Classic homocystinuria: clinical, biochemical and radiological observations, and therapeutic outcome of 24 Saudi patients

Autor:	al-Essa Ma, Pinar Ozand, Rashed Ms
Rok vydání:	1999
Předmět:	medicine.medical_specialty Pediatrics business.industry Homocystinuria General Medicine Disease medicine.disease Pyridoxine Methionine level Endocrinology Research centre Internal medicine Radiological weapon medicine Vitamin b6 Ectopia lentis business medicine.drug
Zdroj:	Eastern Mediterranean Health Journal. 5:1196-1203
ISSN:	1687-1634 1020-3397
DOI:	10.26719/1999.5.6.1196
Popis:	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
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::8d5becf376fce63d749b89edcb0933fe https://doi.org/10.26719/1999.5.6.1196 Zobrazit plný text záznamu