Classic galactosemia: dietary dilemmas

by Bosch, Annet M.
Published 2010

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

by Jaeger, Bregje, Bosch, Annet M.
Published 2016

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

by Bosch, Annet M, Stroek, Kevin, Abeling, Nico G, Waterham, Hans R, IJlst, Lodewijk, Wanders, Ronald JA
Published 2012

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

by Huidekoper, Hidde H., Vaz, Frédéric M., Verrips, Aad, Bosch, Annet M.
Published 2015

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...

by Regnault, Antoine, Burlina, Alberto, Cunningham, Amy, Bettiol, Esther, Moreau-Stucker, Flavie, Benmedjahed, Khadra, Bosch, Annet M
Published 2015

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

by Bosch, Annet M, Burlina, Alberto, Cunningham, Amy, Bettiol, Esther, Moreau-Stucker, Flavie, Koledova, Ekaterina, Benmedjahed, Khadra, Regnault, Antoine
Published 2015

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

by Demirdas, Serwet, Coakley, Katie E, Bisschop, Peter H, Hollak, Carla E M, Bosch, Annet M, Singh, Rani H
Published 2015

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

by 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.
Published 2011

Psychosocial developmental milestones in men with classic galactosemia

by Gubbels, Cynthia Sophia, Maurice-Stam, Heleen, Berry, Gerard Thomas, Bosch, Annet Maria, Waisbren, Susan, Rubio-Gozalbo, Maria Estela, Grootenhuis, Martha Alexandra
Published 2011

Clinical pathways for inborn errors of metabolism: warranted and feasible

by 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
Published 2013

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

by 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.
Published 2016

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

by 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
Published 2014

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

by 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
Published 2011

Fertility preservation in female classic galactosemia patients

by 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
Published 2013

Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype

by Anjema, Karen, van Rijn, Margreet, Hofstede, Floris C, Bosch, Annet M, Hollak, Carla EM, Rubio-Gozalbo, Estela, de Vries, Maaike C, Janssen, Mirian CH, Boelen, Carolien CA, Burgerhof, Johannes GM, Blau, Nenad, Heiner-Fokkema, M Rebecca, van Spronsen, Francjan J
Published 2013

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

by Touw, Catharina M L, Smit, G Peter A, de Vries, Maaike, de Klerk, Johannis B C, Bosch, Annet M, Visser, Gepke, Mulder, Margot F, Rubio-Gozalbo, M Estela, Elvers, Bert, Niezen-Koning, Klary E, Wanders, Ronald J A, Waterham, Hans R, Reijngoud, Dirk-Jan, Derks, Terry G J
Published 2012

Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study

by Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M. J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C. J.
Published 2016

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks

by Hollak, Carla E. M., Biegstraaten, Marieke, Baumgartner, Matthias R., Belmatoug, Nadia, Bembi, Bruno, Bosch, Annet, Brouwers, Martijn, Dekker, Hanka, Dobbelaere, Dries, Engelen, Marc, Groenendijk, Marike C., Lachmann, Robin, Langendonk, Janneke G., Langeveld, Mirjam, Linthorst, Gabor, Morava, Eva, Poll-The, Bwee Tien, Rahman, Shamima, Rubio-Gozalbo, M. Estela, Spiekerkoetter, Ute, Treacy, Eileen, Wanders, Ronald, Zschocke, Johannes, Hagendijk, Rob
Published 2016