Anjum Saeed

Lahore, PB, Pakistan

Last Updated: 09/26/2026

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Found 48 publications

Clinical Spectrum of Primary Hypomagnesemia with Secondary Hypocalcemia due to TRPM6 Mutation.

Clinical Spectrum of Primary Hypomagnesemia with Secondary Hypocalcemia due to TRPM6 Mutation.

Journal: Hormone research in paediatrics

Published: January 26, 2025

Vitamin D dependent rickets type 2A: a case series of two siblings with novel mutation in vitamin D receptor gene responded to high dose oral calcium and calcitriol.

Vitamin D dependent rickets type 2A: a case series of two siblings with novel mutation in vitamin D receptor gene responded to high dose oral calcium and calcitriol.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: December 17, 2024

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

Journal: Nature communications

Published: July 14, 2024

Diabetes and CFAP126 gene mutation; are they really linked together?

Diabetes and CFAP126 gene mutation; are they really linked together?

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: January 18, 2024

Aromatase deficiency due to novel CYP19A1 mutation: a rare cause of maternal and fetal virilization.

Aromatase deficiency due to novel CYP19A1 mutation: a rare cause of maternal and fetal virilization.

Journal: Case reports in perinatal medicine

Published: December 08, 2023

The Mutational Landscape Of Genetic Cholestatic Diseases In Pakistani Children.

The Mutational Landscape Of Genetic Cholestatic Diseases In Pakistani Children.

Journal: JPMA. The Journal of the Pakistan Medical Association

Published: September 12, 2023

Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children.

Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children.

Journal: The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology

Published: August 21, 2023

Corticosterone Methyl Oxidase Type 1 (CMO1) Deficiency Due to CYP11B2 Mutation: Two Case Reports.

Corticosterone Methyl Oxidase Type 1 (CMO1) Deficiency Due to CYP11B2 Mutation: Two Case Reports.

Journal: Cureus

Published: May 17, 2023

Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries.

Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: October 27, 2022

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.

Journal: American journal of human genetics

Published: June 11, 2022

Management challenges of Rabson Mendenhall syndrome in a resource limited country: a case report.

Management challenges of Rabson Mendenhall syndrome in a resource limited country: a case report.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: April 20, 2022

The Epidemiology and Outcome of Biliary Atresia: Saudi Arabian National Study (2000-2018).

The Epidemiology and Outcome of Biliary Atresia: Saudi Arabian National Study (2000-2018).

Journal: Frontiers in pediatrics

Published: April 16, 2022

Showing 1-12 of 48

Last Updated: 09/26/2026