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Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy.

J Neurol 2020 Mar 12;267(3):679-687. Epub 2019 Nov 12.

Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00415-019-09627-zDOI Listing
March 2020

Rhizomelic chondrodysplasia punctata morbidity and mortality, an update.

Am J Med Genet A 2020 Mar 25;182(3):579-583. Epub 2019 Nov 25.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

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http://dx.doi.org/10.1002/ajmg.a.61413DOI Listing
March 2020

Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder.

Biochim Biophys Acta Mol Basis Dis 2019 Oct 15;1865(10):2774-2787. Epub 2019 Jun 15.

Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology & Metabolism, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2019.06.013DOI Listing
October 2019

Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder.

J Inherit Metab Dis 2019 Sep 30;42(5):955-965. Epub 2019 Jul 30.

Department of Pathology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12132DOI Listing
September 2019

The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy.

J Inherit Metab Dis 2019 03 21;42(2):303-312. Epub 2019 Feb 21.

Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://doi.wiley.com/10.1002/jimd.12042
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http://dx.doi.org/10.1002/jimd.12042DOI Listing
March 2019

Disease progression in women with X-linked adrenoleukodystrophy is slow.

Orphanet J Rare Dis 2019 02 7;14(1):30. Epub 2019 Feb 7.

Department of Pediatric Neurology/Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13023-019-1008-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367840PMC
February 2019

A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia.

J Inherit Metab Dis 2018 09 20;41(5):897-898. Epub 2018 Feb 20.

Department of Pediatric Neurology, Academic Medical Center, University of Amsterdam, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-018-0151-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133186PMC
September 2018

What's new in pontocerebellar hypoplasia? An update on genes and subtypes.

Orphanet J Rare Dis 2018 06 15;13(1):92. Epub 2018 Jun 15.

Department of Pediatric Neurology, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13023-018-0826-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003036PMC
June 2018

Brain atrophy following hemiplegic migraine attacks.

Cephalalgia 2018 05 27;38(6):1199-1202. Epub 2017 Jul 27.

1 Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands.

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http://journals.sagepub.com/doi/10.1177/0333102417723569
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http://dx.doi.org/10.1177/0333102417723569DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5944084PMC
May 2018

Coagulopathy in Zellweger spectrum disorders: a role for vitamin K.

J Inherit Metab Dis 2018 03 14;41(2):249-255. Epub 2017 Nov 14.

Department of Pediatric Hematology, Erasmus MC Sophia Children's Hospital, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-017-0113-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5830475PMC
March 2018

Oral Cholic Acid in Zellweger Spectrum Disorders: A Word of Caution.

J Pediatr Gastroenterol Nutr 2018 02;66(2):e57

Department of Pediatric Gastroenterology, Emma Children's hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1097/MPG.0000000000001763DOI Listing
February 2018

Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders.

J Inherit Metab Dis 2017 11 4;40(6):875-881. Epub 2017 Jul 4.

Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-017-0064-0DOI Listing
November 2017

The structural connectome of children with traumatic brain injury.

Hum Brain Mapp 2017 Jul 21;38(7):3603-3614. Epub 2017 Apr 21.

Department of Physics and Medical Technology, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/hbm.23614DOI Listing
July 2017

Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.

JIMD Rep 2018 29;39:83-87. Epub 2017 Jul 29.

Department of Paediatric Neurology, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/8904_2017_48DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953898PMC
July 2017

Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders.

Mol Genet Metab Rep 2017 Jun 14;11:94. Epub 2016 Apr 14.

Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgmr.2016.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5470934PMC
June 2017

Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

Methods Mol Biol 2017 ;1595:329-342

Department Paediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands.

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http://dx.doi.org/10.1007/978-1-4939-6937-1_30DOI Listing
May 2017

"Role of peroxisomes in human lipid metabolism and its importance for neurological development".

Neurosci Lett 2017 01 18;637:11-17. Epub 2015 Jun 18.

Laboratory Genetic Metabolic Diseases, Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, 1105 AZ, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.neulet.2015.06.018DOI Listing
January 2017

A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.

Am J Med Genet A 2017 Jan 9;173(1):207-212. Epub 2016 Nov 9.

Department of Pediatric Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37962DOI Listing
January 2017

Cholic acid therapy in Zellweger spectrum disorders.

J Inherit Metab Dis 2016 11 28;39(6):859-868. Epub 2016 Jul 28.

Department of Pediatric Neurology, Emma Children's Hospital/Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-016-9962-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065608PMC
November 2016

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

JIMD Rep 2017 29;33:87-92. Epub 2016 Sep 29.

