Publications by authors named "Bushra Afroze"

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Clinical experience of next generation sequencing based expanded carrier screening in high-risk couples from a tertiary healthcare center in Pakistan.
Fizza Akbar, Salman Kirmani, Muhammad Farrukh Qazi, Najia Minhas Ali, Zohra Hasan Ali, Bushra Afroze

Prenat Diagn· June 2025

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L-2-hydroxyglutarate impairs neuronal differentiation through epigenetic activation of expression.
Wen Gu, Xun Wang, Ashley Solmonson, Ling Cai, Yi Xiao, Bushra Afroze

bioRxiv· June 2025

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Evaluation of the clinical, biochemical, and molecular spectrum of Cobalamin C (CblC) defect in 33 patients from Pakistan.
Sibtain Ahmed, Ling Cai, Fizza Akbar, Ayra Siddiqui, Ralph J DeBerardinis, Bushra Afroze

Scand J Clin Lab Invest· October 2024

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An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolism.
Ling Cai, Hieu S Vu, Wen Gu, Hongli Chen, Jordan Franklin, Bushra Afroze

bioRxiv· December 2023

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The spectrum of hereditary neuromuscular disorders in the Pakistani population.
Fizza Akbar, Shafaq Muhammad Saleem, Ehtesham Khalid, Shahnaz Ibrahim, Bushra Afroze

Am J Med Genet A· October 2023

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Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan.
Sibtain Ahmed, Fizza Akbar, Ralph J DeBerardinis, Min Ni, Bushra Afroze

J Pediatr Endocrinol Metab· August 2023

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Experience in prenatal genetic testing and reproductive decision-making for monogenic disorders from a single tertiary care genetics clinic in a low-middle income country.
Amna Hanif, Fizza Akbar, Salman Kirmani, Amyna Jaffarali, Ghulam Zainab, Bushra Afroze

BMC Pregnancy Childbirth· June 2023

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L-2-hydroxyglutaric aciduria - review of literature and case series.
Sibtain Ahmed, Ayra Siddiqui, Ralph J DeBerardinis, Min Ni, Wen Gu Lai, Bushra Afroze

Ann Med Surg (Lond)· April 2023

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A descriptive case series of necrotising enterocolitis; occurrence at Aga Khan University Hospital.
Hina Mumtaz Hashmi, Bushra Afroze, Shabina Ariff, Ali Faisal Saleem

J Pak Med Assoc· September 2022

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Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan.
Sibtain Ahmed, Fizza Akbar, Amyna Jaffar Ali, Bushra Afroze

J Pediatr Endocrinol Metab· March 2022

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Perspective on newborn screening (NBS): Evidence sharing on conditions to be included in NBS in Pakistan.
Hafsa Majid, Lena Jafri, Sibtain Ahmed, Khadija Humayun, Salman Kirmani, Bushra Afroze

J Pak Med Assoc· March 2022

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Blue rubber bleb nevus syndrome in a Pakistani child: A case report and regional literature review.
Habib Qaiser, Kamran Sadiq, Bushra Afroze

J Pak Med Assoc· February 2022

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Musculoskeletal manifestations in Alkaptonuria: A cross-sectional study.
Aysha Habib Khan, Bushra Afroze, Hafsa Majid, Yusra Zaidi, Azeema Jamil

Medicine (Baltimore)· December 2021

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PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Camille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, Ehsan Ghayoor Karimiani, Salman Kirmani, Bushra Afroze

Genet Med· October 2021

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Clinico-Pathological and Molecular Spectrum of Biotinidase Deficiency- Experience from a Lower Middle-Income Country.
Sibtain Ahmed, Min Ni, Ralph J DeBerardinis, Anasufiza Habib, Fizza Akbar, Bushra Afroze

Clin Lab· June 2021

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A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy.
Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao

Genet Med· May 2021

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Maple syrup urine disease: magnetic resonance imaging findings in three patients.
Aliya Allahwala, Sibtain Ahmed, Bushra Afroze

J Pak Med Assoc· April 2021

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Is diagnosing patients with Organic Acidurias and Aminoacidopathies enough? Conundrums of a low middle-income country.
Hafsa Majid, Lena Jafri, Zeba Zulfiqar Ali, Bushra Afroze

Pak J Med Sci· January 2021

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Vitamin B6-dependent epilepsy due to pyridoxal phosphate-binding protein (PLPBP) defect - First case report from Pakistan and review of literature.
Sibtain Ahmed, Ralph J DeBerardinis, Min Ni, Bushra Afroze

Ann Med Surg (Lond)· December 2020

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Pyrroline-5-Carboxylate Reductase 2 Deficiency: A New Case and Review of the Literature.
Bushra Afroze, Saadet Mercimek-Andrews

Can J Neurol Sci· March 2020

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Glycogen storage diseases-time to flip the outdated diagnostic approach centered on liver biopsy with the molecular testing.
Sibtain Ahmed, Bushra Afroze

Pak J Med Sci· January 2020

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Retrospective Study of Patients with Hyperphenylalaninemia- Experience from a Tertiary Care Center in Pakistan.
Sibtain Ahmed, Hafsa Majid, Lena Jafri, Aysha Habib Khan, Zeba Zulfiqar Ali, Bushra Afroze

J Pak Med Assoc· April 2019

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Mitochondrial Neurogastrointestinal Encephalomyopathy Disease in Three Siblings from Pakistan with a Novel Mutation.
Sana Durrani, Bee Chin Chen, Yusnita Yakob, Lua Seok Hian, Bushra Afroze

J Pediatr Genet· March 2019

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Inherited metabolic disorders presenting as hypoxic ischaemic encephalopathy: A case series of patients presenting at a tertiary care hospital in Pakistan.
Maya Zahid, Aysha Habib Khan, Zabedah Md Yunus, Bee Chin Chen, Beat Steinmann, Bushra Afroze

J Pak Med Assoc· March 2019

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Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan.
Hafsa Majid, Lena Jafri, Aysha Habib Khan, Zeba Zulfiqar Ali, Azeema Jamil, Bushra Afroze

J Pak Med Assoc· April 2018

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