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  • Classic homocystinuria: clinical, biochemical and radiological observations, and therapeutic outcome of 24 Saudi patients / Al Essa, M.A.;Rashed, M.S.;Ozand, P.T.
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Classic homocystinuria: clinical, biochemical and radiological observations, and therapeutic outcome of 24 Saudi patients / Al Essa, M.A.;Rashed, M.S.;Ozand, P.T.

Tác giả : Al Essa, M.A.;Rashed, M.S.;Ozand, P.T.

Năm xuất bản : 1999

Chủ đề : 1. Betaine. 2. Child, Preschool. 3. Drug Monitoring. 4. Drug Therapy, Combination. 5. Folic Acid. 6. Homocystinuria. 7. Methionine. 8. Pedigree. 9. Pyridoxine. 10. Treatment Outcome.

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1196-1203 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
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https://iris.who.int/handle/10665/118818