Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
EXPERIENCE OF KING-FAISAL-SPECIALIST-HOSPITAL AND RESEARCH-CENTER WITH SAUDI ORGANIC-ACID DISORDERS - INTRODUCTION
Autore:
RASHED M; OZAND PT; ALAQEEL A; GASCON GG;
Indirizzi:
KING FAISAL SPECIALIST HOSP & RES CTR,DEPT BIOL & MED RES,MBC-03,POB 3354 RIYADH 11211 SAUDI ARABIA KING FAISAL SPECIALIST HOSP & RES CTR,DEPT PEDIAT RIYADH 11211 SAUDI ARABIA ARMED FORCES HOSP,DEPT PEDIAT RIYADH SAUDI ARABIA
Titolo Testata:
Brain & development
, volume: 16, anno: 1994, supplemento:, S
pagine: 1 - 6
SICI:
0387-7604(1994)16:<1:EOKARW>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
A DECARBOXYLASE DEFICIENCY; 4-HYDROXYBUTYRIC ACIDURIA; METABOLISM;
Keywords:
ORGANIC ACID DISORDER;
Tipo documento:
Editorial Material
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
41
Recensione:
Indirizzi per estratti:
Citazione:
M. Rashed et al., "EXPERIENCE OF KING-FAISAL-SPECIALIST-HOSPITAL AND RESEARCH-CENTER WITH SAUDI ORGANIC-ACID DISORDERS - INTRODUCTION", Brain & development, 16, 1994, pp. 1-6

Abstract

The Inborn Errors of Metabolism and Neurology Services of the King Faisal Specialist Hospital and Research Centre (KFSH&RC) and Armed Forces Hospital have received more than 1,500 patients suspected of having an organic acid disorder (OAD) during a period of four years. Of these, 307 patients, approximately 20%, had a clearly identifiable disorder. Identified OAD's constituted one-quarter of all patients diagnosed as having various types of inborn errors of metabolism during this period, in these clinical services. Prolonged follow-up was available in the majority of cases, allowing detailed clinical, neuroradiologic and neurophysiologic descriptions. Fifty patients (16%) had rare disordersby standards in the West. Approximately 25% were 'neurologic organic acidurias'. This is a new term we are introducing for OAD's manifesting primarily with neurologic signs, but without appreciable acidosis, hypoglycemia or hyperammonemia. In this special issue, we present the KFSH&RC experience with the rare disorders as individual articles. We estimate the frequency of OAD's in Saudi Arabia as 1/740 births. The increased frequency of OAD's in Saudi Arabia is probably due to increased consanguinity, since most OAD's occurred in excess in certain tribes; and due to increased surveillance and testing by our group. Saudi Arabia provides a unique opportunity for research in this area of pediatrics.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/09/20 alle ore 16:51:56