About: Ribose-5-phosphate isomerase deficiency

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Ribose-5-phosphate isomerase deficiency is a human disorder caused by mutations in ribose-5-phosphate isomerase, an enzyme of the pentose phosphate pathway. With only four diagnosed patients over a 27-year period, RPI deficiency is the second rarest disease known as of now, being beaten only by affecting three individuals, Catherine and Kirstie Fields, and one unknown person.

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  • نقص ريبوز- 5 - فوسفات ايزوميرايز هو اضطراب بشري ناجم عن طفرات في مسار فوسفات البنتوز، انزيم رايبوز-5-فوسفات ايزوميرايز. مع وجود ثلاثة مرضى فقط تم تشخيصهم على مدى فترة 27 عامًا، يعد نقص RPI حاليًا واحدًا من أندر الأمراض في العالم. (ar)
  • Ribose-5-phosphate isomerase deficiency is a human disorder caused by mutations in ribose-5-phosphate isomerase, an enzyme of the pentose phosphate pathway. With only four diagnosed patients over a 27-year period, RPI deficiency is the second rarest disease known as of now, being beaten only by affecting three individuals, Catherine and Kirstie Fields, and one unknown person. (en)
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  • 440706
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  • Ribose-5-phosphate isomerase deficiency (en)
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  • RPI deficiency (en)
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  • نقص ريبوز- 5 - فوسفات ايزوميرايز هو اضطراب بشري ناجم عن طفرات في مسار فوسفات البنتوز، انزيم رايبوز-5-فوسفات ايزوميرايز. مع وجود ثلاثة مرضى فقط تم تشخيصهم على مدى فترة 27 عامًا، يعد نقص RPI حاليًا واحدًا من أندر الأمراض في العالم. (ar)
  • Ribose-5-phosphate isomerase deficiency is a human disorder caused by mutations in ribose-5-phosphate isomerase, an enzyme of the pentose phosphate pathway. With only four diagnosed patients over a 27-year period, RPI deficiency is the second rarest disease known as of now, being beaten only by affecting three individuals, Catherine and Kirstie Fields, and one unknown person. (en)
rdfs:label
  • نقص رايبوز-5-فوسفات ايزوميرايز (ar)
  • Ribose-5-phosphate isomerase deficiency (en)
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  • Ribose-5-phosphate isomerase deficiency (en)
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