Zobrazeno 1 - 10
of 37
pro vyhledávání: '"F A, Wijburg"'
Autor:
A. R. Müller, B. den Hollander, P. M. van de Ven, K. C. B. Roes, L. Geertjens, H. Bruining, C. D. M. van Karnebeek, F. E. Jansen, M. C. Y. de Wit, L. W. ten Hoopen, A. B. Rietman, B. Dierckx, F. A. Wijburg, E. Boot, M. M. G. Brands, A. M. van Eeghen
Publikováno v:
BMC Psychiatry, Vol 24, Iss 1, Pp 1-14 (2024)
Abstract Background Many rare genetic neurodevelopmental disorders (RGNDs) are characterized by intellectual disability (ID), severe cognitive and behavioral impairments, potentially diagnosed as a comorbid autism spectrum disorder or attention-defic
Externí odkaz:
https://doaj.org/article/4f74098acbcb4b4a96235bd2a74ca971
Autor:
T. Conijn, C. De Roos, H. J. I. Vreugdenhil, E. M. Van Dijk-Lokkart, F. A. Wijburg, L. Haverman
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Parents of children with a rare progressive life-limiting illness are at risk for parental posttraumatic stress disorder (PTSD). Studies on the treatment of parental PTSD with eye movement and desensitization reprocessing (EMDR) t
Externí odkaz:
https://doaj.org/article/8d347e17fc6c4b18a1ae4ad649721ae8
Autor:
A. R. Müller, J. R. Zinkstok, N. N. J. Rommelse, P. M. van de Ven, K. C. B. Roes, F. A. Wijburg, E. de Rooij-Askes, C. Linders, E. Boot, A. M. van Eeghen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Smith–Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder characterized by intellectual disability and severe behavioural and sleep disturbances. Often, patients with SMS are diagnosed with attention-deficit/hyp
Externí odkaz:
https://doaj.org/article/03b44b1eb7904c2fa1d440f9de3bc076
Autor:
A.T. van der Ploeg, L. Broere, Gepke Visser, Saskia B. Wortmann, J. de Ruijter, M. E. Rubio-Gozalbo, Margot F. Mulder, F. A. Wijburg
Publikováno v:
Journal of inherited metabolic disease, 37(3), 447-454. Springer Netherlands
Journal of Inherited Metabolic Disease, 37(3), 447-454. Springer Netherlands
Journal of Inherited Metabolic Disease, 37, 3, pp. 447-54
Journal of Inherited Metabolic Disease, 37(3), 447-454. Wiley
Ruijter, J, Broere, L, Mulder, M F, van der Ploeg, A T, Rubio-Gozalbo, M E, Wortmann, S B, Visser, G & Wijburg, F A 2014, ' Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease) ', Journal of Inherited Metabolic Disease, vol. 37, no. 3, pp. 447-454 . https://doi.org/10.1007/s10545-013-9658-3
Journal of Inherited Metabolic Disease, 37, 447-54
Journal of Inherited Metabolic Disease, 37(3), 447-454. Springer Netherlands
Journal of Inherited Metabolic Disease, 37, 3, pp. 447-54
Journal of Inherited Metabolic Disease, 37(3), 447-454. Wiley
Ruijter, J, Broere, L, Mulder, M F, van der Ploeg, A T, Rubio-Gozalbo, M E, Wortmann, S B, Visser, G & Wijburg, F A 2014, ' Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease) ', Journal of Inherited Metabolic Disease, vol. 37, no. 3, pp. 447-454 . https://doi.org/10.1007/s10545-013-9658-3
Journal of Inherited Metabolic Disease, 37, 447-54
Item does not contain fulltext BACKGROUND: Mucopolysaccharidosis III (MPS III), known as Sanfilippo disease, is a lysosomal storage disorder mainly characterized by progressive neurodegeneration with cognitive decline and relatively attenuated somati
Autor:
Wim Kulik, H. van Lenthe, Lodewijk IJlst, Tom Wagemans, J. de Ruijter, N. van Vlies, F. A. Wijburg
Publikováno v:
Journal of inherited metabolic disease, 36(2), 271-279. Springer Netherlands
Sanfilippo disease (Mucopolysaccharidosis III) is a neurodegenerative lysosomal disorder characterized by accumulation of the glycosaminoglycan heparan sulfate (HS). MPS III has a large phenotypic variability and early assessment of disease severity
Publikováno v:
Current pharmaceutical biotechnology. 12(6):923-930
Mucopolysaccharosis III (MPS III) is a lysosomal storage disorder and belongs to the group of mucopolysaccharidoses. MPS III is caused by a deficiency of one of the four enzymes catalyzing the degradation of the glycosaminoglycan heparan sulfate. MPS
Publikováno v:
Molecular genetics and metabolism, 109(1), 49-53. Academic Press Inc.
Background Sanfilippo disease, or Mucopolysaccharidosis type III (MPS III), is a lysosomal storage disorder and a member of the mucopolysaccharidoses (MPSs). MPS III is clinically characterized by progressive neurodegeneration. Skeletal disease is no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21b50f0e449881560fd32ad1f09d3258
https://pure.amc.nl/en/publications/high-prevalence-of-femoral-head-necrosis-in-mucopolysaccharidosis-type-iii-sanfilippo-disease-a-national-observational-crosssectional-study(2f94e6dd-2236-4aa6-87eb-5a060eff8ecb).html
https://pure.amc.nl/en/publications/high-prevalence-of-femoral-head-necrosis-in-mucopolysaccharidosis-type-iii-sanfilippo-disease-a-national-observational-crosssectional-study(2f94e6dd-2236-4aa6-87eb-5a060eff8ecb).html
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 150(30)
Primary hyperoxaluria type I (PH1) is a congenital defect in glyoxylate metabolism caused by a deficiency in the liver-specific peroxisomal enzyme known as alanine glyoxylate aminotransferase (AGT). The deficiency is due to mutations in the AGXT gene
Publisher Summary This chapter describes inherited disorders of mitochondrial fatty-acid β-oxidation. Genetic diseases of mitochondrial fatty-acid oxidation (FAO) are important in the differential diagnosis of hypoglycemia, cardiomyopathy, skeletal-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::754296654c0e4729445e3165be6a00f8
https://doi.org/10.1016/s1877-3419(09)70068-6
https://doi.org/10.1016/s1877-3419(09)70068-6
Autor:
R. J. A. Wanders, Roelof-Jan Oostra, F. A. Wijburg, Pieter A. Bolhuis, E. M. Bleeker-Wagemakers, J. C. Cornelissen
Publikováno v:
Journal of inherited metabolic disease, 16(3), 531-533. Springer Netherlands
Leber's hereditary optic neuropathy (LHON; McKusick 308900) is a maternally inherited disease, characterized by acute or subacute loss of vision caused by severe bilateral optic neuropathy, usually around the age of 20 years. Approximately 50% of mal