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	1.	Galactosaemia - should it be screened in newborns? [electronic resource] by Bosch, Annet M Producer: 20190930 In: Developmental period medicine vol. 22 Availability: No items available. Save to lists Add to cart (remove)
	2.	Classical galactosaemia revisited. [electronic resource] by Bosch, Annet M Producer: 20070108 In: Journal of inherited metabolic disease vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Classic galactosemia: dietary dilemmas. [electronic resource] by Bosch, Annet M Producer: 20110715 In: Journal of inherited metabolic disease vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience. [electronic resource] by Jaeger, Bregje Bosch, Annet M Producer: 20171204 In: Journal of inherited metabolic disease vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency. [electronic resource] by O'Callaghan, Benjamin Bosch, Annet M Houlden, Henry Producer: 20200730 In: Journal of inherited metabolic disease vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment. [electronic resource] by Huidekoper, Hidde H Vaz, Frédéric M Verrips, Aad Bosch, Annet M Producer: 20161108 In: European journal of pediatrics vol. 175 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients' and parents' quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires. [electronic resource] by Regnault, Antoine Burlina, Alberto Cunningham, Amy Bettiol, Esther Moreau-Stucker, Flavie Benmedjahed, Khadra Bosch, Annet M Producer: 20160229 In: Orphanet journal of rare diseases vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	The time consuming nature of phenylketonuria: a cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands. [electronic resource] by Eijgelshoven, Indra Demirdas, Serwet Smith, T Alexander van Loon, Jeanni M T Latour, Sabine Bosch, Annet M Producer: 20140122 In: Molecular genetics and metabolism vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. [electronic resource] by Bosch, Annet M Stroek, Kevin Abeling, Nico G Waterham, Hans R Ijlst, Lodewijk Wanders, Ronald J A Producer: 20130410 In: Orphanet journal of rare diseases vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Screening for lysosomal acid lipase deficiency: A retrospective data mining study and evaluation of screening criteria. [electronic resource] by Draijer, Laura G Bosch, Annet M Wiegman, Albert Sjouke, Barbara Benninga, Marc A Koot, Bart G P Producer: 20191121 In: Atherosclerosis vol. 278 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research. [electronic resource] by van Weeghel, Michel Welling, Lindsey Treacy, Eileen P Wanders, Ronald J A Ferdinandusse, Sacha Bosch, Annet M Producer: 20190318 In: Orphanet journal of rare diseases vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Predicting health-related quality of life of parents of children with inherited metabolic diseases. [electronic resource] by Hatzmann, Janneke Valstar, Marlies J Bosch, Annet M Wijburg, Frits A Heymans, Hugo S A Grootenhuis, Martha A Producer: 20090813 In: Acta paediatrica (Oslo, Norway : 1992) vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries. [electronic resource] by Bosch, Annet M Burlina, Alberto Cunningham, Amy Bettiol, Esther Moreau-Stucker, Flavie Koledova, Ekaterina Benmedjahed, Khadra Regnault, Antoine Producer: 20160527 In: Orphanet journal of rare diseases vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Bone health in phenylketonuria: a systematic review and meta-analysis. [electronic resource] by Demirdas, Serwet Coakley, Katie E Bisschop, Peter H Hollak, Carla E M Bosch, Annet M Singh, Rani H Producer: 20160121 In: Orphanet journal of rare diseases vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy. [electronic resource] by Peuscher, Rosanne Dijsselhof, Monique E Abeling, Nico G Van Rijn, Margreet Van Spronsen, Francjan J Bosch, Annet M Producer: 20130225 In: JIMD reports vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Living with classical galactosemia: health-related quality of life consequences. [electronic resource] by Bosch, Annet M Grootenhuis, Martha A Bakker, Henk D Heijmans, Hugo S A Wijburg, Frits A Last, Bob F Producer: 20040809 In: Pediatrics vol. 113 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia. [electronic resource] by Huidekoper, Hidde H Bosch, Annet M van der Crabben, Saskia N Sauerwein, Hans P Ackermans, Mariëtte T Wijburg, Frits A Producer: 20050705 In: Molecular genetics and metabolism vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes. [electronic resource] by Bosch, Annet M Kamsteeg, Erik-Jan Rodenburg, Richard J van Deutekom, Arend W Buis, Dennis R Engelen, Marc Cobben, Jan-Maarten Publication details: Molecular genetics and metabolism reports Dec 2018 In: Molecular genetics and metabolism reports vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical [electronic resource] by Tuijnenburg, Paul Cuadrado, Eloy Bosch, Annet M Kindermann, Angelika Jansen, Machiel H Alders, Marielle van Leeuwen, Ester M M Kuijpers, Taco W Publication details: Frontiers in pediatrics 2017 In: Frontiers in pediatrics vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia--and review of the literature. [electronic resource] by Schadewaldt, Peter Hammen, Hans-Werner Kamalanathan, Loganathan Wendel, Udo Schwarz, Martin Bosch, Annet M Guion, Nele Janssen, Mirian Boers, Godfried H J Producer: 20090917 In: European journal of pediatrics vol. 168 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 66 results.