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41.
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Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities. [electronic resource] by
- Welsink-Karssies, Mendy M
- Oostrom, Kim J
- Hermans, Merel E
- Hollak, Carla E M
- Janssen, Mirian C H
- Langendonk, Janneke G
- Oussoren, Esmee
- Rubio Gozalbo, M Estela
- de Vries, Maaike
- Geurtsen, Gert J
- Bosch, Annet M
Producer: 20210618
In:
Orphanet journal of rare diseases vol. 15
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42.
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Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions. [electronic resource] by
- Colhoun, Hugh-Owen
- Rubio Gozalbo, Estela M
- Bosch, Annet M
- Knerr, Ina
- Dawson, Charlotte
- Brady, Jennifer
- Galligan, Marie
- Stepien, Karolina
- O'Flaherty, Roisin
- Catherine Moss, C
- Peter Barker, P
- Fitzgibbon, Maria
- Doran, Peter P
- Treacy, Eileen P
Producer: 20190318
In:
Orphanet journal of rare diseases vol. 13
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43.
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Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study. [electronic resource] by
- van Rijt, Willemijn J
- Ferdinandusse, Sacha
- Giannopoulos, Panagiotis
- Ruiter, Jos P N
- de Boer, Lonneke
- Bosch, Annet M
- Huidekoper, Hidde H
- Rubio-Gozalbo, M Estela
- Visser, Gepke
- Williams, Monique
- Wanders, Ronald J A
- Derks, Terry G J
Producer: 20200916
In:
Journal of inherited metabolic disease vol. 42
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44.
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A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands. [electronic resource] by
- Jager, Emmalie A
- Kuijpers, Myrthe M
- Bosch, Annet M
- Mulder, Margot F
- Gozalbo, Estela R
- Visser, Gepke
- de Vries, Maaike
- Williams, Monique
- Waterham, Hans R
- van Spronsen, Francjan J
- Schielen, Peter C J I
- Derks, Terry G J
Producer: 20200916
In:
Journal of inherited metabolic disease vol. 42
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45.
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Fertility preservation in female classic galactosemia patients. [electronic resource] 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
Producer: 20140102
In:
Orphanet journal of rare diseases vol. 8
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46.
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Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study. [electronic resource] by
- Demirdas, Serwet
- Maurice-Stam, Heleen
- Boelen, Carolien C A
- Hofstede, Floris C
- Janssen, Mirian C H
- Langendonk, Janneke G
- Mulder, Margot F
- Rubio-Gozalbo, M Estela
- van Spronsen, Francjan J
- de Vries, Maaike
- Grootenhuis, Martha A
- Bosch, Annet M
Producer: 20140725
In:
Molecular genetics and metabolism vol. 110 Suppl
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47.
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The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes. [electronic resource] by
- Welsink-Karssies, Mendy M
- van Weeghel, Michel
- Hollak, Carla E M
- Elfrink, Hyung L
- Janssen, Mirian C H
- Lai, Kent
- Langendonk, Janneke G
- Oussoren, Esmee
- Ruiter, Jos P N
- Treacy, Eileen P
- de Vries, Maaike
- Ferdinandusse, Sacha
- Bosch, Annet M
Producer: 20201123
In:
Molecular genetics and metabolism vol. 129
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48.
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Bone mineral density is within normal range in most adult phenylketonuria patients. [electronic resource] by
- Lubout, Charlotte M A
- Arrieta Blanco, Francisco
- Bartosiewicz, Katarzyna
- Feillet, François
- Gizewska, Maria
- Hollak, Carla
- van der Lee, Johanna H
- Maillot, François
- Stepien, Karolina M
- Wagenmakers, Margreet A E M
- Welsink-Karssies, Mendy M
- van Spronsen, Francjan J
- Bosch, Annet M
Producer: 20210702
In:
Journal of inherited metabolic disease vol. 43
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49.
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The 1- [electronic resource] by
- Welsink-Karssies, Mendy M
- van Harskamp, Dewi
- Ferdinandusse, Sacha
- Hollak, Carla E M
- Huidekoper, Hidde H
- Janssen, Mirian C H
- Kemper, E Marleen
- Langendonk, Janneke G
- Rubio-Gozalbo, M Estela
- de Vries, Maaike C
- Wijburg, Frits A
- Schierbeek, Henk
- Bosch, Annet M
Producer: 20210823
In:
Journal of inherited metabolic disease vol. 43
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50.
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Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype. [electronic resource] by
- Anjema, Karen
- van Rijn, Margreet
- Hofstede, Floris C
- Bosch, Annet M
- Hollak, Carla E M
- Rubio-Gozalbo, Estela
- de Vries, Maaike C
- Janssen, Mirian C H
- Boelen, Carolien C A
- Burgerhof, Johannes G M
- Blau, Nenad
- Heiner-Fokkema, M Rebecca
- van Spronsen, Francjan J
Producer: 20150330
In:
Orphanet journal of rare diseases vol. 8
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51.
