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Titolo:
Juvenile form of dihydropteridine reductase deficiency in 2 tunisian patients
Autore:
Larnaout, A; Belal, S; Miladi, N; Kaabachi, N; Mebazza, A; Dhondt, JL; Hentati, F;
Indirizzi:
Ernest Conseil Hosp, Neurol Serv, Natl Inst Neurol, Tunis, Tunisia Ernest Conseil Hosp Tunis Tunisia erv, Natl Inst Neurol, Tunis, Tunisia Ernest Conseil Hosp, Biochem Lab, Tunis, Tunisia Ernest Conseil Hosp Tunis Tunisia eil Hosp, Biochem Lab, Tunis, Tunisia Fac Libre Med, Biochim Lab, Lille, France Fac Libre Med Lille FranceFac Libre Med, Biochim Lab, Lille, France
Titolo Testata:
NEUROPEDIATRICS
fascicolo: 6, volume: 29, anno: 1998,
pagine: 322 - 323
SICI:
0174-304X(199812)29:6<322:JFODRD>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Keywords:
dihydropteridine reductase deficiency; juvenile fluctuating and progressive encephalopathy;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
4
Recensione:
Indirizzi per estratti:
Indirizzo: Larnaout, A Inst Natl Neurol, Tunis 1007, Tunisia Inst Natl Neurol TunisTunisia 1007 rol, Tunis 1007, Tunisia
Citazione:
A. Larnaout et al., "Juvenile form of dihydropteridine reductase deficiency in 2 tunisian patients", NEUROPEDIAT, 29(6), 1998, pp. 322-323

Abstract

Two brothers are described who had juvenile-onset DHPR deficiency. Both were considered normal until six years of age when they developed a fluctuating and progressive encephalopathy combining mental retardation, epilepsy, pyramidal, cerebellar and extrapyramidal signs.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 09:27:00