| Autor: |
M A, al-Essa, M S, Rashed, P T, Ozand |
| Rok vydání: |
2002 |
| Předmět: |
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| Zdroj: |
Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit. 5(6) |
| ISSN: |
1020-3397 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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