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Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency. [electronic resource] by
- Bleeker, Jeannette C
- Kok, Irene L
- Ferdinandusse, Sacha
- de Vries, Maaike
- Derks, Terry G J
- Mulder, Margot F
- Williams, Monique
- Gozalbo, Estela Rubio
- Bosch, Annet M
- van den Hurk, Dorine T
- de Sain-van der Velden, Monique G M
- Waterham, Hans R
- Wijburg, Frits A
- Visser, Gepke
Producer: 20200401
In:
Journal of inherited metabolic disease vol. 42
Availability: No items available.
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52.
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Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia. [electronic resource] by
- Kuiper, Anouk
- Grünewald, Stephanie
- Murphy, Elaine
- Coenen, Maraike A
- Eggink, Hendriekje
- Zutt, Rodi
- Rubio-Gozalbo, Maria E
- Bosch, Annet M
- Williams, Monique
- Derks, Terry G J
- Lachmann, Robin H L
- Brouwers, Martijn C G J
- Janssen, Mirian C H
- Tijssen, Marina A
- de Koning, Tom J
Producer: 20200625
In:
Journal of inherited metabolic disease vol. 42
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53.
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Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening. [electronic resource] by
- Arnold, Georgianne L
- Salazar, Denise
- Neidich, Julie A
- Suwannarat, Pim
- Graham, Brett H
- Lichter-Konecki, Uta
- Bosch, Annet M
- Cusmano-Ozog, Kristina
- Enns, Greg
- Wright, Erica L
- Lanpher, Brendan C
- Owen, Natalie N
- Lipson, Mark H
- Cerone, Roberto
- Levy, Paul
- Wong, Lee-Jun C
- Dezsofi, Antal
Producer: 20121203
In:
Molecular genetics and metabolism vol. 106
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54.
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Issues with European guidelines for phenylketonuria - Authors' reply. [electronic resource] by
- van Spronsen, Francjan J
- van Wegberg, Annemiek M J
- Ahring, Kirsten
- Bélanger-Quintana, Amaya
- Blau, Nenad
- Bosch, Annet M
- Burlina, Alberto
- Campistol, Jaime
- Feillet, Francois
- Giżewska, Maria
- Huijbregts, Stephan C
- Kearney, Shauna
- Leuzzi, Vincenzo
- Maillot, Francois
- Muntau, Ania C
- Trefz, Fritz K
- van Rijn, Margreet
- MacDonald, Anita
Producer: 20180423
In:
The lancet. Diabetes & endocrinology vol. 5
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55.
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Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. [electronic resource] 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
Producer: 20130410
In:
Orphanet journal of rare diseases vol. 7
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56.
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Key European guidelines for the diagnosis and management of patients with phenylketonuria. [electronic resource] by
- van Spronsen, Francjan J
- van Wegberg, Annemiek Mj
- Ahring, Kirsten
- Bélanger-Quintana, Amaya
- Blau, Nenad
- Bosch, Annet M
- Burlina, Alberto
- Campistol, Jaime
- Feillet, Francois
- Giżewska, Maria
- Huijbregts, Stephan C
- Kearney, Shauna
- Leuzzi, Vincenzo
- Maillot, Francois
- Muntau, Ania C
- Trefz, Fritz K
- van Rijn, Margreet
- Walter, John H
- MacDonald, Anita
Producer: 20180914
In:
The lancet. Diabetes & endocrinology vol. 5
Availability: No items available.
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57.
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Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study. [electronic resource] by
- Keil, Stefanie
- Anjema, Karen
- van Spronsen, Francjan J
- Lambruschini, Nilo
- Burlina, Alberto
- Bélanger-Quintana, Amaya
- Couce, Maria L
- Feillet, Francois
- Cerone, Roberto
- Lotz-Havla, Amelie S
- Muntau, Ania C
- Bosch, Annet M
- Meli, Concetta A P
- Billette de Villemeur, Thierry
- Kern, Ilse
- Riva, Enrica
- Giovannini, Marcello
- Damaj, Lena
- Leuzzi, Vincenzo
- Blau, Nenad
Producer: 20130816
In:
Pediatrics vol. 131
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58.
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Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study. [electronic resource] 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
Producer: 20180205
In:
Behavior genetics vol. 47
Availability: No items available.
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59.
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Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study. [electronic resource] by
- Jahja, Rianne
- Huijbregts, Stephan C 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
- van Spronsen, Francjan J
Producer: 20140725
In:
Molecular genetics and metabolism vol. 110 Suppl
Availability: No items available.
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60.
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Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study. [electronic resource] 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
Producer: 20171207
In:
Journal of inherited metabolic disease vol. 39
Availability: No items available.
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