Kevin Stroek
Image Image

28 mei 2021

“Optimization of established and assessment of novel newborn screening strategies in the Netherlands”

Promotores: Prof. dr. Annet Bosch en Prof. dr. Anita Boelen

Pippa Staps
Image Image

20 mei 2021

"Sjögren-Larsson Syndrome: New insights in disease mechanisms"

Promotor: Prof. dr. Michèl Willemsen, Co-promotor: Dr. Thomas Theelen

Ana Pop
Image Image

7 april 2021

"Functional analysis of genetic variants: contribution to the diagnosis of inherited metabolic diseases"

Promotor: Prof. dr. Gajja Salomons

Suzan Knottnerus
Image Image

28 januari 2021

“Breaking down long-chain fatty acid oxidation disorders: from pathophysiology to better treatment”

(Co-) promotoren: Prof. dr. Frits Wijburg, Prof. dr. Edward Nieuwenhuis, Dr. Gepke Visser, Prof. dr. Riekelt Houtkooper

Mendy Welsink-Karssies
Image Image

22 januari 2021

“Classical Galactosemia - Elucidating the spectrum of clinical outcome”

Promotor: Prof. dr. Frits Wijburg, co-promotor: Prof. dr. Annet Bosch

Jos Janssen
Image Image

21 januari 2021

“Liver disease in Congenital Disorders of Glycosylation”

Promotoren: Prof. Dr. J.P.H. Drenth en Prof. Dr. D.J. Lefeber

Brigitte van den Broek
Image

16 december 2020

“Hematopoietic Cell Transplantation in Inborn Errors of Metabolism: Hurdles to ‘real’ cure”

(Co-) promotoren: Prof. dr. Jaap Jan Boelens, Prof. dr. Nanda Verhoeven-Duif, Dr. Peter M. van Hasselt en Dr. Stefan Nierkens.

Jia Liu
Image

4 december 2020

"Modulating diet and mitochondria to promote longevity"

Promotor: Prof. Dr. R.H.L. Houtkooper, Copromotor: Dr. A.W. MacInnes.

Elles van der Louw
Image

10 november 2020

“Ketogenic Diet Therapy; Improving Outcome, Management and New Indications”

(Co-) promotoren: Prof. dr. P.A.E. Sillevis Smitt, Dr. R.F. Neuteboom, Dr. J.F. Olieman.

Minela Haskovic
Image

2 oktober 2020

“Classic galactosemia: natural history and new treatment approaches”

prof. dr. Estela Rubio-Gozalbo

Femke Molema
Image

22 september 2020

"Shortcomings of Currently Applied —Dietary— Treatment for Patients with Classical Organic Acidemias and Urea-cycle Disorders. Recommendations to improve outcome"

Promotor: Prof.dr. Ans van der Ploeg, co-promotor: Dr. Monique Williams.

Simon Körver
Image

22 september 2020

“Fabry and the Brain. Incorporating patients' illness perceptions into the physicians' practice”

Promotoren: prof.dr. C.E.M. Hollak & prof.dr. I.N. van Schaik.

Marte Molenaars
Image

11 december 2020

'"Mitochondrial Communication Is Key': Cross-compartmental signals maintaining proteostasis and longevity"

Promotor: Prof. Dr. R.H.L. Houtkooper, Copromotoren: Dr. A.W. MacInnes en Dr. G.E. Janssens.

Marjolein van den Boogert
Image Image

16 september 2020

"Glycosylation defects in lipid metabolism"

Promotoren: prof. dr. E.S.G. Stroes & prof. dr. D.J. Lefeber.

Irene Hoogeveen
Image Image

24 augustus 2020

“Glycogen storage disease type IIIa – towards precision medicine.”

(Co-)promotoren: Prof. dr. Francjan van Spronsen en Dr. Terry Derks.

Fenna Hensen
Image Image

3 juli 2020

“Insights into the mitochondrial gene expression machinery: the identification and characterization of novel proteins associated with mitochondrial nucleoids”

(Co-) promotoren: Prof. dr. J.A.M. Smeitink, dr. J.N. Spelbrink.

Hanneke Haijes-Siepel
Image Image

14 mei 2020

“Important insights from discrete details: gaining insight in pathophysiology of inborn errors of metabolism through deep metabolic phenotyping.”

(Co-)promotoren: Nanda Verhoeven-Duif, Judith Jans en Peter van Hasselt.

Anouk Kuiper
Image Image

7 juli 2020

“Movement disorders in inborn errors of metabolism.”

Promotoren: Prof. dr. T.J. de Koning en Prof. dr. M.A.J. de Koning-Tijssen.

Monica Niño Martínez
Image Image

7 juli 2020

“The Genotype-Phenotype Correlation in Pompe Disease Studied from an Enzymatic and Molecular Perspective.”

Promotor: Prof. dr. Ans van der Ploeg, co-promotor: Dr. Pim Pijnappel.

Wiggert van Ginkel
Image

18 november 2020

“Tyrosinemia type 1, remaining challenges after introduction of NTBC”

Prof. Dr. E.A. van der Zee en Prof. Dr. F.J. van Spronsen

Nurulamin Abu Bakar
Image

19 juni 2020

“Glycomics by mass spectrometry for the diagnosis of congenital disorders of glycosylation (CDG).”

Prof. dr. Dirk J. Lefeber, Prof. dr. Ron A. Wevers, Dr. Monique van Scherpenzeel.

Met opbrengsten uit de VriendenLoterij PrijzenMarathon heeft Stichting Metakids het samenwerkingsverband (UMD) van zes universitaire ziekenhuizen kunnen faciliteren. Ook is onderzoek binnen het UMD gestart. Deelnemers van de VriendenLoterij spelen sinds de campagne in 2018 geoormerkt mee voor dit goede doel waardoor dankzij hen nog steeds fondsen geworven worden.
Daarnaast zullen Stichting Metakids en het UMD gezamenlijk en afzonderlijk actief werven voor additionele subsidiegelden om het UMD verder te ontwikkelen tot een duurzaam samenwerkingsverband.

© UMD 2019 - 2021