Hyperglycerolemia Latest Advances

Complex Glycerol Kinase Deficiency: A Case of Segmental Loss of Xp Chromosome - Correspondence.

Journal: Indian journal of pediatrics

Published: May 20, 2026

Complex Glycerol Kinase Deficiency: A Case of Segmental Loss of Xp Chromosome.

Journal: Indian journal of pediatrics

Published: March 09, 2026

A case report of Xp21 contiguous gene deletion syndrome with adrenal crisis and sensorineural hearing loss: clinical highlights and management pitfalls.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: February 28, 2026

Incidental diagnosis of glycerol kinase deficiency during investigation of hyponatraemia and acute kidney injury.

Journal: Annals of clinical biochemistry

Published: February 13, 2026

Endocannabinoid Enhancement via MAGL Inhibition in CDKL5 Deficiency: Selective Cellular Benefits and Domain-Specific Functional Effects in Adult Cdkl5 KO Mice.

Journal: International journal of molecular sciences

Published: February 11, 2026

A Rare Co-occurrence of Duchenne Muscular Dystrophy and Glycerol Kinase Deficiency Associated With Xp21 Contiguous Gene Deletion Syndrome: A Case Report.

Journal: Cureus

Published: December 24, 2025

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

Glycerol Kinase Gene Variant as a Cause of Pseudohypertriglyceridemia and Apparent Poor Response to Plozasiran.

Journal: JCEM case reports

Published: April 18, 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

Hyperglycerolemia Latest Advances

Find the Latest Research About Hyperglycerolemia

Complex Glycerol Kinase Deficiency: A Case of Segmental Loss of Xp Chromosome - Correspondence.

Complex Glycerol Kinase Deficiency: A Case of Segmental Loss of Xp Chromosome - Correspondence.

Complex Glycerol Kinase Deficiency: A Case of Segmental Loss of Xp Chromosome.

Complex Glycerol Kinase Deficiency: A Case of Segmental Loss of Xp Chromosome.

A case report of Xp21 contiguous gene deletion syndrome with adrenal crisis and sensorineural hearing loss: clinical highlights and management pitfalls.

A case report of Xp21 contiguous gene deletion syndrome with adrenal crisis and sensorineural hearing loss: clinical highlights and management pitfalls.

Incidental diagnosis of glycerol kinase deficiency during investigation of hyponatraemia and acute kidney injury.

Incidental diagnosis of glycerol kinase deficiency during investigation of hyponatraemia and acute kidney injury.

Endocannabinoid Enhancement via MAGL Inhibition in CDKL5 Deficiency: Selective Cellular Benefits and Domain-Specific Functional Effects in Adult Cdkl5 KO Mice.

Endocannabinoid Enhancement via MAGL Inhibition in CDKL5 Deficiency: Selective Cellular Benefits and Domain-Specific Functional Effects in Adult Cdkl5 KO Mice.

A Rare Co-occurrence of Duchenne Muscular Dystrophy and Glycerol Kinase Deficiency Associated With Xp21 Contiguous Gene Deletion Syndrome: A Case Report.

A Rare Co-occurrence of Duchenne Muscular Dystrophy and Glycerol Kinase Deficiency Associated With Xp21 Contiguous Gene Deletion Syndrome: A Case Report.

Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature.

Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature.

Severe neonatal presentation of Xp21 contiguous gene deletion: adrenal crisis and neuromuscular involvement.

Severe neonatal presentation of Xp21 contiguous gene deletion: adrenal crisis and neuromuscular involvement.

Pseudohypertriglyceridemia as a clue: clinical and genetic spectrum of glycerol kinase deficiency in three pediatric cases.

Pseudohypertriglyceridemia as a clue: clinical and genetic spectrum of glycerol kinase deficiency in three pediatric cases.

Clinical and molecular spectrum of genetic hypertriglyceridaemia in North Indian children: a case series.

Clinical and molecular spectrum of genetic hypertriglyceridaemia in North Indian children: a case series.

Glycerol Kinase Gene Variant as a Cause of Pseudohypertriglyceridemia and Apparent Poor Response to Plozasiran.

Glycerol Kinase Gene Variant as a Cause of Pseudohypertriglyceridemia and Apparent Poor Response to Plozasiran.

Adenylosuccinate Synthase 1 Deficiency Improves Energy Metabolism by Promoting Adipose Tissue Re-esterification via Glycerol Kinase Upregulation.

Adenylosuccinate Synthase 1 Deficiency Improves Energy Metabolism by Promoting Adipose Tissue Re-esterification via Glycerol Kinase Upregulation.