Zobrazeno 1 - 10
of 82
pro vyhledávání: '"Mirjam Langeveld"'
Autor:
Bregje Jaeger, Mirjam Langeveld, Robert Brunkhorst, Felix Distelmaier, Ana Pop, Nicole I. Wolf, Annet M. Bosch
Publikováno v:
JIMD Reports, Vol 65, Iss 4, Pp 233-238 (2024)
Abstract Riboflavin transporter deficiency (RTD) is a genetic disorder of reduced riboflavin (vitamin B2) uptake that causes progressive, multifocal neurological dysfunction. Most patients present in early childhood; if patients present later in life
Externí odkaz:
https://doaj.org/article/fed9c733ea2a4ea1b33d7351da7e181c
Autor:
Lieke M. van den Heuvel, Adriana Kater-Kuipers, Tessa van Dijk, Loek L. Crefcoeur, Gepke Visser, Mirjam Langeveld, Lidewij Henneman
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background Primary carnitine deficiency is an inborn error of metabolism, which can lead to life-threating complications early in life. Low carnitine levels can be detected by newborn bloodspot screening (NBS). However, NBS can also identify
Externí odkaz:
https://doaj.org/article/a82195a8f14349af8f5558295f26e93f
Autor:
Elise A. Ferreira, Mark J. N. Buijs, Robin Wijngaard, Joost G. Daams, Mareen R. Datema, Marc Engelen, Clara D. M. van Karnebeek, Machteld M. Oud, Frédéric M. Vaz, Mirjam M. C. Wamelink, Saskia N. van der Crabben, Mirjam Langeveld
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Background/ObjectivesThe timely diagnosis of inherited metabolic disorders (IMD) is essential for initiating treatment, prognostication and genetic testing of relatives. Recognition of IMD in adults is difficult, because phenotypes are different from
Externí odkaz:
https://doaj.org/article/c44c3636bfe843e397324a3fa470aac2
Autor:
Eline C. B. Eskes, Cathrien R. L. Beishuizen, Eleonore M. Corazolla, Tessa van Middelaar, Marion M. M. G. Brands, Hanka Dekker, Erica van de Mheen, Mirjam Langeveld, Carla E. M. Hollak, Barbara Sjouke
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Introduction Several new treatment modalities are being developed for lysosomal storage disorders (LSDs), including gene therapy. As the currently available treatment options and their influence on disease progression differ greatly within t
Externí odkaz:
https://doaj.org/article/9d1b47e77b6549928fc8f4ca8c8e1114
Autor:
Nina N. Stolwijk, Mirjam Langeveld, Bart A. W. Jacobs, Liffert Vogt, Jorien A. Haverkamp, Sacha Ferdinandusse, Carla E. M. Hollak
Publikováno v:
JIMD Reports, Vol 63, Iss 5, Pp 407-413 (2022)
Abstract Recent studies have reported the potential for the therapeutic use of ketones in the form of ketone salts (KSs) in pediatric patients with fatty acid oxidation disorders (FAODs). We report a case of ketone salt administration in an adult pat
Externí odkaz:
https://doaj.org/article/a033a14004154c0986503b38749ae176
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 324-326 (2022)
Externí odkaz:
https://doaj.org/article/b238d1f7b445413fae8493ec903a5cdc
Autor:
Mohamed El Sayed, Pieter G. Postema, Mareen Datema, Laura van Dussen, Jan A. Kors, Cato C. ter Haar, Hidde Bleijendaal, Henrike Galenkamp, Bert-Jan H. van den Born, Carla E. M. Hollak, Mirjam Langeveld
Publikováno v:
Diagnostics, Vol 13, Iss 3, p 354 (2023)
Background: Fabry disease (FD) is an X-linked, lysosomal storage disorder leading to severe cardiomyopathy in a significant proportion of patients. To identify ECG markers that reflect early cardiac involvement and disease progression, we conducted a
Externí odkaz:
https://doaj.org/article/3e7eba642c0f40ebb436dbd0b4a94d9e
Autor:
Loek L. Crefcoeur, Monique G. M. deSain‐van der Velden, Sacha Ferdinandusse, Mirjam Langeveld, Rose Maase, Frédéric M. Vaz, Gepke Visser, Ronald J.A. Wanders, Frits A. Wijburg, Rendelien K. Verschoof‐Puite, Peter C. J. I. Schielen
Publikováno v:
JIMD Reports, Vol 56, Iss 1, Pp 95-104 (2020)
Abstract Background Free carnitine has been measured in the Dutch newborn screening (NBS) program since 2007 with a referral threshold of ≤5 μmol/L, regardless of gestational age or birthweight. However, several studies suggest that carnitine conc
Externí odkaz:
https://doaj.org/article/b00bf04c97214b27a501a6a2ead9fbf7
Autor:
Carla E. M. Hollak, Sandra Sirrs, Sibren van den Berg, Vincent van der Wel, Mirjam Langeveld, Hanka Dekker, Robin Lachmann, Saco J. de Visser
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Abstract Independent disease registries for pre-and post-approval of novel treatments for rare diseases are increasingly important for healthcare professionals, patients, regulators and the pharmaceutical industry. Current registries for rare disease
Externí odkaz:
https://doaj.org/article/afbdd2fe69ca4f0281f87c332c225ba6
Autor:
Simon Körver, Gert J. Geurtsen, Carla E. M. Hollak, Ivo N. van Schaik, Maria G. F. Longo, Marjana R. Lima, Leonardo Vedolin, Marcel G. W. Dijkgraaf, Mirjam Langeveld
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background Despite the high prevalence of depressive symptoms in Fabry disease (FD), it is unclear which patient characteristics are important in relation to these symptoms. Additionally, the impact of coping styles in relation to depressive
Externí odkaz:
https://doaj.org/article/202c9fc1b485482fbb298d9457d1fcd5