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ds. G. Poortman-Weerdt

ds. G. Poortman-Weerdt

Full Professor
ds. G. Poortman-Weerdt
  • Section Metabolic Diagnostics

Side Activities

Board member United for Metabolic Diseases

Member of review committee training VKGL

 

Faculty member ETAC SSIEM 2019-

Research Output (108)

Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome

Korteling Dorinde, Boks Marco P, Fiksinski Ania M, van Hoek Ilja N, Vorstman Jacob A S, Verhoeven-Duif Nanda M, Jans Judith J M, Zinkstok Janneke R 9 Mar 2022, In: Translational Psychiatry. 12 , p. 1-7

UNTARGETED METABOLIC PROFILING IN DRIED BLOOD SPOTS REVEALS METABOLIC FINGERPRINT FOR 22Q11.2 DELETION SYNDROME

Zinkstok Janneke, Korteling Dorinde, Fiksinski Ania, Jans Judith, Verhoeven Nanda, Boks Marco Oct 2021, In: European Neuropsychopharmacology. 51 , p. E130-E130

Long-term effect of hematopoietic cell transplantation on systemic inflammation in patients with mucopolysaccharidoses

van den Broek Brigitte T A, Lindemans Caroline A, Boelens Jaap Jan, Delemarre Eveline M, Drylewicz Julia, Verhoeven-Duif Nanda, van Hasselt Peter M, Nierkens Stefan 24 Aug 2021, In: Blood Advances. 5 , p. 3092-3101 10 p.

Inborn disorders of the malate aspartate shuttle

Broeks Melissa H, van Karnebeek Clara D M, Wanders Ronald J A, Jans Judith J M, Verhoeven-Duif Nanda M Jul 2021, In: Journal of Inherited Metabolic Disease. 44 , p. 792-808 17 p.

Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia

van Dooijeweert Birgit, Broeks Melissa H, van Beers Eduard J, Verhoeven-Duif Nanda M, van Solinge Wouter W, Nieuwenhuis Edward E S, Jans Judith J, van Wijk Richard, Bartels Marije 17 May 2021, In: British Journal of Haematology. 193 , p. 1185-1193 9 p.

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

Ghosh Shereen G, Lee Sangmoon, Fabunan Rudy, Chai Guoliang, Zaki Maha S, Abdel-Salam Ghada, Sultan Tipu, Ben-Omran Tawfeg, Alvi Javeria Raza, McEvoy-Venneri Jennifer, Stanley Valentina, Patel Aakash, Ross Danica, Ding Jeffrey, Jain Mohit, Pan Daqiang, Lübbert Philipp, Kammerer Bernd, Wiedemann Nils, Verhoeven-Duif Nanda M, Jans Judith J, Murphy David, Toosi Mehran Beiraghi, Ashrafzadeh Farah, Imannezhad Shima, Karimiani Ehsan Ghayoor, Ibrahim Khalid, Waters Elizabeth R, Maroofian Reza, Gleeson Joseph G Mar 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23 , p. 524-533 10 p.

The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism

Lehmann Vivian, Schene Imre F., Ardisasmita Arif I., Liv Nalan, Veenendaal Tineke, Klumperman Judith, van der Doef Hubert P.J., Verkade Henkjan J., Verstegen Monique M.A., van der Laan Luc J.W., Jans Judith J.M., Verhoeven-Duif Nanda M., van Hasselt Peter M., Nieuwenhuis Edward E.S., Spee Bart, Fuchs Sabine A. 2021, In: Journal of Inherited Metabolic Disease. 45 , p. 353-365 13 p.

Metabolic fingerprint in hereditary spherocytosis correlates with red blood cell characteristics and clinical severity

Van Dooijeweert Birgit, Broeks Melissa H., Verhoeven-Duif Nanda M., Van Solinge Wouter W., Van Beers Eduard J., Rab Minke A.E., Nieuwenhuis Edward E.S., Jans Judith J.M., Bartels Marije, Van Wijk Richard 2021, In: HemaSphere. 5 , p. 1-4

High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome

Molema F, Haijes H A, Janssen M C, Bosch A M, van Spronsen F J, Mulder M F, Verhoeven-Duif N M, Jans J J M, van der Ploeg A T, Wagenmakers M A, Rubio-Gozalbo M E, Brouwers M C G J, de Vries M C, Fuchs S, Langendonk J G, Rizopoulos D, van Hasselt P M, Williams M 25 Dec 2020, In: Clinical Nutrition. 40 , p. 3622-3630 9 p.

Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency

Van Dooijeweert Birgit, Broeks Melissa H, Verhoeven-Duif Nanda M, Van Beers Eduard J, Nieuwenhuis Edward E S, Van Solinge Wouter W, Bartels Marije, Jans Judith J, Van Wijk Richard 10 Sep 2020, In: Haematologica. Online ahead of print , p. 1-20

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