Francjan van Spronsen

Francjan van Spronsen

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Francjan van Spronsen

Publications by authors named "Francjan van Spronsen"

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A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.

J Inherit Metab Dis 2019 Sep 16;42(5):890-897. Epub 2019 May 16.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12102
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http://dx.doi.org/10.1002/jimd.12102DOI Listing
September 2019

Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines.

J Med Genet 2019 Sep 4. Epub 2019 Sep 4.

Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center of Groningen, University of Groningen, Groningen, Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2019-106278DOI Listing
September 2019

The first European guidelines on phenylketonuria: its usefulness and implications for BH responsiveness testing.

J Inherit Metab Dis 2019 Sep 10. Epub 2019 Sep 10.

University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Division of Metabolic Diseases, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12173DOI Listing
September 2019

Response to the Letter to the Editor Regarding "Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria".

Ann Nutr Metab 2018 16;72(1):80-81. Epub 2018 Jan 16.

Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1159/000486185DOI Listing
August 2019

Changes in pediatric plasma acylcarnitines upon fasting for refined interpretation of metabolic stress.

Mol Genet Metab 2019 Aug 28;127(4):327-335. Epub 2019 Jun 28.

University of Groningen, University Medical Center Groningen, Laboratory of Metabolic Diseases, Department of Laboratory Medicine, Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.06.007DOI Listing
August 2019

Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach.

J Inherit Metab Dis 2019 Aug 1. Epub 2019 Aug 1.

Division of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12151DOI Listing
August 2019

Biomarkers of Micronutrients in Regular Follow-Up for Tyrosinemia Type 1 and Phenylketonuria Patients.

Nutrients 2019 Aug 27;11(9). Epub 2019 Aug 27.

Division of Metabolic Diseases, Groningen, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.

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http://dx.doi.org/10.3390/nu11092011DOI Listing
August 2019

Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in phenylketonuria.

Nutr Res Rev 2019 Jun 4;32(1):70-78. Epub 2018 Oct 4.

7Division of Metabolic Diseases,Beatrix Children's Hospital,University Medical Center Groningen,University of Groningen,Groningen,the Netherlands.

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https://www.cambridge.org/core/product/identifier/S095442241
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http://dx.doi.org/10.1017/S0954422418000173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6536823PMC
June 2019

Hippocampal microglia modifications in C57Bl/6 Pah and BTBR Pah phenylketonuria (PKU) mice depend on the genetic background, irrespective of disturbed sleep patterns.

Neurobiol Learn Mem 2019 04 14;160:139-143. Epub 2018 May 14.

Groningen Institute for Evolutionary Life Sciences (GELIFES), Molecular Neurobiology, University of Groningen, Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.nlm.2018.05.002DOI Listing
April 2019

The neurological and psychological phenotype of adult patients with early-treated phenylketonuria: A systematic review.

J Inherit Metab Dis 2019 Mar;42(2):209-219

Division of Inborn Metabolic Diseases, Department of Paediatrics, University Hospital, Padua, Italy.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12065
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http://dx.doi.org/10.1002/jimd.12065DOI Listing
March 2019

A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring.

J Inherit Metab Dis 2018 11 29;41(6):929-936. Epub 2018 Mar 29.

Section of Metabolic Diseases, Beatrix Children's Hospital University Medical Center Groningen, University of Groningen, PO Box 30 001, 9700 RB, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-018-0167-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326981PMC
November 2018

Anthropomorphic measurements and nutritional biomarkers after 5 years of BH treatment in phenylketonuria patients.

Mol Genet Metab 2018 08 20;124(4):238-242. Epub 2018 Jun 20.

University of Groningen, University Medical Center Groningen, Division of Metabolic Diseases, PO box 30.001, 9700 RB Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.06.009DOI Listing
August 2018

Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.

J Inherit Metab Dis 2018 07 11;41(4):641-646. Epub 2017 Sep 11.

Department of Neurology, Canisius Wilhelmina Hospital, PO Box 9015, 6500GS, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-017-0086-7DOI Listing
July 2018

Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI.

Eur J Paediatr Neurol 2018 May 28;22(3):536-540. Epub 2017 Nov 28.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.11.006DOI Listing
May 2018

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria.

Ann Nutr Metab 2017 24;70(2):111-121. Epub 2017 Mar 24.

Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1159/000465529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5516403PMC
March 2018

Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day.

J Inherit Metab Dis 2018 03 23;41(2):181-186. Epub 2017 Nov 23.

Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700 RB, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-017-0112-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5830494PMC
March 2018

Large neutral amino acid supplementation as an alternative to the phenylalanine-restricted diet in adults with phenylketonuria: evidence from adult Pah-enu2 mice.

J Nutr Biochem 2018 03 12;53:20-27. Epub 2017 Oct 12.

University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jnutbio.2017.09.020DOI Listing
March 2018

Liver Cancer in Tyrosinemia Type 1.

Adv Exp Med Biol 2017 ;959:101-109

Beatrix Children's Hospital, Division of Metabolic Diseases, University of Groningen, University Medical Center of Groningen, HPC CA33, Antwoordnummer 333, 9700 VB, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/978-3-319-55780-9_9DOI Listing
December 2017

Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients.

Adv Exp Med Biol 2017 ;959:111-122

Beatrix Children's Hospital, Division of Metabolic Diseases, University of Groningen, University Medical Center of Groningen, HPC CA33, Antwoordnummer 333, 9700 VB, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/978-3-319-55780-9_10DOI Listing
December 2017

Dietary Considerations in Tyrosinemia Type I.

Adv Exp Med Biol 2017 ;959:197-204

Department of Paediatrics, Hannover Medical School, Hannover, Germany.

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http://dx.doi.org/10.1007/978-3-319-55780-9_18DOI Listing
December 2017

Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes.

Neonatology 2016 24;109(4):297-302. Epub 2016 Feb 24.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1159/000443874DOI Listing
November 2017

Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.

Pediatr Nephrol 2017 05 11;32(5):733-741. Epub 2016 Jun 11.

Division of Paediatric Nephrology, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s00467-016-3399-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5368212PMC
May 2017

Sleep Disturbances in Phenylketonuria: An Explorative Study in Men and Mice.

Front Neurol 2017 26;8:167. Epub 2017 Apr 26.

Molecular Neurobiology, Groningen Institute for Evolutionary Life Sciences (GELIFES), University of Groningen, Groningen, Netherlands.

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http://dx.doi.org/10.3389/fneur.2017.00167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5405067PMC
April 2017

What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?

JIMD Rep 2017 25;36:49-57. Epub 2017 Jan 25.

Department of Pediatrics, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/8904_2016_37DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680281PMC
January 2017

Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency: a perinatal protocol for use before population neonatal screening test results become available.

Genet Med 2016 12 22;18(12):1322-1323. Epub 2016 Sep 22.

Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1038/gim.2016.149DOI Listing
December 2016

The Behavioral Consequence of Phenylketonuria in Mice Depends on the Genetic Background.

Front Behav Neurosci 2016 20;10:233. Epub 2016 Dec 20.

Molecular Neurobiology, Groningen Institute for Evolutionary Life Sciences, University of Groningen Groningen, Netherlands.

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http://dx.doi.org/10.3389/fnbeh.2016.00233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5167755PMC
December 2016

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

Eur J Hum Genet 2016 10 22;24(10):1424-9. Epub 2016 Jun 22.

Center for Lysosomal and Metabolic Diseases, Department of Paediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2016.65DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027693PMC
October 2016

Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients.

Eur J Pediatr 2016 Jul 31;175(7):1001-6. Epub 2016 May 31.

Department of Radiology, Amsterdam Medical Center, Room G1-213, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00431-016-2734-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908155PMC
July 2016

Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles.

JIMD Rep 2017 14;32:33-39. Epub 2016 Jun 14.

Department of Laboratory Medicine, Laboratory of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Room Y2.125, HPA EA60, 30.001, NL-9700 RB, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/8904_2016_564DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5362552PMC
June 2016

Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice.

JIMD Rep 2016 7;27:69-77. Epub 2015 Oct 7.

Department of Molecular Neurobiology, Groningen Institute for Evolutionary Life Sciences (GELIFES) - University of Groningen, Nijenborgh 7, 9747 AG, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/8904_2015_498DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580734PMC
May 2016

The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?

Orphanet J Rare Dis 2016 Jan 29;11:10. Epub 2016 Jan 29.

University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, PO box 30.001, CA33, 9700 RB, Groningen, The Netherlands.

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http://dx.doi.org/10.1186/s13023-016-0394-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731980PMC
January 2016

Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.

JIMD Rep 2016 3;28:41-47. Epub 2015 Nov 3.

Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 30 001, 9700 RB, Groningen, The Netherlands.

