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Page 1
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.
Touw CM, Smit GP, de Vries M, de Klerk JB, Bosch AM, Visser G, Mulder MF, Rubio-Gozalbo ME, Elvers B, Niezen-Koning KE, Wanders RJ, Waterham HR, Reijngoud DJ, Derks TG. Touw CM, et al. Among authors: de klerk jb. Orphanet J Rare Dis. 2012 May 25;7:30. doi: 10.1186/1750-1172-7-30. Orphanet J Rare Dis. 2012. PMID: 22630369 Free PMC article.
Genetic basis of hyperlysinemia.
Houten SM, Te Brinke H, Denis S, Ruiter JP, Knegt AC, de Klerk JB, Augoustides-Savvopoulou P, Häberle J, Baumgartner MR, Coşkun T, Zschocke J, Sass JO, Poll-The BT, Wanders RJ, Duran M. Houten SM, et al. Among authors: de klerk jb. Orphanet J Rare Dis. 2013 Apr 9;8:57. doi: 10.1186/1750-1172-8-57. Orphanet J Rare Dis. 2013. PMID: 23570448 Free PMC article.
The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria.
Hoeksma M, Van Rijn M, Verkerk PH, Bosch AM, Mulder MF, de Klerk JB, de Koning TJ, Rubio-Gozalbo E, de Vries M, Sauer PJ, van Spronsen FJ. Hoeksma M, et al. Among authors: de klerk jb, de vries m, de koning tj. J Inherit Metab Dis. 2005;28(6):845-54. doi: 10.1007/s10545-005-0122-x. J Inherit Metab Dis. 2005. PMID: 16435176
A survey of natural protein intake in Dutch phenylketonuria patients: insight into estimation or measurement of dietary intake.
van Rijn M, Jansma J, Brinksma A, Bakker HD, Boers GH, Carbasius-Weber E, Douwes AC, van den Herberg A, Ter Horst NM, de Klerk JB, de Koning TJ, van den Ploeg L, Rubio-Gozalbo ME, Sels JP, Sengers RC, de Valk HW, Termeulen H, Zweers H, van Spronsen FJ. van Rijn M, et al. Among authors: de klerk jb, de valk hw, de koning tj. J Am Diet Assoc. 2008 Oct;108(10):1704-7. doi: 10.1016/j.jada.2008.07.008. J Am Diet Assoc. 2008. PMID: 18926138
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres.
Zwickler T, Lindner M, Aydin HI, Baumgartner MR, Bodamer OA, Burlina AB, Das AM, DeKlerk JB, Gökcay G, Grünewald S, Guffon N, Maier EM, Morava E, Geb S, Schwahn B, Walter JH, Wendel U, Wijburg FA, Müller E, Kölker S, Hörster F. Zwickler T, et al. J Inherit Metab Dis. 2008 Jun;31(3):361-7. doi: 10.1007/s10545-008-0804-2. Epub 2008 May 27. J Inherit Metab Dis. 2008. PMID: 18563634
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
Willemsen MA, Verbeek MM, Kamsteeg EJ, de Rijk-van Andel JF, Aeby A, Blau N, Burlina A, Donati MA, Geurtz B, Grattan-Smith PJ, Haeussler M, Hoffmann GF, Jung H, de Klerk JB, van der Knaap MS, Kok F, Leuzzi V, de Lonlay P, Megarbane A, Monaghan H, Renier WO, Rondot P, Ryan MM, Seeger J, Smeitink JA, Steenbergen-Spanjers GC, Wassmer E, Weschke B, Wijburg FA, Wilcken B, Zafeiriou DI, Wevers RA. Willemsen MA, et al. Among authors: de klerk jb. Brain. 2010 Jun;133(Pt 6):1810-22. doi: 10.1093/brain/awq087. Epub 2010 Apr 29. Brain. 2010. PMID: 20430833 Free article.
74 results