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Inherited metabolic diseases and pregnancy.
Spronsen FJ, Smit GP, Erwich JJ. Spronsen FJ, et al. BJOG. 2005 Jan;112(1):2-11. doi: 10.1111/j.1471-0528.2004.00297.x. BJOG. 2005. PMID: 15663391 Review. No abstract available.
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.
Ebberink MS, Koster J, Visser G, Spronsen Fv, Stolte-Dijkstra I, Smit GP, Fock JM, Kemp S, Wanders RJ, Waterham HR. Ebberink MS, et al. Among authors: spronsen fv. J Med Genet. 2012 May;49(5):307-13. doi: 10.1136/jmedgenet-2012-100778. J Med Genet. 2012. PMID: 22581968
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization.
Stroek K, Boelen A, Bouva MJ, De Sain-van der Velden M, Schielen PCJI, Maase R, Engel H, Jakobs B, Kluijtmans LAJ, Mulder MF, Rubio-Gozalbo ME, van Spronsen FJ, Visser G, de Vries MC, Williams M, Heijboer AC, Kemper EA, Bosch AM. Stroek K, et al. Among authors: van spronsen fj. JIMD Rep. 2020 May 13;54(1):68-78. doi: 10.1002/jmd2.12124. eCollection 2020 Jul. JIMD Rep. 2020. PMID: 32685353 Free PMC article.
PKU dietary handbook to accompany PKU guidelines.
MacDonald A, van Wegberg AMJ, Ahring K, Beblo S, Bélanger-Quintana A, Burlina A, Campistol J, Coşkun T, Feillet F, Giżewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F, van Spronsen FJ. MacDonald A, et al. Among authors: van spronsen fj. Orphanet J Rare Dis. 2020 Jun 30;15(1):171. doi: 10.1186/s13023-020-01391-y. Orphanet J Rare Dis. 2020. PMID: 32605583 Free PMC article. Review.
Aspartame and Phe-Containing Degradation Products in Soft Drinks across Europe.
van Vliet K, Melis ES, de Blaauw P, van Dam E, Maatman RGHJ, Abeln D, van Spronsen FJ, Heiner-Fokkema MR. van Vliet K, et al. Among authors: van spronsen fj. Nutrients. 2020 Jun 24;12(6):1887. doi: 10.3390/nu12061887. Nutrients. 2020. PMID: 32599819 Free PMC article.
Treating neutropenia and neutrophil dysfunction in glycogen storage disease IB with an SGLT2-inhibitor.
Wortmann SB, Van Hove JLK, Derks TGJ, Chevalier N, Knight V, Koller A, Oussuren E, Mayr JA, van Spronsen FJ, Lagler FB, Gaughan S, Van Schaftingen E, Veiga-da-Cunha M. Wortmann SB, et al. Among authors: van spronsen fj. Blood. 2020 Apr 15:blood.2019004465. doi: 10.1182/blood.2019004465. Online ahead of print. Blood. 2020. PMID: 32294159
Dried blood spot versus venous blood sampling for phenylalanine and tyrosine.
van Vliet K, van Ginkel WG, van Dam E, de Blaauw P, Koehorst M, Kingma HA, van Spronsen FJ, Heiner-Fokkema MR. van Vliet K, et al. Among authors: van spronsen fj. Orphanet J Rare Dis. 2020 Apr 3;15(1):82. doi: 10.1186/s13023-020-1343-7. Orphanet J Rare Dis. 2020. PMID: 32245393 Free PMC article.
Does the 48-hour BH4 loading test miss responsive PKU patients?
van Wegberg AMJ, Evers RAF, van Dam E, de Vries MC, Janssen MCH, Heiner-Fokkema MR, van Spronsen FJ. van Wegberg AMJ, et al. Among authors: van spronsen fj. Mol Genet Metab. 2020 Mar;129(3):186-192. doi: 10.1016/j.ymgme.2019.12.011. Epub 2019 Dec 24. Mol Genet Metab. 2020. PMID: 31924462 Free article.
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.
van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, De Laet C, Vara R, Rahman Y, Cassiman D, Eyskens F, Timmer C, Mumford N, Bierau J, van Hasselt PM, Gissen P, Goyens PJ, McKiernan PJ, Wilcox G, Morris AAM, Jameson EA, Huijbregts SCJ, van Spronsen FJ. van Vliet K, et al. Among authors: van spronsen fj. Orphanet J Rare Dis. 2019 Dec 4;14(1):285. doi: 10.1186/s13023-019-1259-2. Orphanet J Rare Dis. 2019. PMID: 31801588 Free PMC article.
The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients.
van Ginkel WG, van Reemst HE, Kienstra NS, Daly A, Rodenburg IL, MacDonald A, Burgerhof JGM, de Blaauw P, van de Krogt J, Santra S, Heiner-Fokkema MR, van Spronsen FJ. van Ginkel WG, et al. Among authors: van spronsen fj. Nutrients. 2019 Nov 18;11(11):2816. doi: 10.3390/nu11112816. Nutrients. 2019. PMID: 31752110 Free PMC article. Clinical Trial.
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