Department of Pediatric Neurology, Academic Medical Center, University of Amsterdam, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/8904_2016_584DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413457PMC
September 2016

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders.

Neuropediatrics 2016 Aug 18;47(4):205-20. Epub 2016 Apr 18.

Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1055/s-0036-1582140DOI Listing
August 2016

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.

Pediatr Neurol 2016 06 11;59:6-12. Epub 2016 Jan 11.

Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada; Treatable Intellectual Disability Endeavor in British Columbia (TIDE-BC), Vancouver, British Columbia, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.12.013DOI Listing
June 2016

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.

J Inherit Metab Dis 2016 Jan 19;39(1):93-106. Epub 2015 Aug 19.

Department of Paediatric Neurology, Emma Children's Hospital, Academic Medical Centre (AMC), University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-015-9880-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4710674PMC
January 2016

Zellweger spectrum disorders: clinical overview and management approach.

Orphanet J Rare Dis 2015 Dec 1;10:151. Epub 2015 Dec 1.

Department of Paediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, PO BOX 22660, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13023-015-0368-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666198PMC
December 2015

Pediatric Traumatic Brain Injury and Attention Deficit.

Pediatrics 2015 Sep 3;136(3):534-41. Epub 2015 Aug 3.

Department of Clinical Neuropsychology, VU University Amsterdam, Amsterdam, Netherlands; Emma Children's Hospital Academic Medical Centre, Amsterdam. Netherlands.

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http://pediatrics.aappublications.org/content/pediatrics/136
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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.2015-0437DOI Listing
September 2015

Clinical utility gene card for: Zellweger syndrome spectrum.

Eur J Hum Genet 2015 Aug 19;23(8). Epub 2014 Nov 19.

Department of Paediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen, Georg August University, Göttingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795113PMC
August 2015

Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study.

J Inherit Metab Dis 2015 Mar 9;38(2):359-61. Epub 2014 Dec 9.

Department of Neurology, Medical Center Alkmaar, Alkmaar, The Netherlands.

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http://dx.doi.org/10.1007/s10545-014-9797-1DOI Listing
March 2015

Strokelike episodes and cutis marmorata telangiectatica congenita.

J Child Neurol 2015 Jan 13;30(1):129-32. Epub 2014 Feb 13.

Department of Pediatric Neurology, Academic Medical Center, Amsterdam, the Netherlands

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http://dx.doi.org/10.1177/0883073813516675DOI Listing
January 2015

X-linked adrenoleukodystrophy: pathogenesis and treatment.

Curr Neurol Neurosci Rep 2014 Oct;14(10):486

Department of Pediatric Neurology/Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, 1100 DD, The Netherlands,

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http://link.springer.com/10.1007/s11910-014-0486-0
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http://dx.doi.org/10.1007/s11910-014-0486-0DOI Listing
October 2014

High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.

Orphanet J Rare Dis 2014 Sep 2;9:133. Epub 2014 Sep 2.

Department of Paediatric Neurology, Emma Children's Hospital/Academic Medical Centre, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands.

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http://dx.doi.org/10.1186/s13023-014-0133-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4164755PMC
September 2014

Ectopic peripontine arcuate fibres, a novel finding in pontine tegmental cap dysplasia.

Eur J Paediatr Neurol 2014 May 11;18(3):434-8. Epub 2014 Jan 11.

Department of Pediatric Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2013.12.007DOI Listing
May 2014

Diagnostic work-up in acute conditions of inborn errors of metabolism and storage diseases.

Handb Clin Neurol 2013 ;113:1553-62

Reference Center for Inherited Metabolic Disease of Children and Adults, Hôpital Universitaire Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00025-3DOI Listing
March 2014

Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.

Mol Genet Metab 2014 Mar 26;111(3):404-407. Epub 2013 Sep 26.

Department of Pediatric Neurology, Clinical Genetics, Metabolic Disorders, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.09.014DOI Listing
March 2014

Neurologic abnormalities in HIV-1 infected children in the era of combination antiretroviral therapy.

PLoS One 2013 15;8(5):e64398. Epub 2013 May 15.

Department of Pediatric Hematology, Immunology and Infectious Diseases, Emma Children's Hospital, Academic Medical Centre (AMC), Amsterdam, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0064398PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3654960PMC
January 2014

S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation.

J Inherit Metab Dis 2013 Nov 8;36(6):967-72. Epub 2013 Feb 8.

Department of Pediatric Neurology, Academic Medical Center, PO Box 22660, 1000 AZ, Amsterdam, The Netherlands,

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http://dx.doi.org/10.1007/s10545-013-9590-6DOI Listing
November 2013

Comment on the paper "Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit".

