Sofia A. Rahman
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 15 publications
Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis
Journal: Journal of clinical research in pediatric endocrinology
Published: September 17, 2020
Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management.
Journal: Reviews in endocrine & metabolic disorders
Published: March 19, 2020
Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation.
Journal: Journal of genetics and genomics = Yi chuan xue bao
Published: March 05, 2020
Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology.
Journal: International journal of pediatric endocrinology
Published: June 07, 2017
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
Journal: Journal of the American Society of Nephrology : JASN
Published: December 14, 2016
Hyperinsulinaemic hypoglycaemia in children and adults.
Journal: The lancet. Diabetes & endocrinology
Published: February 10, 2016
Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms.
Journal: Frontiers in endocrinology
Published: December 14, 2015
Use of Long-Acting Somatostatin Analogue (Lanreotide) in an Adolescent with Diazoxide-Responsive Congenital Hyperinsulinism and Its Psychological Impact.
Journal: Hormone research in paediatrics
Published: July 07, 2015
Thyroid Hormone Receptor Beta in the Ventromedial Hypothalamus Is Essential for the Physiological Regulation of Food Intake and Body Weight.
Journal: Cell reports
Published: May 28, 2015
Last Updated: 09/26/2026