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http://link.springer.com/content/pdf/10.1007%2F8904_2015_511
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http://link.springer.com/10.1007/8904_2015_511
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059202PMC
http://dx.doi.org/10.1007/8904_2015_511DOI Listing
November 2015

Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: a semi-mechanistically-based, nonlinear mixed-effect modeling.

Mol Genet Metab 2015 Apr 7;114(4):564-9. Epub 2015 Feb 7.

Merck Institute for Pharmacometrics, Merck Serono S.A., EPFL Innovation Park - Building I, CH-1015 Lausanne, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.01.013DOI Listing
April 2015

Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

JIMD Rep 2015 26;18:117-24. Epub 2014 Sep 26.

Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/8904_2014_358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361924PMC
March 2015

Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?

Mol Genet Metab 2015 Mar 12;114(3):425-30. Epub 2014 Dec 12.

Department of Clinical Child and Adolescents Studies, Leiden Institute for Brain and Cognition, Leiden University, Leiden, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.12.302DOI Listing
March 2015

Hepatocellular carcinoma in tyrosinemia type 1 without clear increase of AFP.

Pediatrics 2015 Mar 9;135(3):e749-52. Epub 2015 Feb 9.

Sections of Metabolic Diseases, and

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http://dx.doi.org/10.1542/peds.2014-1913DOI Listing
March 2015

Phenylketonuria: brain phenylalanine concentrations relate inversely to cerebral protein synthesis.

J Cereb Blood Flow Metab 2015 Feb 29;35(2):200-5. Epub 2014 Oct 29.

1] Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands [2] Department of Digestive and Metabolic Diseases, Center for Liver, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1038/jcbfm.2014.183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4426736PMC
February 2015

BH4 treatment in BH4-responsive PKU patients: preliminary data on blood prolactin concentrations suggest increased cerebral dopamine concentrations.

Mol Genet Metab 2015 Jan 15;114(1):29-33. Epub 2014 Nov 15.

University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.11.009DOI Listing
January 2015

Management of adult patients with phenylketonuria: survey results from 24 countries.

Eur J Pediatr 2015 Jan 6;174(1):119-27. Epub 2014 Dec 6.

Kreiskliniken Reutlingen GmbH, School of Medicine, Outpatient Medical Centre, University of Tuebingen, Gammertingen, Germany,

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http://dx.doi.org/10.1007/s00431-014-2458-4DOI Listing
January 2015

Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases.

J Inherit Metab Dis 2014 Sep 1;37(5):753-62. Epub 2014 May 1.

Department of Pediatrics, Hôpital d'Enfants Brabois, CHU Nancy, Vandoeuvre les Nancy, France,

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http://dx.doi.org/10.1007/s10545-014-9716-5DOI Listing
September 2014

Early dietary treated patients with phenylketonuria can achieve normal growth and body composition.

Mol Genet Metab 2013 22;110 Suppl:S40-3. Epub 2013 Oct 22.

Center of Medical Genetics Jacinto de Magalhães, CHP, EPE, Porto, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.10.009DOI Listing
July 2014

Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study.

Mol Genet Metab 2013 22;110 Suppl:S57-61. Epub 2013 Oct 22.

Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.10.011DOI Listing
July 2014

Recombinant phenylalanine ammonia lyase in phenylketonuria.

Lancet 2014 Jul 14;384(9937):6-8. Epub 2014 Apr 14.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, Netherlands.

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http://dx.doi.org/10.1016/S0140-6736(13)62075-9DOI Listing
July 2014

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Mol Genet Metab 2014 Jun 6;112(2):87-122. Epub 2014 Mar 6.

The Young Face, Facial Plastic and Reconstructive Surgery, Cumming, GA 30041, USA. Electronic address:

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https://www.team-share.net/Phenylketonuria_Scientific_Review
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http://linkinghub.elsevier.com/retrieve/pii/S109671921400085
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http://dx.doi.org/10.1016/j.ymgme.2014.02.013DOI Listing
June 2014

Neurocognitive evidence for revision of treatment targets and guidelines for phenylketonuria.

J Pediatr 2014 Apr 30;164(4):895-899.e2. Epub 2014 Jan 30.

Division of Metabolic Diseases, University Medical Center Groningen, Beatrix Children's Hospital, University of Groningen, Groningen, The Netherlands.

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http://www.researchgate.net/profile/Rianne_Jahja/publication
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http://linkinghub.elsevier.com/retrieve/pii/S002234761301561
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http://dx.doi.org/10.1016/j.jpeds.2013.12.015DOI Listing
April 2014

Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinone.

