Francois Eyskens

Placental Findings in Lysosomal Storage Disease Diagnosis: A Case Report of Galactosialidosis.

Authors:

Sasha Libbrecht Francois Eyskens Sabine Declercq Cecile Colpaert

Case Rep Pathol 2020 30;2020:8181056. Epub 2020 May 30.

Department of Pathology, UZA, Wilrijkstraat 10, 2650 Edegem, Belgium.

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May 2020

Dietary practices in methylmalonic acidaemia: a European survey.

Authors:

Alex Pinto Sharon Evans Anne Daly Manuela Ferreira Almeida Murielle Assoun Amaya Belanger-Quintana Silvia Maria Bernabei Sandra Bollhalder David Cassiman Helena Champion Heidi Chan Karen Corthouts Jaime Dalmau Foekje de Boer Corinne De Laet An de Meyer An Desloovere Alice Dianin Marjorie Dixon Katharina Dokoupil Sandrine Dubois Francois Eyskens Ana Faria Ilaria Fasan Elisabeth Favre François Feillet Anna Fekete Giorgia Gallo Cerys Gingell Joanna Gribben Kit Kaalund Hansen Nienke Ter Horst Camille Jankowski Renske Janssen-Regelink Ilana Jones Catherine Jouault Gudrun Elise Kahrs Irene Kok Agnieszka Kowalik Catherine Laguerre Sandrine Le Verge Alessandra Liguori Rina Lilje Cornelia Maddalon Doris Mayr Uta Meyer Avril Micciche Ulrike Och Martine Robert Júlio César Rocha Hazel Rogozinski Carmen Rohde Kathleen Ross Isabelle Saruggia Andrea Schlune Kath Singleton Elisabeth Sjoqvist Rachel Skeath Linn Helene Stolen Allyson Terry Corrie Timmer Lyndsey Tomlinson Alison Tooke Kristel Vande Kerckhove Esther van Dam Dorine van den Hurk Liesbeth van der Ploeg Marleen van Driessche Margreet van Rijn Annemiek van Wegberg Carla Vasconcelos Helle Vestergaard Isidro Vitoria Diana Webster Fiona White Lucy White Heidi Zweers Anita MacDonald

J Pediatr Endocrinol Metab 2020 Jan;33(1):147-155

Birmingham Women's and Children's Hospital, Birmingham, UK.

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January 2020

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.

Orphanet J Rare Dis 2019 12 4;14(1):285. Epub 2019 Dec 4.

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

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December 2019

Recurrent acute coronary syndrome, polymorphic premature ventricular complexes and a son with a (mis)diagnosis of multiple sclerosis.

Authors:

Jeremy Nestele Carst van den Hoven Emeline M Van Craenenbroeck Francois Eyskens Bernard P Paelinck Amélie Dendooven Steven E Haine

Acta Cardiol 2020 Sep 16;75(5):467-468. Epub 2019 May 16.

Department of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.

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September 2020

Phase I/II Trial of Liver-derived Mesenchymal Stem Cells in Pediatric Liver-based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver-derived Progenitor Cells (HepaStem) in Urea Cycle Disorders and Crigler-Najjar Syndrome Patients.

Transplantation 2019 09;103(9):1903-1915

Department of Paediatrics, Paediatric Gastroenterology and Hepatology Unit, Cliniques Universitaires St Luc, Université Catholique de Louvain, Brussels, Belgium.

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September 2019

Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age.

Authors:

Lothar Hauth Jeroen Kerstens Laetitia Yperzeele François Eyskens Paul M Parizel Barbara Willekens

Front Neurol 2018 16;9:336. Epub 2018 May 16.

Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.

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May 2018

Raising Awareness of False Positive Newborn Screening Results Arising from Pivalate-Containing Creams and Antibiotics in Europe When Screening for Isovaleric Acidaemia.

Authors:

James R Bonham Rachel S Carling Martin Lindner Leifur Franzson Rolf Zetterstrom Francois Boemer Roberto Cerone Francois Eyskens Laura Vilarinho David M Hougaard Peter C J I Schielen

Int J Neonatal Screen 2018 Mar 10;4(1). Epub 2018 Feb 10.

Reference Laboratory for Neonatal Screening, Centre for Health Protection, National Institute for Public Health and the Environment (RIVM), 3720 BA Bilthoven, The Netherlands.

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March 2018

Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial.

Authors:

Ania C Muntau Alberto Burlina François Eyskens Peter Freisinger Corinne De Laet Vincenzo Leuzzi Frank Rutsch H Serap Sivri Suresh Vijay Milva Orquidea Bal Gwendolyn Gramer Renata Pazdírková Maureen Cleary Amelie S Lotz-Havla Alain Munafo Diane R Mould Flavie Moreau-Stucker Daniela Rogoff

Orphanet J Rare Dis 2017 03 9;12(1):47. Epub 2017 Mar 9.

EMD Serono, Billerica, MA, USA.

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March 2017

Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis.

Authors:

Britt van Erven Lindsey Welling Sandra C van Calcar Artemis Doulgeraki François Eyskens Joanna Gribben Eileen P Treacy Rein Vos Susan E Waisbren M Estela Rubio-Gozalbo Annet M Bosch

JIMD Rep 2017 20;35:87-96. Epub 2016 Dec 20.

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

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December 2016

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.

J Inherit Metab Dis 2017 03 17;40(2):171-176. Epub 2016 Nov 17.

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

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March 2017

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

J Med Genet 2017 04 10;54(4):288-296. Epub 2016 Nov 10.

Department of Medical Endocrinology, Rigshospital, Copenhagen University Hospital, Copenhagen, Denmark.

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April 2017

Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls.

Authors:

Willem G van Ginkel Rianne Jahja Stephan C J Huijbregts Anne Daly Anita MacDonald Corinne De Laet David Cassiman François Eyskens Irene M L W Körver-Keularts Philippe J Goyens Patrick J McKiernan Francjan J van Spronsen

Orphanet J Rare Dis 2016 06 29;11(1):87. Epub 2016 Jun 29.

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

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June 2016

Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review.

Authors:

Michele A Gatheridge Jennifer M Kwon Jerry M Mendell Günter Scheuerbrandt Stuart J Moat François Eyskens Cheryl Rockman-Greenberg Anthi Drousiotou Robert C Griggs

JAMA Neurol 2016 Jan;73(1):111-6

Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York.

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January 2016

Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase.

Authors:

David G Warnock Daniel G Bichet Myrl Holida Ozlem Goker-Alpan Kathy Nicholls Mark Thomas Francois Eyskens Suma Shankar Mathews Adera Sheela Sitaraman Richie Khanna John J Flanagan Brandon A Wustman Jay Barth Carrolee Barlow Kenneth J Valenzano David J Lockhart Pol Boudes Franklin K Johnson

PLoS One 2015 7;10(8):e0134341. Epub 2015 Aug 7.

Amicus Therapeutics, Cranbury, New Jersey, United States of America.

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May 2016

Carnitine Deficiency and Pregnancy.

Authors:

Anouk de Bruyn Yves Jacquemyn Kristof Kinget François Eyskens

Case Rep Obstet Gynecol 2015 28;2015:101468. Epub 2015 May 28.

Department of Metabolic Disorders in Children, Antwerp University Hospital UZA, 2650 Edegem, Belgium ; Center of Inherited Metabolic Diseases, Metabolic Lab PCMA, 2610 Wilrijk, Belgium.

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June 2015