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Last Updated: 01/07/2026
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Found 1461 publications
Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature.
Journal: Endocrine journal
Published: November 24, 2025
Severe neonatal presentation of Xp21 contiguous gene deletion: adrenal crisis and neuromuscular involvement.
Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: June 15, 2025
Pseudohypertriglyceridemia as a clue: clinical and genetic spectrum of glycerol kinase deficiency in three pediatric cases.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: May 19, 2025
Clinical and molecular spectrum of genetic hypertriglyceridaemia in North Indian children: a case series.
Journal: Pediatric endocrinology, diabetes, and metabolism
Published: May 12, 2025
Adenylosuccinate Synthase 1 Deficiency Improves Energy Metabolism by Promoting Adipose Tissue Re-esterification via Glycerol Kinase Upregulation.
Journal: Advanced science (Weinheim, Baden-Wurttemberg, Germany)
Published: April 07, 2025
Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic Disorder.
Journal: Journal of clinical research in pediatric endocrinology
Published: March 19, 2025
An exploratory study on the metagenomic and proteomic characterization of hypothyroidism in the first half of pregnancy and correlation with Th1/Th2 balance.
Journal: Frontiers in immunology
Published: February 11, 2025
Pseudohypertriglyceridemia in a Patient with Pancreatitis Without Evidence for Glycerol Kinase Deficiency: A Rare Case Report and Review of the Literature.
Journal: Diseases (Basel, Switzerland)
Published: December 24, 2024
Genetic and Clinical Characterization of Complex Glycerol Kinase Deficiency in Two Male Siblings: A Case Report.
Journal: Clinical medicine insights. Endocrinology and diabetes
Published: November 04, 2024
Complex glycerol kinase deficiency: A case report.
Journal: Archivos argentinos de pediatria
Published: October 31, 2024
Inhibition of hepatic gluconeogenesis in type 2 diabetes by metformin: complementary role of nitric oxide.
Journal: Medical gas research
Published: October 13, 2024
Last Updated: 01/07/2026