Zobrazeno 1 - 10
of 14
pro vyhledávání: '"van Dooren SJM"'
Autor:
van de Kamp, JM, Errami, A, Howidi, M, Anselm, I, Winter, S, Phalin-Roque, J, Osaka, H, van Dooren, SJM, Verheijen - Mancini, Grazia, Steinberg, SJ, Salomons, GS
Publikováno v:
van de Kamp, J M, Errami, A, Howidi, M, Anselm, I, Winter, S, Phalin-Roque, J, Osaka, H, van Dooren, S J M, Mancini, G M, Steinberg, S J & Salomons, G 2015, ' Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1 ', Clinical Genetics, vol. 87, no. 2, pp. 141-147 . https://doi.org/10.1111/cge.12355
Clinical Genetics, 87(2), 141-147. Wiley-Blackwell
Clinical Genetics, 87(2), 141-147. Wiley-Blackwell Publishing Ltd
Clinical Genetics, 87(2), 141-147. Wiley-Blackwell
Clinical Genetics, 87(2), 141-147. Wiley-Blackwell Publishing Ltd
The BCAP31 gene is located between SLC6A8, associated with X-linked creatine transporter deficiency, and ABCD1, associated with X-linked adrenoleukodystrophy. Recently, loss-of-function mutations in BCAP31 were reported in association with severe dev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::29348b5c9c09ff5fa8ca8500f7f5269b
https://research.vumc.nl/en/publications/ff56d44d-ccf0-4861-b771-c8e87832c282
https://research.vumc.nl/en/publications/ff56d44d-ccf0-4861-b771-c8e87832c282
Autor:
Salomons, GS, van Dooren, SJM, van der Knapp, MS, Elting, MW, Ribes, A., Barić, Ivo, Holton, A., Neubauer, B., Korman, S., Rumenapf, T., Hennermann, Lee, C., Aydin, A., Vianey-Saban, C., Zafeiriou, DI, Suri, M., Coker, EM, Verhoeven, NM, Jakobs, C.
L-2-HGA is a rare autosomal recessive neurrometabolic disorder, which was recently described to be caused by mutations in the L-2-HGA gene. WE therefore investigated if this gene caused the disease in 20 unrelated families (24 patients.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::a6c6aa6b87f29a31c940c67ab14032cd
https://www.bib.irb.hr/215011
https://www.bib.irb.hr/215011
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Autor:
van Kuilenburg ABP; Amsterdam University Medical Center, University of Amsterdam, Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands., Pleunis-van Empel MCH; Medisch Spectrum Twente, Department of Oncology, Enschede, the Netherlands., Brouwer RB; Department of Clinical Chemistry and Laboratory Medicine, Medisch Spectrum Twente, Medlon BV, Enschede, the Netherlands., Sijben AEJ; Department of Neurology, Medisch Spectrum Twente, Enschede, the Netherlands., Knapen DG; Department of Medical Oncology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Oude Munnink TH; Department of Clinical Pharmacy and Pharmacology, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands., van Zanden JJ; Martini Hospital Groningen, Certe Department of Clinical Chemistry, the Netherlands., Janssens-Puister J; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Dobritzsch D; Department of Chemistry, Uppsala University, Biomedical Center, Uppsala, Sweden., Meinsma R; Amsterdam University Medical Center, University of Amsterdam, Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands., Meijer-Jansen J; Amsterdam University Medical Center, University of Amsterdam, Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands., van Dooren SJM; Amsterdam University Medical Center, University of Amsterdam, Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands., Vijzelaar R; MRC-Holland bv, Amsterdam, the Netherlands., Pop A; Amsterdam University Medical Center, University of Amsterdam, Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands., Salomons GS; Amsterdam University Medical Center, University of Amsterdam, Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands., Maring JG; Departments of Clinical Pharmacy and Medical Oncology, Isala, Zwolle, the Netherlands., Niezen-Koning KE; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Publikováno v:
JCO precision oncology [JCO Precis Oncol] 2024 May; Vol. 8, pp. e2300599.
Autor:
Beerepoot S; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Center, VU University Amsterdam and Amsterdam Neuroscience, De Boelelaan, 1117, Amsterdam, The Netherlands.; Center for Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands., van Dooren SJM; Department of Clinical Chemistry, Metabolic Unit, Amsterdam University Medical Center, VU University Amsterdam, and Amsterdam Neuroscience, Amsterdam, The Netherlands., Salomons GS; Department of Clinical Chemistry, Metabolic Unit, Amsterdam University Medical Center, VU University Amsterdam, and Amsterdam Neuroscience, Amsterdam, The Netherlands.; Department of Clinical Chemistry, Laboratory of Genetic Metabolic Diseases, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands., Boelens JJ; Center for Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Pediatrics, Stem Cell Transplant and Cellular Therapies, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Jacobs EH; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., van der Knaap MS; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Center, VU University Amsterdam and Amsterdam Neuroscience, De Boelelaan, 1117, Amsterdam, The Netherlands.; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, The Netherlands., van Kuilenburg ABP; Department of Clinical Chemistry, Laboratory of Genetic Metabolic Diseases, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands., Wolf NI; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Center, VU University Amsterdam and Amsterdam Neuroscience, De Boelelaan, 1117, Amsterdam, The Netherlands. n.wolf@amsterdamumc.nl.; Amsterdam UMC, location VUmc, De Boelelaan 1118, 1081 HV, Amsterdam, The Netherlands. n.wolf@amsterdamumc.nl.
Publikováno v:
Neurogenetics [Neurogenetics] 2020 Oct; Vol. 21 (4), pp. 289-299. Date of Electronic Publication: 2020 Jul 07.