dc.contributor.author | Al Essa, M.A. | |
dc.contributor.author | Rashed, M.S. | |
dc.contributor.author | Ozand, P.T. | |
dc.date.accessioned | 2014-06-17T10:42:55Z | |
dc.date.available | 2014-06-17T10:42:55Z | |
dc.date.issued | 1999 | EN |
dc.identifier.issn | 1020-3397 | EN |
dc.identifier.other | http://applications.emro.who.int/emhj/0506/EMHJ_1999_5_6_1196_1203.pdf | EN |
dc.identifier.uri | https://iris.who.int/handle/10665/118818 | |
dc.description | 1196-1203 | EN |
dc.description.abstract | We considered the clinical, biochemical and radiological findings, and response to pyridoxine [vitamin B6] of 24 classic homocystinuric patients [15 females, 9 males] diagnosed at King Faisal Specialist Hospital and Research Centre. Common clinical findings included ectopia lentis [20 patients], skeletal system involvement [18 patients], vascular system involvement [9 patients] and mental retardation [all patients to varying degrees]. A number of unusual findings were reported. The parents of 21 patients were first-degree relatives and 19 patients had at least one other family member affected by the same disease. Only 4 patients responded to pyridoxine; their methionine level decreased to almost normal range | EN |
dc.language.iso | en | EN |
dc.subject | Betaine | EN |
dc.subject | Child, Preschool | EN |
dc.subject | Drug Monitoring | EN |
dc.subject | Drug Therapy, Combination | EN |
dc.subject | Methionine | EN |
dc.subject | Folic Acid | EN |
dc.subject | Pedigree | EN |
dc.subject | Pyridoxine | EN |
dc.subject | Treatment Outcome | EN |
dc.subject.mesh | Homocystinuria | EN |
dc.title | Classic homocystinuria: clinical, biochemical and radiological observations, and therapeutic outcome of 24 Saudi patients | EN |
dc.relation.ispartofjournal | EMHJ - Eastern Mediterranean Health Journal, 5 (6), 1196-1203, 1999 | |