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Freelance translator and/or interpreter, Verified member
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English to Italian - Rates: 0.06 - 0.12 EUR per word / 20 - 30 EUR per hour French to Italian - Rates: 0.06 - 0.12 EUR per word / 20 - 30 EUR per hour Spanish to Italian - Rates: 0.06 - 0.12 EUR per word / 20 - 30 EUR per hour
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Sample translations submitted: 1
English to Italian: A case of partial biotinidase deficiency associated with autism. General field: Medical Detailed field: Medical (general)
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. [email protected]
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. [email protected]
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. Subito dopo, il paziente ha iniziato il trattamento con il cofattore biotina (10 mg/die), che però non ha risolto il 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. Questo 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 nell’avvio della terapia di somministrazione della 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.
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Years of experience: 26. Registered at ProZ.com: Mar 2018. Became a member: Dec 2023.
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Keywords: Italian, italiano, Italian translator, traduttore italiano, traduttore inglese-italiano, medical translator, traduttore medico, medicine, pharmacology, veterinary sciences. See more.Italian, italiano, Italian translator, traduttore italiano, traduttore inglese-italiano, medical translator, traduttore medico, medicine, pharmacology, veterinary sciences, medicina, veterinaria, farmacologia, PIL, SPC, SOP, MSDS, fogli illustrativi, EMA, EMEA, cardiology, cardiologia, dentistry, odontoiatria, rare metabolic diseases, malattie metaboliche, autism, autismo, oncology, oncologia, epidemiology, epidemiologia, clinical records, cartelle cliniche, work medicine, medicina del lavoro, Interior Design, Viticulture, viticoltura, vinificazione, wine-making, tourism, turismo, horse-riding, equitazione, running, corsa.. See less.
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