B. Afroze

发表

Evaluating laboratory performance in external quality assessment schemes for urine organic acids by GCMS

L. Jafri, N. Sherazi, A. Jamil, 2015 .

Newborn screening in Pakistan - lessons from a hospital-based congenital hypothyroidism screening programme.

B. Afroze, K. Humayun, Maqbool Qadir, 2008, Annals of the Academy of Medicine, Singapore.

Inherited metabolic disorders presenting as hypoxic ischaemic encephalopathy: A case series of patients presenting at a tertiary care hospital in Pakistan.

B. Afroze, B. Steinmann, Z. M. Yunus, 2019, JPMA. The Journal of the Pakistan Medical Association.

Pre-natal genetic counseling in a resource limited country--a single center geneticist's perspectives.

B. Afroze, F. Jehan, 2014, JPMA. The Journal of the Pakistan Medical Association.

Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan

B. Afroze, Sibtain Ahmed, Fizza Akbar, 2022, Journal of pediatric endocrinology & metabolism : JPEM.

Genetics of non-syndromic autosomal recessive mental retardation.

B. Afroze, B. Chaudhry, 2013, JPMA. The Journal of the Pakistan Medical Association.

Dyssegemental dyspalsia; Rolland-Desbuquois type--a case report from Pakistan.

B. Afroze, 2010, JPMA. The Journal of the Pakistan Medical Association.

Fanconi–Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets

B. Afroze, Margaret A. Chen, 2016, Journal of Pediatric Genetics.

Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency

R. Santer, B. Afroze, B. Steinmann, 2013, European Journal of Pediatrics.

Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan.

M. Wasay, B. Afroze, 2013, Journal of the College of Physicians and Surgeons--Pakistan : JCPSP.

Biotinidase deficiency in Pakistani children; what needs to be known and done.

M. Wasay, B. Afroze, 2012, JPMA. The Journal of the Pakistan Medical Association.

Ethical issues in managing Lysosomal storage disorders in children in low and middle income countries

B. Afroze, N. Brown, 2017, Pakistan journal of medical sciences.

Clinico-Pathological and Molecular Spectrum of Biotinidase Deficiency- Experience from a Lower Middle-Income Country.

R. Deberardinis, Min Ni, B. Afroze, 2021, Clinical laboratory.

Is diagnosing patients with Organic Acidurias and Aminoacidopathies enough? Conundrums of a low middle-income country

L. Jafri, B. Afroze, H. Majid, 2021, Pakistan journal of medical sciences.

Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.

L. Jafri, N. Sherazi, A. Jamil, 2017, Journal of the College of Physicians and Surgeons--Pakistan : JCPSP.

Challenges identified in the management of patients with inherited metabolic disorders – A five year experience from Pakistan

B. Afroze, F. Naz, Z. M. Yunus, 2016 .

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

D. Sillence, S. Robertson, A. Mégarbané, 2010, American journal of medical genetics. Part A.

Griscelli syndrome type 2 – A case report and clinical approach to silver blonde hair

B. Afroze, Michael C. Chicka, S. Durrani, 2016 .

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

J. Veltman, S. Letteboer, R. Roepman, 2009, American journal of human genetics.

OFD 1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA 5-Encoded Lebercilin

J. Veltman, S. Letteboer, R. Roepman, 2009 .

Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex

B. Afroze, Affandi Omar, S. Raza, 2016 .

Musculoskeletal manifestations in Alkaptonuria

L. Jafri, A. Jamil, B. Afroze, 2021, Medicine.

PIGG variant pathogenicity assessment reveals characteristic features within 19 families

S. Antonarakis, S. Ellard, R. Truty, 2021, Genetics in Medicine.

Glutaric aciduria type 1--importance of early diagnosis and treatment.

B. Afroze, Z. Yunus, 2014, JPMA. The Journal of the Pakistan Medical Association.

A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy

N. Grishin, R. Deberardinis, J. Pei, 2021, Genetics in Medicine.

Blue rubber bleb nevus syndrome in a Pakistani child: A case report and regional literature review.

K. Sadiq, B. Afroze, Habib Qaiser, 2022, JPMA. The Journal of the Pakistan Medical Association.

Retrospective Study of Patients with Hyperphenylalaninemia- Experience from a Tertiary Care Center in Pakistan.

L. Jafri, B. Afroze, Sibtain Ahmed, 2019, JPMA. The Journal of the Pakistan Medical Association.

L-2-hydroxyglutaric aciduria – review of literature and case series

R. Deberardinis, Min Ni, B. Afroze, 2023, Annals of medicine and surgery.

Perioperative anesthetic management of children having Inborn errors of metabolism

B. Afroze, B. Salim, F. Shamim, 2017, Saudi journal of anaesthesia.

Glycogen storage diseases-time to flip the outdated diagnostic approach centered on liver biopsy with the molecular testing

B. Afroze, Sibtain Ahmed, 2019, Pakistan journal of medical sciences.

Molybdenum cofactor deficiency in a Malaysian child.

B. Afroze, L. Ngu, O. Affandi, 2009, Singapore medical journal.

Mitochondrial Neurogastrointestinal Encephalomyopathy Disease in Three Siblings from Pakistan with a Novel Mutation

B. Afroze, Y. Yakob, B. Chen, 2018, Journal of Pediatric Genetics.

Adrenal insufficiency in a child with MELAS syndrome

B. Afroze, S. Ibrahim, Y. Yakob, 2014, Brain and Development.

Maple syrup urine disease: magnetic resonance imaging findings in three patients.

B. Afroze, Sibtain Ahmed, A. Allahwala, 2021, JPMA. The Journal of the Pakistan Medical Association.

Vitamin B6-dependent epilepsy due to pyridoxal phosphate-binding protein (PLPBP) defect – First case report from Pakistan and review of literature

R. Deberardinis, Min Ni, B. Afroze, 2020, Annals of medicine and surgery.

The spectrum of hereditary neuromuscular disorders in the Pakistani population

S. Kirmani, B. Afroze, S. Ibrahim, 2023, American journal of medical genetics. Part A.

Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-Methylene-tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan

R. Deberardinis, B. Afroze, Sibtain Ahmed, 2023, Journal of pediatric endocrinology & metabolism : JPEM.

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

S. Kirmani, B. Afroze, G. Zainab, 2023, BMC Pregnancy and Childbirth.

Pyrroline-5-Carboxylate Reductase 2 Deficiency: A New Case and Review of the Literature

B. Afroze, S. Mercimek-Andrews, 2020, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Perspective on newborn screening (NBS): Evidence sharing on conditions to be included in NBS in Pakistan.

S. Kirmani, B. Moiz, L. Jafri, 2022, JPMA. The Journal of the Pakistan Medical Association.