M M Welsink-Karssies

Affiliations

Amsterdam UMC, University of Amsterdam, Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam, Netherlands.

Publications (11)

Bone mineral density is within normal range in most adult phenylketonuria patients.

Journal of inherited metabolic disease

Avec: Charlotte M A Lubout , Francisco Arrieta Blanco , Katarzyna Bartosiewicz , François Feillet , Maria Gizewska , Carla Hollak , Johanna H van der Lee , François Maillot , Karolina M Stepien , Margreet A E M Wagenmakers , Mendy M Welsink-Karssies , Francjan J van Spronsen , Annet M Bosch

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents.

Orphanet journal of rare diseases

Avec: Nina A Zeltner , Mendy M Welsink-Karssies , Markus A Landolt , Dominique Bosshard-Bullinger , Fabia Keller , Annet M Bosch , Marike Groenendijk , Sarah C Grünert , Daniela Karall , Beatrix Rettenbacher , Sabine Scholl-Bürgi , Matthias R Baumgartner , Martina Huemer

Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.

Journal of inherited metabolic disease

Avec: Merel E Hermans , Michel van Weeghel , Frédéric M Vaz , Sacha Ferdinandusse , Carla E M Hollak , Hidde H Huidekoper , Mirian C H Janssen , André B P van Kuilenburg , Mia L Pras-Raves , Mirjam M C Wamelink , Ronald J A Wanders , Mendy M Welsink-Karssies , Annet M Bosch

The natural history of classic galactosemia: lessons from the GalNet registry.

Orphanet journal of rare diseases

Avec: M E Rubio-Gozalbo , M Haskovic , A M Bosch , B Burnyte , A I Coelho , D Cassiman , M L Couce , C Dawson , D Demirbas , T Derks , F Eyskens , M T Forga , S Grunewald , J Häberle , M Hochuli , A Hubert , H H Huidekoper , P Janeiro , J Kotzka , I Knerr , P Labrune , Y E Landau , J G Langendonk , D Möslinger , D Müller-Wieland , E Murphy , K Õunap , D Ramadza , I A Rivera , S Scholl-Buergi , K M Stepien , A Thijs , C Tran , R Vara , G Visser , R Vos , M de Vries , S E Waisbren , M M Welsink-Karssies , S B Wortmann , M Gautschi , E P Treacy , G T Berry

Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Orphanet journal of rare diseases

Avec: Mendy M Welsink-Karssies , Kim J Oostrom , Merel E Hermans , Carla E M Hollak , Mirian C H Janssen , Janneke G Langendonk , Esmee Oussoren , M Estela Rubio Gozalbo , Maaike de Vries , Gert J Geurtsen , Annet M Bosch

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Orphanet journal of rare diseases

Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers.

Brain communications

Avec: Mendy M Welsink-Karssies , Sacha Ferdinandusse , Gert J Geurtsen , Carla E M Hollak , Hidde H Huidekoper , Mirian C H Janssen , Janneke G Langendonk , Johanna H van der Lee , Roisin O'Flaherty , Kim J Oostrom , Stefan D Roosendaal , M Estela Rubio-Gozalbo , Radka Saldova , Eileen P Treacy , Fred M Vaz , Maaike C de Vries , Marc Engelen , Annet M Bosch

The 1-

Journal of inherited metabolic disease

Avec: Mendy M Welsink-Karssies , Dewi van Harskamp , Sacha Ferdinandusse , Carla E M Hollak , Hidde H Huidekoper , Mirian C H Janssen , E Marleen Kemper , Janneke G Langendonk , M Estela Rubio-Gozalbo , Maaike C de Vries , Frits A Wijburg , Henk Schierbeek , Annet M Bosch

The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.

Molecular genetics and metabolism

Avec: Mendy M Welsink-Karssies , Michel van Weeghel , Carla E M Hollak , Hyung L Elfrink , Mirian C H Janssen , Kent Lai , Janneke G Langendonk , Esmee Oussoren , Jos P N Ruiter , Eileen P Treacy , Maaike de Vries , Sacha Ferdinandusse , Annet M Bosch

Cognitive functioning in patients with classical galactosemia: a systematic review.

Orphanet journal of rare diseases

Avec: Merel E Hermans , Mendy M Welsink-Karssies , Annet M Bosch , Kim J Oostrom , Gert J Geurtsen

Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome.

