Zobrazeno 1 - 10
of 100
pro vyhledávání: '"Janneke G, Langendonk"'
Autor:
Loek L. Crefcoeur, Mireille C. Melles, Tobias A. Bruning, Rob Rodrigues Pereira, Janneke G. Langendonk
Publikováno v:
JIMD Reports, Vol 63, Iss 6, Pp 524-528 (2022)
Abstract Primary carnitine deficiency is a rare autosomal recessive disease associated with acute hypoketotic hypoglycaemia, cardiomyopathy and sudden cardiac death. Effective treatment with carnitine supplementation is available. An 18 months old bo
Externí odkaz:
https://doaj.org/article/b3dd4c97e8f040308562ee2225b94c32
Autor:
Martijn P.D. Haring, Fabian Peeks, Maaike H. Oosterveer, Martijn C.G.J. Brouwers, Carla E.M. Hollak, Mirian C.H. Janssen, Janneke G. Langendonk, Alexander J.M. Rennings, Margreet A.E.M. Wagenmakers, Henkjan J. Verkade, Terry G.J. Derks, Vincent E. de Meijer
Publikováno v:
JHEP Reports, Vol 4, Iss 8, Pp 100512- (2022)
Background & Aims: Glycogen storage disease type Ia (GSDIa) is an inborn error of carbohydrate metabolism caused by pathogenic variants in the glucose-6-phosphatase catalytic subunit 1 (G6PC1) gene and is associated with hepatocellular adenoma (HCA)
Externí odkaz:
https://doaj.org/article/c6cb44c1113f4e3fbd9c89e7b4f0c7d6
Autor:
Mendy M. Welsink-Karssies, Kim J. Oostrom, Merel E. Hermans, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, Esmee Oussoren, M. Estela Rubio Gozalbo, Maaike de Vries, Gert J. Geurtsen, Annet M. Bosch
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-4 (2020)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/ed4f87ab5e09425ab15c3a2e8a468511
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)
Abstract Background Aceruloplasminemia is a rare genetic iron overload disorder, characterized by progressive neurological manifestations. The effects of iron chelation on neurological outcomes have only been described in case studies, and are incons
Externí odkaz:
https://doaj.org/article/6e82996e49c941eca2df1331c8f68676
Autor:
Mendy M. Welsink-Karssies, Kim J. Oostrom, Merel E. Hermans, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, Esmee Oussoren, M. Estela Rubio Gozalbo, Maaike de Vries, Gert J. Geurtsen, Annet M. Bosch
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-13 (2020)
Abstract Background Despite early diagnosis and treatment, Classical Galactosemia (CG) patients frequently develop long-term complications, such as cognitive impairment. Available literature primarily reports on general intellectual abilities and sho
Externí odkaz:
https://doaj.org/article/59dbbee28c694cbeb9573c105db3cdb8
Autor:
Lena H.P. Vroegindeweij, Piotr A. Wielopolski, Agnita J.W. Boon, J.H. Paul Wilson, Rob M. Verdijk, Sipeng Zheng, Sylvestre Bonnet, Lucia Bossoni, Louise van der Weerd, Juan A. Hernandez-Tamames, Janneke G. Langendonk
Publikováno v:
NeuroImage, Vol 245, Iss , Pp 118752- (2021)
Aims: Non-invasive measures of brain iron content would be of great benefit in neurodegeneration with brain iron accumulation (NBIA) to serve as a biomarker for disease progression and evaluation of iron chelation therapy. Although magnetic resonance
Externí odkaz:
https://doaj.org/article/25680c7f65bc474789a8738d5494e084
Autor:
Lena H.P. Vroegindeweij, Lucia Bossoni, Agnita J.W. Boon, J.H. Paul Wilson, Marjolein Bulk, Jacqueline Labra-Muñoz, Martina Huber, Andrew Webb, Louise van der Weerd, Janneke G. Langendonk
Publikováno v:
NeuroImage: Clinical, Vol 30, Iss , Pp 102657- (2021)
Aims: Aceruloplasminemia is an ultra-rare neurodegenerative disorder associated with massive brain iron deposits, of which the molecular composition is unknown. We aimed to quantitatively determine the molecular iron forms in the aceruloplasminemia b
Externí odkaz:
https://doaj.org/article/2892d1da6b6146989455d63ca93974d4
Autor:
Thijs T. W. van Herpt, Roosmarijn F. H. Lemmers, Mandy van Hoek, Janneke G. Langendonk, Ronald J. Erdtsieck, Bert Bravenboer, Annelies Lucas, Monique T. Mulder, Harm R. Haak, Aloysius G. Lieverse, Eric J. G. Sijbrands
Publikováno v:
Diabetology & Metabolic Syndrome, Vol 9, Iss 1, Pp 1-10 (2017)
Abstract Background Type 2 diabetes is a major healthcare problem. Glucose-, lipid-, and blood pressure-lowering strategies decrease the risk of micro- and macrovascular complications. However, a substantial residual risk remains. To unravel the etio
Externí odkaz:
https://doaj.org/article/ff6853890dca40b89b392944f33cdd73
Autor:
Janneke G. Langendonk, Margreet A E M Wagenmakers, Debby Wensink, J. H. Paul Wilson, Sandra Coenen
Publikováno v:
Digestive and Liver Disease, 54(4), 515-520. Elsevier
Background In erythropoietic protoporphyria (EPP), which presents with severe painful phototoxicity, progressive deposition of protoporphyrins in hepatocytes and bile canaliculi may result in liver disease. Clinically EPP related liver disease ranges
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b564a2f792a5523fd0ba06ee386b445
https://pure.eur.nl/en/publications/f564b70a-d7a4-463a-b86e-0c8f12a02d23
https://pure.eur.nl/en/publications/f564b70a-d7a4-463a-b86e-0c8f12a02d23
Autor:
Robert J. Desnick, Hetanshi Naik, Debby Wensink, Manisha Balwani, Margreet A E M Wagenmakers, Jessica Overbey, E. J. E. Van Broekhoven, K. Wheeden, J. H. P. Wilson, Janneke G. Langendonk
Publikováno v:
Genetics in Medicine, 23(9), 1616-1623. Lippincott Williams & Wilkins
Purpose: Patients with erythropoietic protoporphyria (EPP), a severe painful photodermatosis, experience prodromal sensations when exposed to sunlight, which are the “warning signals” to exit the sun, as prolonged exposure causes an excruciatingl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccd3c1f14916211c771f1f5d9db0e406
https://doi.org/10.1038/s41436-021-01176-z
https://doi.org/10.1038/s41436-021-01176-z