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dc.contributor.authorAl Essa, M.A.
dc.contributor.authorRashed, M.S.
dc.contributor.authorOzand, P.T.
dc.date.accessioned2014-06-17T10:42:55Z
dc.date.available2014-06-17T10:42:55Z
dc.date.issued1999EN
dc.identifier.issn1020-3397EN
dc.identifier.otherhttp://applications.emro.who.int/emhj/0506/EMHJ_1999_5_6_1196_1203.pdfEN
dc.identifier.urihttps://iris.who.int/handle/10665/118818
dc.description1196-1203EN
dc.description.abstractWe 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 rangeEN
dc.language.isoenEN
dc.subjectBetaineEN
dc.subjectChild, PreschoolEN
dc.subjectDrug MonitoringEN
dc.subjectDrug Therapy, CombinationEN
dc.subjectMethionineEN
dc.subjectFolic AcidEN
dc.subjectPedigreeEN
dc.subjectPyridoxineEN
dc.subjectTreatment OutcomeEN
dc.subject.meshHomocystinuriaEN
dc.titleClassic homocystinuria: clinical, biochemical and radiological observations, and therapeutic outcome of 24 Saudi patientsEN
dc.relation.ispartofjournalEMHJ - Eastern Mediterranean Health Journal, 5 (‎6)‎, 1196-1203, 1999


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