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Annals of the Academy of Medicine, Singapore|November 12, 2009
Newborn screening in Pakistan - lessons from a hospital-based congenital hypothyroidism screening programmeBushra Afroze, Khadija Nuzhat Humayun, Maqbool Qadir
European Journal of Pediatrics|July 25, 2013
Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiencyBushra Afroze, Zabedah Yunus, Beat Steinmann, et al.
Pakistan Journal of Medical Sciences|December 16, 2021
Is diagnosing patients with Organic Acidurias and Aminoacidopathies enough? Conundrums of a low middle-income countryHafsa Majid, Lena Jafri, Zeba Zulfiqar Ali, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|January 6, 2022
Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in PakistanSibtain Ahmed, Fizza Akbar, Amyna Jaffar Ali, et al.
Annals of Medicine and Surgery (2012)|January 11, 2021
Vitamin B6-dependent epilepsy due to pyridoxal phosphate-binding protein (PLPBP) defect - First case report from Pakistan and review of literatureSibtain Ahmed, Ralph J DeBerardinis, Min Ni, et al.
JPMA. the Journal of the Pakistan Medical Association|July 14, 2026
Pitt-Hopkins syndrome (PTHS)- a case report from PakistanAsghar Nasir, Bushra Afroze, Saad Ilyas, et al.
JPMA. the Journal of the Pakistan Medical Association|October 25, 2022
A descriptive case series of necrotising enterocolitis; occurrence at Aga Khan University HospitalHina Mumtaz Hashmi, Bushra Afroze, Shabina Ariff, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|July 13, 2023
Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from PakistanSibtain Ahmed, Fizza Akbar, Ralph J DeBerardinis, et al.
Brain & Development|February 11, 2014
Adrenal insufficiency in a child with MELAS syndromeBushra Afroze, Nida Amjad, Shahnaz H Ibrahim, et al.
Journal of Pediatric Genetics|February 19, 2019
Mitochondrial Neurogastrointestinal Encephalomyopathy Disease in Three Siblings from Pakistan with a Novel MutationSana Durrani, Bee Chin Chen, Yusnita Yakob, et al.
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