Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families

Autor: Mancini, G. M.S., Catsman-Berrevoets, C. E., De Coo, I. F.M., Aarsen, F. K., Kamphoven, J. H.J., Huijmans, J. G., Duran, M., Van Der Knaap, M. S., Jakobs, C., Salomons, G. S.

Publikováno v: American journal of medical genetics. Part A, 132A(3), 288-295. Wiley-Liss Inc.
Mancini, G M S, Catsman-Berrevoets, C E, De Coo, I F M, Aarsen, F K, Kamphoven, J H J, Huijmans, J G, Duran, M, Van Der Knaap, M S, Jakobs, C & Salomons, G S 2005, ' Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families ', American Journal of Medical Genetics, vol. 132 A, no. 3, pp. 288-295 . https://doi.org/10.1002/ajmg.a.30473
American Journal of Medical Genetics, 132 A(3), 288-295. Wiley-Liss Inc.

Four Dutch male patients, two brothers from unrelated families were referred for investigation of psychomotor and severe language/speech delay. All four patients showed growth deficiency over the years. Facial features and poor body habitus were quit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6600cf164d55e4747aa1ed9e262bb63f
https://pure.amc.nl/en/publications/two-novel-mutations-in-slc6a8-cause-creatine-transporter-defect-and-distinctive-xlinked-mental-retardation-in-two-unrelated-dutch-families(d5738848-1a0f-4309-aff7-9ac153a56044).html

Transient cerebellar eye closure and mutism after cerebellar tumor surgery: long-term clinical follow-up of neurologic and behavioral disturbances in a 14-year-old girl

Autor: Catsman-Berrevoets, C. E., Dongen, H. R., Aarsen, F. K., Philippe Paquier

Publikováno v: Vrije Universiteit Brussel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::10c5a5f401a919572364ea7bb61b10ea
https://hdl.handle.net/20.500.14017/e0bbe7af-10fe-44c1-b892-d40f56ae7147

Long-term cognitive functioning in children and adolescents who survived septic shock caused by Neisseria meningitidis.

Autor: Vermunt, L. C. A. C., Buysse, C. M. P., Aarsen, F. K., Catsman‐Berrevoets, C. E., Duivenvoorden, H. J., Joosten, K. F. M., Hazelzet, J. A., Verhulst, F. C., Utens, E. M. W. J.

Publikováno v: British Journal of Clinical Psychology; Jun2009, Vol. 48 Issue 2, p195-208, 14p

Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.

Autor: Abdennadher M; Boston Medical Center, Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts, USA., Inati SK; Neurophysiology of Epilepsy Unit, NINDS, National Institutes of Health, Bethesda, Maryland, USA., Rahhal S; Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Development, National Institutes of Health, Rockville, Maryland, USA., Khan O; Veterans Administration, Washington, District of Columbia, USA., Bartolini L; Hasbro Childrens' Hospital, Brown University, Providence, Rhode Island, USA., Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, NIMH, National Institutes of Health, Bethesda, Maryland, USA., Theodore W; Clinical Epilepsy Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA., Miller JS; Departments of Psychiatry and Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Porter FD; Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Development, National Institutes of Health, Rockville, Maryland, USA., Bianconi S; Eunice Kennedy Shriver National Institute of Child Health and Development, National Institutes of Health, Rockville, Maryland, USA.; Clinical Genetics, Kaiser Permanente Medical Group of Southern California, La Palma, California, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 337-345. Date of Electronic Publication: 2023 Oct 18.

Transition Readiness Assessment in Adolescents and Young Adults with Neurofibromatosis Type 1 (NF1).

Autor: Goetsch Weisman, Allison^1,2 (AUTHOR) aweisman@luriechildrens.org, Haws, Tina³ (AUTHOR), Lee, Joanna^1,2,4 (AUTHOR), Lewis, Andrea M.^5,6 (AUTHOR), Srdanovic, Nina^7,8 (AUTHOR), Radtke, Heather B.^9,10 (AUTHOR)

Publikováno v: Comprehensive Child & Adolescent Nursing. Sep2023, Vol. 46 Issue 3, p223-239. 17p. 4 Charts, 1 Graph.