 Member since Jun '07
Working languages: English to Italian
Spanish to Italian
French to Italian
|   torrianitrad
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Como, Italy Local time: 09:34 CEST (GMT+2)
Native in: Italian  | | |
Freelancer,  Verified member | | Translation | | Specializes in: | | Medical: Pharmaceuticals | Medical (general) | | Medical: Cardiology | Medical: Dentistry | | Medical: Instruments | Livestock / Animal Husbandry | | Wine / Oenology / Viticulture |
| Also works in: | | Medical: Health Care | Textiles / Clothing / Fashion | | Sports / Fitness / Recreation | Environment & Ecology | | Cosmetics, Beauty | Tourism & Travel | | Architecture |
More Less | | EUR | | PRO-level points: 8, Questions answered: 8 | | Wire transfer, Check, PayPal | Sample translations submitted: 1 English to Italian: A case of partial biotinidase deficiency associated with autism
General field: Medical | Source text - English
Neuropsychol Dev Cogn C Child Neuropsychol. 2003 Sep;9(3):184-8.
A case of partial biotinidase deficiency associated with autism.
Zaffanello M, Zamboni G, Fontana E, Zoccante L, Tato L.
Regional Center for Neonatal Congenital Errors of Metabolism, Department of Pediatrics, University of Verona, Verona, Italy.
marco.zaffanello@univr.it
We report the case of a child with partial biotinidase deficiency and autistic developmental disorder. We arrived at the diagnosis of biotinidase deficiency when the child was almost 4 years of age. Consequently, he began cofactor biotin treatment (10 mg daily) which did not resolve his autistic behavior. His younger brother was affected by partial biotinidase deficiency diagnosed at birth through our neonatal screening program. He was precociously treated with cofactor biotin therapy (10 mg daily) and did not show any behavioral abnormality or developmental delay. Since the brain is quite vulnerable to biotin deficiency, delayed biotin therapy could result in neurological damage. Our patient is the first case of partial biotinidase deficiency associated with autism. We hypothesize that the low biotinidase activity could have caused biotin deficiency in his brain and cerebrospinal fluids and consequently serious neurological problems, such as stereotyped and autistic behaviors, which were irreversible in spite of biotin supplementation. | Translation - Italian
Neuropsychol Dev Cogn Sect C Child Neuropsychol. 2003 Sep;9(3):184-8.
Un caso di deficit parziale di biotinidasi associato ad autismo.
Zaffanello M, Zamboni G, Fontana E, Zoccante L, Tato L.
Centro Regionale per gli Errori Congeniti Neonatali del Metabolismo, Dipartimento di Pediatria, Università di Verona, Verona, Italia.
marco.zaffanello@univr.it
Riferiamo il caso di un bambino con deficit parziale di biotinidasi e disturbo dello sviluppo di tipo autistico. Siamo arrivati alla diagnosi di deficit di biotinidasi quando il paziente aveva un'età di quasi 4 anni. Di conseguenza, il paziente ha iniziato il trattamento con il cofattore biotina (10 mg/die), che però non ha risolto il suo comportamento autistico. Il fratello più giovane era anch'egli affetto da deficit parziale di biotinidasi, diagnosticato alla nascita grazie al nostro programma di screening neonatale. Il paziente è stato sottoposto a terapia precoce con cofattore biotina (10 mg/die), e non ha mostrato alcuna anomalia comportamentale, né ritardi nello sviluppo. Poiché il cervello è alquanto vulnerabile al deficit di biotina, un ritardo nella terapia con biotina potrebbe causare un danno neurologico. Il nostro paziente è il primo caso di deficit parziale di biotinidasi associato ad autismo. Ipotizziamo che la bassa attività della biotinidasi possa aver causato il deficit di biotina a livello cerebrale e nel fluido cerebrospinale e, di conseguenza, gravi problemi neurologici, come i comportamenti stereotipati e autistici, che si sono rivelati irreversibili nonostante l’integrazione con biotina. |
More Less | | Other - CTI - Technical Translation Master – Medicine and Pharmacology (En>It) for Translators and Interpreters | | Years of translation experience: 12. Registered at ProZ.com: Jan 2007. Became a member: Jun 2007. | | N/A | English to Italian (Università Cattolica, Milano)
English to Italian (CTI-Medical Translation Master)
English to Italian (FSE Diploma: CAT tools)
Spanish to Italian (Università Cattolica, Milano)
French to Italian (Università Cattolica, Milano)
| | ATA, MET - Mediterranean Editors and Translators, ACTA - Associazione Consulenti Terziario Avanzato | | Microsoft Word, Powerpoint, SDL TRADOS | | http://www.torrianitrad.com | | torrianitrad endorses ProZ.com's Professional Guidelines. | | About me I am an Italian mother tongue, free-lance professional translator, specialized in En/Es/Fr>Italian translations on Med/Pharma, Quality Assurance/work safety, tourism/sports texts (among other things), with 10+ years of experience; I love to communicate via the Internet, foreign languages, and new technologies.
A perfectionist with great attention to detail, I am thorough, accurate and reliable, and am committed to consistent quality. Deadlines are always met. To have more info on how I can help you, please check MY WEBSITE.
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