Clin Neurol Neurosurg 2013 Nov 22;115(11):2401-2. Epub 2013 Aug 22.

Department of Pediatric Neurology, Academic Medical Center, Amsterdam, The Netherlands; Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.clineuro.2013.07.040DOI Listing
November 2013

The neurology of rhizomelic chondrodysplasia punctata.

Orphanet J Rare Dis 2013 Oct 30;8:174. Epub 2013 Oct 30.

Department of Pediatric Neurology/Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/1750-1172-8-174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228450PMC
October 2013

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.

Orphanet J Rare Dis 2013 Sep 9;8:138. Epub 2013 Sep 9.

Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University Hospital of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/1750-1172-8-138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3844471PMC
September 2013

Rhizomelic chondrodysplasia punctata and cardiac pathology.

J Med Genet 2013 Jul 9;50(7):419-24. Epub 2013 Apr 9.

Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Centre, PO Box 2260, Amsterdam 1100 DD, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2013-101536DOI Listing
July 2013

Bezafibrate for X-linked adrenoleukodystrophy.

PLoS One 2012 20;7(7):e41013. Epub 2012 Jul 20.

Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0041013PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3401223PMC
April 2013

Genetic basis of hyperlysinemia.

Orphanet J Rare Dis 2013 Apr 9;8:57. Epub 2013 Apr 9.

Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam, AZ 1105, The Netherlands.

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http://dx.doi.org/10.1186/1750-1172-8-57DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626681PMC
April 2013

Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation.

J Inherit Metab Dis 2012 Nov 24;35(6):1137-45. Epub 2012 Mar 24.

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

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http://dx.doi.org/10.1007/s10545-012-9471-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3470694PMC
November 2012

Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders.

Biochim Biophys Acta 2012 Sep 28;1822(9):1421-9. Epub 2012 Mar 28.

Department of Pediatric Neurology and Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2012.03.011DOI Listing
September 2012

Respiratory disturbances in rett syndrome: don't forget to evaluate upper airway obstruction.

J Child Neurol 2012 Jul 30;27(7):888-92. Epub 2012 Jan 30.

Department of Pediatric Neurology AMC, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1177/0883073811429859DOI Listing
July 2012

Folinic acid supplementation in Rett syndrome patients does not influence the course of the disease: a randomized study.

J Child Neurol 2012 Mar 24;27(3):304-9. Epub 2011 Aug 24.

Academic Medical Center, Department of Pediatric Neurology, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1177/0883073811417184DOI Listing
March 2012

Peroxisomal leukoencephalopathy.

Semin Neurol 2012 Feb 15;32(1):42-50. Epub 2012 Mar 15.

Department of Pediatric Neurology/Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1055/s-0032-1306385DOI Listing
February 2012

[A neonate with developmental retardation].

Ned Tijdschr Geneeskd 2011 ;155:A1561

Meander Medisch Centrum, Amersfoort, the Netherlands.

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September 2011

Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid.

J Neurol Neurosurg Psychiatry 2011 Aug 15;82(8):850-2. Epub 2010 Jun 15.

Rudolf Magnus Institute of Neuroscience, Department of Neurology, University Medical Centre Utrecht, The Netherlands.

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http://dx.doi.org/10.1136/jnnp.2009.200253DOI Listing
August 2011

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.

Orphanet J Rare Dis 2011 Jul 12;6:50. Epub 2011 Jul 12.

Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-6-5
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http://dx.doi.org/10.1186/1750-1172-6-50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159098PMC
July 2011

TSEN54 mutations cause pontocerebellar hypoplasia type 5.

Eur J Hum Genet 2011 Jun 2;19(6):724-6. Epub 2011 Feb 2.

Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2011.8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110057PMC
June 2011

Clinical and electroencephalographic effects of folinic acid treatment in Rett syndrome patients.

J Child Neurol 2011 Jun 22;26(6):718-23. Epub 2011 Mar 22.

Academical Medical Center, Department of Paediatric Neurology, Amsterdam, the Netherlands.

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http://journals.sagepub.com/doi/10.1177/0883073810390037
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http://dx.doi.org/10.1177/0883073810390037DOI Listing
June 2011

Is hearing loss a feature of Joubert syndrome, a ciliopathy?

Int J Pediatr Otorhinolaryngol 2010 Sep 29;74(9):1034-8. Epub 2010 Jun 29.

Dept. of Medical Genetics, University Medical Center Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.ijporl.2010.05.034DOI Listing
September 2010

The enigmatic role of tafazzin in cardiolipin metabolism.

