Classic galactosemia: dietary dilemmas

Por Bosch, Annet M.
Publicado em 2010

Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience

Por Jaeger, Bregje, Bosch, Annet M.
Publicado no J Inherit Metab Dis (2016)

Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment

Por Huidekoper, Hidde H., Vaz, Frédéric M., Verrips, Aad, Bosch, Annet M.
Publicado no Eur J Pediatr (2015)

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

Por Bosch, Annet M, Stroek, Kevin, Abeling, Nico G, Waterham, Hans R, IJlst, Lodewijk, Wanders, Ronald JA
Publicado em 2012

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...

Por Regnault, Antoine, Burlina, Alberto, Cunningham, Amy, Bettiol, Esther, Moreau-Stucker, Flavie, Benmedjahed, Khadra, Bosch, Annet M
Publicado no Orphanet J Rare Dis (2015)

The Ketogenic Diet Is Well Tolerated and Can Be Effective in Patients with Argininosuccinate Lyase Deficiency and Refractory Epilepsy

Por Peuscher, Rosanne, Dijsselhof, Monique E., Abeling, Nico G., Van Rijn, Margreet, Van Spronsen, Francjan J., Bosch, Annet M.
Publicado em 2011

Bone health in phenylketonuria: a systematic review and meta-analysis

Por Demirdas, Serwet, Coakley, Katie E, Bisschop, Peter H, Hollak, Carla E M, Bosch, Annet M, Singh, Rani H
Publicado no Orphanet J Rare Dis (2015)

Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries

Por Bosch, Annet M, Burlina, Alberto, Cunningham, Amy, Bettiol, Esther, Moreau-Stucker, Flavie, Koledova, Ekaterina, Benmedjahed, Khadra, Regnault, Antoine
Publicado no Orphanet J Rare Dis (2015)

Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation

Por Tuijnenburg, Paul, Cuadrado, Eloy, Bosch, Annet M., Kindermann, Angelika, Jansen, Machiel H., Alders, Marielle, van Leeuwen, Ester M. M., Kuijpers, Taco W.
Publicado no Front Pediatr (2017)

Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning

Por Eggink, Hendriekje, Kuiper, Anouk, Peall, Kathryn J, Contarino, Maria Fiorella, Bosch, Annet M, Post, Bart, Sival, Deborah A, Tijssen, Marina AJ, de Koning, Tom J
Publicado no Orphanet J Rare Dis (2014)

Clinical pathways for inborn errors of metabolism: warranted and feasible

Por Demirdas, Serwet, van Kessel, Imke N, Korndewal, Marjolein J, Hollak, Carla EM, Meutgeert, Hanka, Klaren, Anja, van Rijn, Margreet, van Spronsen, Francjan J, Bosch, Annet M
Publicado em 2013

The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?

Por Anjema, Karen, Hofstede, Floris C., Bosch, Annet M., Rubio–Gozalbo, M. Estela, de Vries, Maaike C., Boelen, Carolien C.A., van Rijn, Margreet, van Spronsen, Francjan J.
Publicado no Orphanet J Rare Dis (2016)

Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life

Por ten Hoedt, Amber E., Maurice-Stam, Heleen, Boelen, Carolien C. A., Rubio-Gozalbo, M. Estela, van Spronsen, Francjan J., Wijburg, Frits A., Bosch, Annet M., Grootenhuis, Martha A.
Publicado em 2011

Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia

Por Welling, Lindsey, Waisbren, Susan E., Antshel, Kevin M., Colhoun, Hugh-Owen, Gautschi, Matthias, Grünewald, Stephanie, Holman, Rebecca, van der Lee, Johanna H., Treacy, Eileen P., Bosch, Annet M.
Publicado no JIMD Rep (2017)

Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis

Por van Erven, Britt, Welling, Lindsey, van Calcar, Sandra C., Doulgeraki, Artemis, Eyskens, François, Gribben, Joanna, Treacy, Eileen P., Vos, Rein, Waisbren, Susan E., Rubio-Gozalbo, M. Estela, Bosch, Annet M.
Publicado no JIMD Rep (2016)

"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial

Por ten Hoedt, Amber E, Hollak, Carla EM, Boelen, Carolien CA, van der Herberg-van de Wetering, N Ada P, ter Horst, Nienke M, Jonkers, Cora F, Wijburg, Frits A, Bosch, Annet M
Publicado em 2011

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria

Por Demirdas, Serwet, van Spronsen, Francjan J., Hollak, Carla E.M., van der Lee, J. Hanneke, Bisschop, Peter H., Vaz, Fred M., ter Horst, Nienke M., Rubio-Gozalbo, M. Estela, Bosch, Annet M.
Publicado no Ann Nutr Metab (2017)

High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial

Por ten Hoedt, Amber E., de Sonneville, Leo M. J., Francois, Baudouin, ter Horst, Nienke M., Janssen, Mirian C. H., Rubio-Gozalbo, M. Estela, Wijburg, Frits A., Hollak, Carla E. M., Bosch, Annet M.
Publicado em 2010

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 treatment

Por Bosch, Annet M., Abeling, Nico G. G. M., IJlst, Lodewijk, Knoester, Hennie, van der Pol, W. Ludo, Stroomer, Alida E. M., Wanders, Ronald J., Visser, Gepke, Wijburg, Frits A., Duran, Marinus, Waterham, Hans R.
Publicado em 2010

Fertility preservation in female classic galactosemia patients

Por van Erven, Britt, Gubbels, Cynthia S, van Golde, Ron J, Dunselman, Gerard A, Derhaag, Josien G, de Wert, Guido, Geraedts, Joep P, Bosch, Annet M, Treacy, Eileen P, Welt, Corrine K, Berry, Gerard T, Rubio-Gozalbo, M Estela
Publicado em 2013