A. Wijburg

BRIT J DERMATOL, vol. 139, no. 3, pp. 488-491, 1998

(Citations:10)

]]>Living With Classical Galactosemia: Health-Related Quality of Life Consequenceshttp://academic.research.microsoft.com/Publication/10762207Mon, 20 May 2013 13:03:11 GMT2401902610762207Annet M. Bosch, Martha A. Grootenhuis, Henk D. Bakker, Hugo S. A. Heijmans, Frits A. Wijburg, Bob F. Last

(Citations:16)

]]>The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: Evaluation of protocol and influence of baseline phenylalanine concentrationhttp://academic.research.microsoft.com/Publication/49535629Mon, 20 May 2013 13:03:10 GMT2401902649535629K. Anjema, G. Venema, F. C. Hofstede, E. C. Carbasius Weber, A. M. Bosch, N. M. Ter Horst, C. E. M. Hollak, C. F. Jonkers, E. M. C. van der Ploeg, M. C. de Vries, R. G. Janssen-Regelink, M. C. H. Janssen, H. Zweers-van Essen, C. C. A. Boelen, N. A. P. van der Herberg-van de Wetering, M. R. Heiner-Fokkema, M. van Rijn, F. J. van Spronsen

MOL GENET METAB

]]>Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: A start toward standardized outcome measurement across developmenthttp://academic.research.microsoft.com/Publication/49535641Mon, 20 May 2013 13:03:09 GMT2401902649535641F. J. van Spronsen, S. C. J. Huijbregts, A. M. Bosch, V. Leuzzi

MOL GENET METAB

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