J Pediatr 2014 Feb 14;164(2):398-401. Epub 2013 Nov 14.

Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2013.10.001DOI Listing
February 2014

Single amino acid supplementation in aminoacidopathies: a systematic review.

Orphanet J Rare Dis 2014 Jan 13;9. Epub 2014 Jan 13.

Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1186/1750-1172-9-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895659PMC
January 2014

Phenylketonuria: reduced tyrosine brain influx relates to reduced cerebral protein synthesis.

Orphanet J Rare Dis 2013 Sep 4;8:133. Epub 2013 Sep 4.

Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1186/1750-1172-8-133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3847152PMC
September 2013

Dietary treatment of glycogen storage disease type Ia: uncooked cornstarch and/or continuous nocturnal gastric drip-feeding?

Mol Genet Metab 2013 May 15;109(1):1-2. Epub 2013 Feb 15.

Beatrix Children's Hospital, Section of Metabolic Diseases, University of Groningen, University Medical Center Groningen, PO Box 30 001, 9700 RB, Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2013.02.005DOI Listing
May 2013

The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy.

JIMD Rep 2012 25;5:127-30. Epub 2011 Dec 25.

Department of Pediatrics, Academic Medical Center (H7-270), University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/8904_2011_115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509918PMC
February 2013

Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP.

Pediatrics 2012 Oct 17;130(4):e1005-10. Epub 2012 Sep 17.

Division of Metabolic Diseases, Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2011-3330DOI Listing
October 2012

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.

J Med Genet 2012 May;49(5):307-13

Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2012-100778DOI Listing
May 2012

Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patients.

Mol Genet Metab 2012 Apr 16;105(4):566-70. Epub 2012 Jan 16.

Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2012.01.006DOI Listing
April 2012

Diurnal variations in blood phenylalanine of PKU infants under different feeding regimes.

Mol Genet Metab 2011 16;104 Suppl:S68-72. Epub 2011 Aug 16.

Department of Pediatrics, Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center of Groningen, University of Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2011.08.010DOI Listing
March 2012

Adult patients with well-controlled phenylketonuria tolerate incidental additional intake of phenylalanine.

Ann Nutr Metab 2011 8;58(2):94-100. Epub 2011 Apr 8.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre of Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1159/000324924DOI Listing
November 2011

PKU: high plasma phenylalanine concentrations are associated with increased prevalence of mood swings.

Mol Genet Metab 2011 Nov 2;104(3):231-4. Epub 2011 Jun 2.

Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Section of Metabolic Diseases, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2011.05.017DOI Listing
November 2011

Pre-attentive processing in children with early and continuously-treated PKU. Effects of concurrent Phe level and lifetime dietary control.

J Inherit Metab Dis 2011 Aug 4;34(4):953-62. Epub 2011 May 4.

Leiden Institute for Brain and Cognition, and Dept. of Clinical Child and Adolescent Studies, Faculty of Social Sciences, Leiden University, Wassenaarseweg 52, 2333, AK, Leiden, The Netherlands.

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http://dx.doi.org/10.1007/s10545-011-9321-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137776PMC
August 2011

Mild hyperphenylalaninemia: to treat or not to treat.

J Inherit Metab Dis 2011 Jun 24;34(3):651-6. Epub 2011 Feb 24.

Beatrix Children's Hospital, Groningen, Netherlands.

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http://dx.doi.org/10.1007/s10545-011-9283-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3183992PMC
June 2011

Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life.

J Inherit Metab Dis 2011 Apr 3;34(2):391-8. Epub 2011 Feb 3.

Department of Pediatrics (H7-270), Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-010-9267-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063540PMC
April 2011

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.

Eur J Hum Genet 2011 Mar 8;19(3):270-4. Epub 2010 Dec 8.

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2010.204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061993PMC
March 2011

Serum vitamin B12 concentrations within reference values do not exclude functional vitamin B12 deficiency in PKU patients of various ages.

Mol Genet Metab 2011 Jan 27;102(1):13-7. Epub 2010 Oct 27.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre of Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2010.07.004DOI Listing
January 2011

Large neutral amino acids in the treatment of PKU: from theory to practice.

J Inherit Metab Dis 2010 Dec 26;33(6):671-6. Epub 2010 Oct 26.

Department of Pediatrics, Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-010-9216-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2992655PMC
December 2010

Phenylketonuria.

Lancet 2010 Oct;376(9750):1417-27

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1684820/pdf/ajhg
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October 2010