Molecular genetics and metabolism

Avec: Mendy M Welsink-Karssies , Anouk Schrantee , Matthan W A Caan , Carla E M Hollak , Mirian C H Janssen , Esmee Oussoren , Maaike C de Vries , Stefan D Roosendaal , Marc Engelen , Annet M Bosch

Réseau de co-auteurs

Mendy M Welsink-Karssies 10 collaborations

Annet M Bosch 10 collaborations

Carla E M Hollak 7 collaborations

Mirian C H Janssen 7 collaborations

Janneke G Langendonk 5 collaborations

Merel E Hermans 4 collaborations

Sacha Ferdinandusse 4 collaborations

Kim J Oostrom 4 collaborations

Esmee Oussoren 4 collaborations

Gert J Geurtsen 4 collaborations

Hidde H Huidekoper 3 collaborations

Maaike de Vries 3 collaborations

Maaike C de Vries 3 collaborations

Johanna H van der Lee 2 collaborations

Michel van Weeghel 2 collaborations

M Estela Rubio Gozalbo 2 collaborations

Stefan D Roosendaal 2 collaborations

M Estela Rubio-Gozalbo 2 collaborations

Eileen P Treacy 2 collaborations

Marc Engelen 2 collaborations

Charlotte M A Lubout 1 collaboration

Francisco Arrieta Blanco 1 collaboration

Katarzyna Bartosiewicz 1 collaboration

François Feillet 1 collaboration

Maria Gizewska 1 collaboration

Carla Hollak 1 collaboration

François Maillot 1 collaboration

Karolina M Stepien 1 collaboration

Margreet A E M Wagenmakers 1 collaboration

Francjan J van Spronsen 1 collaboration

Nina A Zeltner 1 collaboration

Markus A Landolt 1 collaboration

Dominique Bosshard-Bullinger 1 collaboration

Fabia Keller 1 collaboration

Marike Groenendijk 1 collaboration

Sarah C Grünert 1 collaboration

Daniela Karall 1 collaboration

Beatrix Rettenbacher 1 collaboration

Sabine Scholl-Bürgi 1 collaboration

Matthias R Baumgartner 1 collaboration

Martina Huemer 1 collaboration

Frédéric M Vaz 1 collaboration

André B P van Kuilenburg 1 collaboration

Mia L Pras-Raves 1 collaboration

Mirjam M C Wamelink 1 collaboration

Ronald J A Wanders 1 collaboration

M E Rubio-Gozalbo 1 collaboration

M Haskovic 1 collaboration

A M Bosch 1 collaboration

B Burnyte 1 collaboration

A I Coelho 1 collaboration

D Cassiman 1 collaboration

M L Couce 1 collaboration

C Dawson 1 collaboration

D Demirbas 1 collaboration

T Derks 1 collaboration

F Eyskens 1 collaboration

M T Forga 1 collaboration

S Grunewald 1 collaboration

J Häberle 1 collaboration

M Hochuli 1 collaboration

A Hubert 1 collaboration

H H Huidekoper 1 collaboration

P Janeiro 1 collaboration

J Kotzka 1 collaboration

I Knerr 1 collaboration

P Labrune 1 collaboration

Y E Landau 1 collaboration

J G Langendonk 1 collaboration

D Möslinger 1 collaboration

D Müller-Wieland 1 collaboration

E Murphy 1 collaboration

K Õunap 1 collaboration

D Ramadza 1 collaboration

I A Rivera 1 collaboration

S Scholl-Buergi 1 collaboration

K M Stepien 1 collaboration

A Thijs 1 collaboration

C Tran 1 collaboration

R Vara 1 collaboration

G Visser 1 collaboration

R Vos 1 collaboration

M de Vries 1 collaboration

S E Waisbren 1 collaboration

S B Wortmann 1 collaboration

M Gautschi 1 collaboration

E P Treacy 1 collaboration

G T Berry 1 collaboration

Roisin O'Flaherty 1 collaboration

Radka Saldova 1 collaboration

Fred M Vaz 1 collaboration

Dewi van Harskamp 1 collaboration

E Marleen Kemper 1 collaboration

Frits A Wijburg 1 collaboration

Henk Schierbeek 1 collaboration

Hyung L Elfrink 1 collaboration

Kent Lai 1 collaboration

Jos P N Ruiter 1 collaboration

Anouk Schrantee 1 collaboration

Matthan W A Caan 1 collaboration