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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2.
Brain. 2010.
PMID: 20129935
Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency.
de Koning TJ, Nikkels PG, Dorland L, Bekhof J, De Schrijver JE, van Hattum J, van Diggelen OP, Duran M, Berger R, Poll-The BT.
de Koning TJ, et al. Among authors: bekhof j.
Virchows Arch. 2000 Jul;437(1):101-5. doi: 10.1007/s004280000185.
Virchows Arch. 2000.
PMID: 10963387
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Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.
Spaapen LJ, Bakker JA, Velter C, Loots W, Rubio-Gozalbo ME, Forget PP, Dorland L, De Koning TJ, Poll-The BT, Ploos van Amstel HK, Bekhof J, Blau N, Duran M.
Spaapen LJ, et al. Among authors: bekhof j.
J Inherit Metab Dis. 2001 Jun;24(3):352-8. doi: 10.1023/a:1010596317296.
J Inherit Metab Dis. 2001.
PMID: 11486900
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Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes.
van Rijt WJ, Koolhaas GD, Bekhof J, Heiner Fokkema MR, de Koning TJ, Visser G, Schielen PC, van Spronsen FJ, Derks TG.
van Rijt WJ, et al. Among authors: bekhof j.
Neonatology. 2016;109(4):297-302. doi: 10.1159/000443874. Epub 2016 Feb 24.
Neonatology. 2016.
PMID: 26907928
Free article.
Review.
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Behavioural factors related to metabolic control in patients with phenylketonuria.
Crone MR, van Spronsen FJ, Oudshoorn K, Bekhof J, van Rijn G, Verkerk PH.
Crone MR, et al. Among authors: bekhof j.
J Inherit Metab Dis. 2005;28(5):627-37. doi: 10.1007/s10545-005-0014-0.
J Inherit Metab Dis. 2005.
PMID: 16151893
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Clinical signs to identify late-onset sepsis in preterm infants.
Bekhof J, Reitsma JB, Kok JH, Van Straaten IH.
Bekhof J, et al.
Eur J Pediatr. 2013 Apr;172(4):501-8. doi: 10.1007/s00431-012-1910-6. Epub 2012 Dec 28.
Eur J Pediatr. 2013.
PMID: 23271492
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Influence of knowledge of the disease on metabolic control in phenylketonuria.
Bekhof J, van Spronsen FJ, Crone MR, van Rijn M, Oudshoorn CG, Verkerk PH.
Bekhof J, et al.
Eur J Pediatr. 2003 Jun;162(6):440-2. doi: 10.1007/s00431-003-1197-8. Epub 2003 Apr 8.
Eur J Pediatr. 2003.
PMID: 12684903
No abstract available.
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Phenylketonuria: tyrosine supplementation in phenylalanine-restricted diets.
van Spronsen FJ, van Rijn M, Bekhof J, Koch R, Smit PG.
van Spronsen FJ, et al. Among authors: bekhof j.
Am J Clin Nutr. 2001 Feb;73(2):153-7. doi: 10.1093/ajcn/73.2.153.
Am J Clin Nutr. 2001.
PMID: 11157309
Review.
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A different approach to breast-feeding of the infant with phenylketonuria.
van Rijn M, Bekhof J, Dijkstra T, Smit PG, Moddermam P, van Spronsen FJ.
van Rijn M, et al. Among authors: bekhof j.
Eur J Pediatr. 2003 May;162(5):323-6. doi: 10.1007/s00431-003-1182-2. Epub 2003 Mar 4.
Eur J Pediatr. 2003.
PMID: 12692713
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Plasma phenylalanine in patients with phenylketonuria self-managing their diet.
Bekhof J, van Rijn M, Sauer PJ, Ten Vergert EM, Reijngoud DJ, van Spronsen FJ.
Bekhof J, et al.
Arch Dis Child. 2005 Feb;90(2):163-4. doi: 10.1136/adc.2003.040451.
Arch Dis Child. 2005.
PMID: 15665170
Free PMC article.
No abstract available.
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