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Full-Text Articles in Medicine and Health Sciences
Remarks About The Study On Infection-Associated Relapses In Children With Nephrotic Syndrome: A Short-Term Outcome Study, Akbar Shoukat Ali, Raheel Allana, Rahim Jandani
Remarks About The Study On Infection-Associated Relapses In Children With Nephrotic Syndrome: A Short-Term Outcome Study, Akbar Shoukat Ali, Raheel Allana, Rahim Jandani
Department of Medicine
No abstract provided.
Diagnosis, Treatment And Follow-Up In Four Children With Biotinidase Deficiency From Pakistan, Bushra Afroze, Mohammad Wasay
Diagnosis, Treatment And Follow-Up In Four Children With Biotinidase Deficiency From Pakistan, Bushra Afroze, Mohammad Wasay
Department of Medicine
Biotinidase deficiency is an inherited disorder in which the vitamin biotin is not recycled. If untreated, affected individuals develop neurological and cutaneous symptoms. Untreated individuals with biotinidase deficiency either succumb to disease or are left with significant morbidity. We describe clinical course and follow-up of 4 children from Pakistan. All 4 presented with classical symptoms of biotinidase deficiency and responded dramatically to oral biotin within days to weeks. Biotinidase deficiency is reported in Pakistani children from different part of world, however; there is no such report from Pakistan. This highlights lack of awareness of biotinidase deficiency among physicians in Pakistan