Biochim Biophys Acta 2009 Oct 18;1788(10):2003-14. Epub 2009 Jul 18.

University of Amsterdam, Academic Medical Center, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbamem.2009.07.009DOI Listing
October 2009

Ataxia with loss of Purkinje cells in a mouse model for Refsum disease.

Proc Natl Acad Sci U S A 2008 Nov 11;105(46):17712-7. Epub 2008 Nov 11.

Academic Medical Center, Department of Clinical Chemistry (Laboratory of Genetic Metabolic Diseases), Emma's Children Hospital, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1073/pnas.0806066105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2584743PMC
November 2008

Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature.

Am J Med Genet A 2008 Mar;146A(6):740-4

Department of Pediatric Genetics, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.32233DOI Listing
March 2008

Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2).

Neuromuscul Disord 2008 Jan 6;18(1):52-8. Epub 2007 Sep 6.

Department of Paediatric Neurology, Room # G8-211, Emma Children's Hospital/Academic Medical Centre, University of Amsterdam, PO Box 22660, 1100 DD Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.nmd.2007.08.001DOI Listing
January 2008

Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance.

Brain 2007 Sep 9;130(Pt 9):2258-66. Epub 2007 Aug 9.

Department of Pediatric Neurology, Emma Children's Hospital/AMC, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1093/brain/awm188DOI Listing
September 2007

Severe neurological complications in skeletal dysplasias: two case reports.

Eur J Paediatr Neurol 2006 Sep-Nov;10(5-6):241-3. Epub 2006 Oct 10.

Department of Paediatric Neurology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ejpn.2006.08.004DOI Listing
February 2007

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

Mol Genet Metab 2006 Sep-Oct;89(1-2):116-20. Epub 2006 May 2.

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

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http://dx.doi.org/10.1016/j.ymgme.2006.03.010DOI Listing
October 2006

A vertebro-vertebral fistula as a complication of a jugular line.

J Pediatr 2006 Oct;149(4):576

Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.jpeds.2006.06.049DOI Listing
October 2006

High incidence of hyperoxaluria in generalized peroxisomal disorders.

Mol Genet Metab 2006 Aug 18;88(4):346-50. Epub 2006 Apr 18.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2006.03.004DOI Listing
August 2006

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

Ann Neurol 2006 Jan;59(1):92-104

Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, University of Amsterdam, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.

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http://dx.doi.org/10.1002/ana.20702DOI Listing
January 2006

Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IA.

J Pediatr 2006 Jan;148(1):115-7

Division of Pediatric Neurology, Department of Pediatrics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.jpeds.2005.08.048DOI Listing
January 2006

Biochemical markers predicting survival in peroxisome biogenesis disorders.

Adv Exp Med Biol 2003 ;544:67-8

Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/978-1-4419-9072-3_8DOI Listing
July 2004

Phytanic and pristanic acid are naturally occuring ligands.

Adv Exp Med Biol 2003 ;544:247-54

Department of Pediatric/Child Neurology (Emma Children's Hospital), Academic Medical Center, University of Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/978-1-4419-9072-3_32DOI Listing
July 2004

Neonatal citrullinemia: comparison of conventional MR, diffusion-weighted, and diffusion tensor findings.

AJNR Am J Neuroradiol 2004 Jan;25(1):32-5

Department of Radiology, Academic Medical Center, Amsterdam, the Netherlands.

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January 2004

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.

Pediatrics 2003 Aug;112(2):332-40

Divison of Metabolic Diseases and Genetics, Department of Pediatrics, Erasmus Medical Center/Sophia Children's Hospital, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1542/peds.112.2.332DOI Listing
August 2003

L-serine in disease and development.

Biochem J 2003 May;371(Pt 3):653-61

Department of Pediatric Metabolic Diseases, University Medical Centre Utrecht, KC 03.063.0, P.O. Box 85090, 3508 AB Utrecht, The Netherlands.

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http://dx.doi.org/10.1042/BJ20021785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1223326PMC
May 2003

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.

Am J Hum Genet 2003 May 14;72(5):1300-7. Epub 2003 Apr 14.

Department of Clinical Chemistry, Academic Medical Center, Emma Children's Hospital, University of Amsterdam, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180283PMC
http://dx.doi.org/10.1086/375116DOI Listing
May 2003

Mitochondrial encephalomyopathy: comparison of conventional MR imaging with diffusion-weighted and diffusion tensor imaging: case report.

AJNR Am J Neuroradiol 2002 May;23(5):813-6

Department of Radiology, Academic Medical Center, Amsterdam, The Netherlands.

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May 2002