Zobrazeno 1 - 10 of 164 pro vyhledávání: '"N Zelnik"'
1
Protracted Clinical Course for Patientsd with Canavan Disease
Autor: N. Zelnik, J. A. Hemli, Shaul Harel, Orly Elpeleg, A. S. Luder, N. Amir, Varda Gross-Tsur, Aviva Fattal
Publikováno v: Developmental Medicine & Child Neurology. 35:355-358
SUMMARY Before the establishment of h'-acetylaspartic aciduria due to aspartoacylase deficiency as the cause of Canavan disease, diagnosis was based on the characteristic clinical features and spongiform encephalopathy, a pathological response shared
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a8acfa453674db7c953f0567e2b51b4
https://doi.org/10.1111/j.1469-8749.1993.tb11649.x
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2
Clinical Manifestations of Psychiatric Patients Who Are Carriers of Tay-Sachs Disease
Autor: A Sheinkman, V Khazanov, A M Karpati, N Zelnik, L Peleg
Publikováno v: Neuropsychobiology. 41:127-131
Patients with late-onset Tay-Sachs disease (TSD) may manifest with neuropsychiatric features. We hypothesized that the prevalence of TSD carriers in psychiatric patients is higher than in the general population and their clinical profile is different
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::63916a13e548c8c85ed453d2fe8f67e5
https://doi.org/10.1159/000026644
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3
PP01.4 – 2720: Novel mutation in GRIN1 gene expressed as neonatal-onset drug-resistant epilepsy associated with microcephaly and polymicrogyria
Autor: E. Banne, L. Shemer-Meiri, V. Meiner, N. Zelnik
Publikováno v: European Journal of Paediatric Neurology. 19:S29-S30
Objective A male infant with severe psychomotor retardation, congenital progressive microcephaly who presented in the first week of life with intractable neonatal seizures underwent genetic analysis. Brain MRI showed migration and sulcation disorder
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::25f0f994b6b61c03c3ff0463eecc5260
https://doi.org/10.1016/s1090-3798(15)30094-5
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4
Late-onset G sub M2 gangliosidosis
Autor: Srinivasa S. Raghavan, M A Gama Sosa, N. Zelnik, Stefania Battistini, E. Leshinsky, Edwin H. Kolodny, R. De Gasperi, Joseph Yeretsian
Publikováno v: Neurology. 47:547-552
Late-onset GM2 gangliosidosis is a variant form of Tay-Sachs disease characterized by onset of symptoms and signs in adolescence or in early adult life. The deficiency of beta-hexosaminidase A (Hex A) in this form of GM2 gangliosidosis has been invar
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8afb0359f155ce801f00d954487e381f
https://doi.org/10.1212/wnl.47.2.547
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5
Neurologic Complications in Pediatric Solid Tumors
Autor: M. Weyl-Ben Arush, Abraham Kuten, H. Babilsky, M. Perez-Nachum, Moshe Stein, Janet Dale, N. Zelnik
Publikováno v: Oncology. 52:89-92
The cases of 61 children, consecutively diagnosed during 1986–1990 as having malignant solid tumors (but excluding those with brain tumors and lympho-proliferative diseases), were reviewed. Neurologic complications occurred in 19 (31 %), most often
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::642515754d6aaedfbb3d94ad4069c56d
https://doi.org/10.1159/000227436
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10
Seizure control and educational outcome in childhood-onset epilepsy
Autor: N, Zelnik, L, Sa'adi, Z, Silman-Stolar, I, Goikhman
Publikováno v: Journal of child neurology. 16(11)
Patients with epilepsy are more prone to have learning disabilities. This study investigated the therapeutic and educational outcome of 102 epileptic children. Analyzed data included age at onset, etiology, presence of underlying brain lesions, seizu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bebf747e6e3fe9ccf762f4d4079b61da
https://pubmed.ncbi.nlm.nih.gov/11732767
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