Publications by authors named "Bwee Tien Poll-The"

101 Publications

Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.

J Inherit Metab Dis 2020 Dec 18. Epub 2020 Dec 18.

Department of Human Genetics and Pediatrics, Child Health and Human Development Program, McGill University, Research Institute of the McGill University Health Centre, Montreal, Québec, Canada.

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December 2020

Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia.

Neuropediatrics 2020 Oct 27. Epub 2020 Oct 27.

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

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October 2020

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Authors:
Félixe Pelletier Stefanie Perrier Ferdy K Cayami Amytice Mirchi Stephan Saikali Luan T Tran Nicole Ulrick Kether Guerrero Emmanouil Rampakakis Rosalina M L van Spaendonk Sakkubai Naidu Daniela Pohl William T Gibson Michelle Demos Cyril Goizet Ingrid Tejera-Martin Ana Potic Brent L Fogel Bernard Brais Michel Sylvain Guillaume Sébire Charles Marques Lourenço Joshua L Bonkowsky Coriene Catsman-Berrevoets Pedro S Pinto Sandya Tirupathi Petter Strømme Ton de Grauw Dorota Gieruszczak-Bialek Ingeborg Krägeloh-Mann Hanna Mierzewska Heike Philippi Julia Rankin Tahir Atik Brenda Banwell William S Benko Astrid Blaschek Annette Bley Eugen Boltshauser Drago Bratkovic Klara Brozova Icíar Cimas Christopher Clough Bernard Corenblum Argirios Dinopoulos Gail Dolan Flavio Faletra Raymond Fernandez Janice Fletcher Maria Eugenia Garcia Garcia Paolo Gasparini Janina Gburek-Augustat Dolores Gonzalez Moron Aline Hamati Inga Harting Christoph Hertzberg Alan Hill Grace M Hobson A Micheil Innes Marcelo Kauffman Susan M Kirwin Gerhard Kluger Petra Kolditz Urania Kotzaeridou Roberta La Piana Eriskay Liston William McClintock Meriel McEntagart Fiona McKenzie Serge Melançon Anjum Misbahuddin Mohnish Suri Fernando I Monton Sebastien Moutton Raymond P J Murphy Miriam Nickel Hüseyin Onay Simona Orcesi Ferda Özkınay Steffi Patzer Helio Pedro Sandra Pekic Mercedes Pineda Marfa Amy Pizzino Barbara Plecko Bwee Tien Poll-The Vera Popovic Dietz Rating Marie-France Rioux Norberto Rodriguez Espinosa Anne Ronan John R Ostergaard Elsa Rossignol Rocio Sanchez-Carpintero Anna Schossig Nesrin Senbil Laura K Sønderberg Roos Cathy A Stevens Matthis Synofzik László Sztriha Daniel Tibussek Dagmar Timmann Davide Tonduti Bart P van de Warrenburg Maria Vázquez-López Sunita Venkateswaran Pontus Wasling Evangeline Wassmer Richard I Webster Gert Wiegand Grace Yoon Joost Rotteveel Raphael Schiffmann Marjo S van der Knaap Adeline Vanderver Gabriel Á Martos-Moreno Constantin Polychronakos Nicole I Wolf Geneviève Bernard

J Clin Endocrinol Metab 2021 Jan;106(2):e660-e674

Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.

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January 2021

Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome.

Mol Genet Metab Rep 2020 Jun 28;23:100590. Epub 2020 Apr 28.

Department of Pediatrics, OLVG Hospital, Jan Tooropstraat 164 1061 AE, Amsterdam, the Netherlands.

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June 2020

Rhizomelic chondrodysplasia punctata morbidity and mortality, an update.

Am J Med Genet A 2020 03 25;182(3):579-583. Epub 2019 Nov 25.

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

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March 2020

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

Biochim Biophys Acta Mol Basis Dis 2019 10 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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October 2019

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

J Inherit Metab Dis 2019 09 30;42(5):955-965. Epub 2019 Jul 30.

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

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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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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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February 2019

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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June 2018

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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September 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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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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February 2018

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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July 2017

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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May 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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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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July 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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May 2017

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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September 2016

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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November 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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August 2016