Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Ennio Toscano"'
1
Early Intervention for Children With Down Syndrome in Southern Italy
Autor: Luigi Titomanlio, Onorina Di Mita, Ennio Toscano, Antonella Bonaccorso, G. Mansi, Alfonso Romano, Giuseppe Brogna, Ennio Del Giudice, Generoso Andria, Roberto Paludetto
Publikováno v: Infants & Young Children. 19:50-58
The aim of this study was to assess whether parent-implemented developmental training—by means of the Carolina Curriculum for Infants and Toddlers with Special Needs (CCITSN)—could be of greater benefit to young children with Down syndrome (DS) t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8412e9ccbcae5c0d88c819e282a76c15
https://doi.org/10.1097/00001163-200601000-00006
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2
Subclinical hypothyroidism and Down's syndrome; studies on myocardial structure and function
Autor: G. Andria, E. Del Giudice, Marina Verrengia, O Di Mita, M. Salerno, S Di Maio, B Caniello, Giuseppe Pacileo, Giuseppe Limongelli, Ennio Toscano, Raffaele Calabrò
Publikováno v: Archives of Disease in Childhood. 88:1005-1008
Background: The management of subclinical hypothyroidism (SH) is still controversial, as the benefit to risk ratio of prolonged L-thyroxine therapy is not clear cut. Some authors have shown abnormalities of myocardial function and structure in adults
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c2944677bae0d35270fd01675cd914e
https://doi.org/10.1136/adc.88.11.1005
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3
No mutation in theTRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V
Autor: Yasuhiro Indo, Generoso Andria, Ennio Toscano, Alessandro Simonati
Publikováno v: Annals of Neurology. 52:224-227
Hereditary sensory and autonomic neuropathy type IV (HSAN-IV) and type V (HSAN-V) are autosomal recessive genetic disorders, both characterized by a lack of pain sensation. We report a girl with clinical and neurophysiological findings consistent wit
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b21345f0806663a27fe9236e02f17a91
https://doi.org/10.1002/ana.10245
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4
Congenital Insensitivity to Pain with Anhidrosis: Novel Mutations in the TRKA (NTRK1) Gene Encoding A High-Affinity Receptor for Nerve Growth Factor
Autor: Yasuhiro Indo, Essam A.R. Ismail, Generoso Andria, Sek Mardy, Ichiro Matsuda, Gail E. Graham, Philippe M. Frossard, László Sztriha, Fumio Endo, Alfons Macaya, Yuichi Miura, William T. Gibson, Ennio Toscano, Allie Moosa
Publikováno v: The American Journal of Human Genetics. 64(6):1570-1579
SummaryCongenital insensitivity to pain with anhidrosis (CIPA) is characterized by recurrent episodes of unexplained fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. Hum
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d05bedc0d1e8133d1825c5d2a2fef23c
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6
Multisystemic involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor (Trk A) related disorder
Autor: Ennio Toscano, R. Della Casa, Claudio Pignata, Sek Mardy, L. Gaetaniello, Yasuhiro Indo, Generoso Andria, F. Sadile
Congenital insensitivity to pain with anhidrosis (CIPA), a rare autosomal recessive disorder, is characterized by insensitivity to pain, self-mutilating behaviour, anhidrosis and recurrent hyperpyrexia. It is a hereditary sensory and autonomic neurop
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2141288f45ce30d4f799ece8ce54375
http://hdl.handle.net/11588/332711
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Plný text Recenzováno Digitální knihovna AV ČR
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