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1.
EMHJ-Eastern Mediterranean Health Journal. 1999; 5 (6): 1196-1203
Dans Anglais | IMEMR | ID: emr-156717

Résumé

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


Sujets)
Enfant , Femelle , Humains , Mâle , Bétaïne , Enfant d'âge préscolaire , Surveillance des médicaments , Association de médicaments , Méthionine/sang , Acide folique , Pedigree , Pyridoxine , Résultat thérapeutique
2.
EMHJ-Eastern Mediterranean Health Journal. 1999; 5 (6): 1204-1207
Dans Anglais | IMEMR | ID: emr-156718

Résumé

We retrospectively reviewed clinical and biochemical data of four patients diagnosed with tyrosinaemia type II. Diagnosis was established by high plasma tyrosine and normal plasma phenylalanine levels using plasma high-pressure liquid chromatography and tandem mass spectrometry. All patients were mildly mentally retarded and had painful non-pruritic and hyperkeratotic plaques on the soles and palms. There were no ophthalmic symptoms. The patients dramatically responded clinically and biochemically to a diet restricted in tyrosine and phenylalanine


Sujets)
Adulte , Enfant , Femelle , Humains , Mâle , Chromatographie en phase liquide à haute performance , Spectrométrie de masse , Déficience intellectuelle/génétique , Phénylalanine/sang , Études rétrospectives , Tyrosine/sang
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