Zobrazeno 1 - 10
of 15
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:
Mendes MI; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands., Wolf NI; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam UMC and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, VU University Amsterdam, De Boelelaan 1117, 1081HV Amsterdam, the Netherlands., Rudinger-Thirion J; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN UPR 9002, Institut de Biologie Moléculaire et Cellulaire, 2 allée Konrad Roentgen, 67084 Strasbourg, France., Lenz D; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Frugier M; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN UPR 9002, Institut de Biologie Moléculaire et Cellulaire, 2 allée Konrad Roentgen, 67084 Strasbourg, France., Verloo P; Department of Pediatric Neurology, Center for Inherited Metabolic Disorders and metabERN, University Hospital Ghent, C. Heymanslaan 10, B-9000 Ghent, Belgium., Mandel H; Department of Genetic and Metabolic Disorders, Ziv Medical Center, Derech HaRambam 1, Safed, Israel., Manor J; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital Sheba Medical Center Tel-Hashomer, Derech Sheba 2, Ramat Gan, Israel., Kassel R; Department of Pediatrics, University of Alabama at Birmingham School of Medicine, 1670 University Blvd, Birmingham, AL 35233, USA., Corpeleijn WE; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Diabetes and Metabolism, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands., van der Rijt S; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands., Schroor EM; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands., van Dooren SJM; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands., Staufner C; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Salomons GS; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands., Smith DEC; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.
Publikováno v:
Nucleic acids research [Nucleic Acids Res] 2024 Nov 22. Date of Electronic Publication: 2024 Nov 22.
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.