Zobrazeno 1 - 10 of 67 pro vyhledávání: '"François Eyskens"'
1
Akademický článek
A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry
Autor: Amber Van Baelen, Laurence Roosens, Sylvie Devos, Stijn Verhulst, François Eyskens
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 100993- (2023)
Background: Gaucher's and Fabry's disease are two of the most common treatable lysosomal storage diseases, and have a wide spectrum of clinical symptoms. Early detection is important, because timely initiation of treatments can improve the disease st
Externí odkaz: https://doaj.org/article/8b35a048a05b4ff2be7d1d374afb5992
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2
Akademický článek
Severe dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type II
Autor: Margot Eyskens, Luc Bruyndonckx, André B. P. Van Kuilenburg, François Eyskens
Publikováno v: JIMD Reports, Vol 64, Iss 2, Pp 156-160 (2023)
Abstract We report a unique case of an infant with a severe dilated cardiomyopathy as the clinical presentation of sialidosis type II (OMIM 256550), a rare autosomal recessive inherited lysosomal storage disease that is characterized by partial or co
Externí odkaz: https://doaj.org/article/a0a54efbb8de4179bd4ad9a5613b7b6c
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3
Akademický článek
What Mothers Know about Newborn Bloodspot Screening and the Sources They Use to Acquire This Knowledge: A Pilot Study in Flanders
Autor: Caroline di Gangi, Maren Hermans, Maissa Rayyan, François Eyskens, Karel Allegaert
Publikováno v: Children, Vol 10, Iss 9, p 1567 (2023)
To learn what mothers know about newborn bloodspot screening (NBS), the procedure, and the sources used, a pilot study was performed. An online questionnaire was developed, with the first part focused on characteristics and the NBS procedure, and the
Externí odkaz: https://doaj.org/article/55bdd33014ec4cba8c2c5c20fdbfe2a4
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4
Akademický článek
Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at
Autor: Ania C. Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Vincenzo Leuzzi, Hatice Serap Sivri, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelia S. Lotz-Havla, Paul Lane, Ignacio Alvarez, Frank Rutsch
Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Abstract Background During the initial 26-week SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) study, addition of sapropterin dihydrochloride (Kuvan®; a synthetic formulation of the natural cofactor for phenylalanine hydroxylase, tet
Externí odkaz: https://doaj.org/article/63fd4568c46247219b22665cafdc58b9
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6
Akademický článek
Vertebral Tongue-Like Deformity in Mucopolysaccharidosis VI
Autor: Michiel Landen, François Eyskens, Filip Vanhoenacker
Publikováno v: Journal of the Belgian Society of Radiology, Vol 105, Iss 1 (2021)
Teaching point: Defective development of the anterior portion of the vertebral body at the thoracolumbar junction may be an important imaging clue in the diagnosis of mucopolysaccharidosis.
Externí odkaz: https://doaj.org/article/94073ce8b07946bfaab330934c2514ff
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7
Akademický článek
Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age
Autor: Lothar Hauth, Jeroen Kerstens, Laetitia Yperzeele, François Eyskens, Paul M. Parizel, Barbara Willekens
Publikováno v: Frontiers in Neurology, Vol 9 (2018)
IntroductionA 16-year-old male presented with episodic headaches and a brain magnetic resonance imaging (MRI) that showed multifocal punctate to patchy white matter lesions. The diagnosis of Fabry disease (FD) was suggested upon the finding of signif
Externí odkaz: https://doaj.org/article/6d61bdae1a6f497a824fb94037491e2a
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8
Akademický článek
Carnitine Deficiency and Pregnancy
Autor: Anouk de Bruyn, Yves Jacquemyn, Kristof Kinget, François Eyskens
Publikováno v: Case Reports in Obstetrics and Gynecology, Vol 2015 (2015)
We present two cases of carnitine deficiency in pregnancy. In our first case, systematic screening revealed L-carnitine deficiency in the first born of an asymptomatic mother. In the course of her second pregnancy, maternal carnitine levels showed a
Externí odkaz: https://doaj.org/article/0870b9481cac427b9e03e816aec97d3d
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9
Akademický článek
Neonatal thyroid-stimulating hormone concentrations in Belgium: a useful indicator for detecting mild iodine deficiency?
Autor: Stefanie Vandevijvere, Wim Coucke, Jean Vanderpas, Caroline Trumpff, Maarten Fauvart, Ann Meulemans, Sandrine Marie, Marie-Françoise Vincent, Roland Schoos, François Boemer, Timothy Vanwynsberghe, Eddy Philips, François Eyskens, Brigitte Wuyts, Valbona Selimaj, Bart Van Overmeire, Christine Kirkpatrick, Herman Van Oyen, Rodrigo Moreno-Reyes
Publikováno v: PLoS ONE, Vol 7, Iss 10, p e47770 (2012)
It has been proposed that neonatal thyroid-stimulating hormone (TSH) concentrations are a good indicator of iodine deficiency in the population. A frequency of neonatal TSH concentrations above 5 mU/L below 3% has been proposed as the threshold indic
Externí odkaz: https://doaj.org/article/0afcf7c5986f4666bf26c0bfb35da2e4
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10
Dietary practices in methylmalonic acidaemia: a European survey
Autor: Rachel Skeath, Annemiek M. J. van Wegberg, Kit Kaalund Hansen, Isidro Vitoria, Sandrine Dubois, Júlio César Rocha, Helle Vestergaard, Alice Dianin, François Feillet, Giorgia Gallo, Karen Corthouts, Sandrine Le Verge, Camille Jankowski, Anita MacDonald, Kathleen Ross, Irene Kok, Sandra Bollhalder, Linn Helene Stolen, Heidi Chan, F.J. White, Agnieszka Kowalik, Alison Tooke, David Cassiman, Foekje de Boer, Amaya Belanger-Quintana, Ana Faria, Hazel Rogozinski, Lucy White, Marleen van Driessche, Alex Pinto, Heidi Zweers, M.F. Almeida, R. Lilje, Gudrun Elise Kahrs, Margreet van Rijn, Carla Vasconcelos, C. Timmer, Lyndsey Tomlinson, Cornelia Maddalon, A. Terry, Kristel Vande Kerckhove, Esther van Dam, Ilana Jones, Elisabeth Sjoqvist, U. Meyer, Liesbeth van der Ploeg, Ulrike Och, Marjorie Dixon, Ilaria Fasan, Diana Webster, Dorine T.A.M. van den Hurk, Joanna Gribben, Helena Champion, Catherine Jouault, Kath Singleton, Katharina Dokoupil, Anne Daly, Jaime Dalmau, Elisabeth Favre, Doris Mayr, Silvia Maria Bernabei, An de Meyer, François Eyskens, A. Liguori, Catherine Laguerre, Nienke Ter Horst, Carmen Rohde, Sharon Evans, An Desloovere, Corinne De Laet, Andrea Schlune, Martine Robert, M. Assoun, Anna Fekete, Isabelle Saruggia, Cerys Gingell, Renske Janssen-Regelink, A. Micciche
Publikováno v: Journal of Pediatric Endocrinology & Metabolism, 33, 147-155
Journal of Pediatric Endocrinology & Metabolism, 33, 1, pp. 147-155
Journal of pediatric endocrinology and metabolism
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Journal of pediatric endocrinology & metabolism, 33(1), 147-155. Walter de Gruyter GmbH
Journal of Pediatric Endocrinology & Metabolism, 33(1), 147-155. De Gruyter
Background The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecda01fc69de777edfdb2c12a7795396
https://doi.org/10.1515/jpem-2019-0277
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