Hyperglycerolemia Latest Advances

Glycerol 3-phosphate activates lipid metabolism through GATOR2-dependent regulation of mTORC1.

Journal: Science signaling

Published: July 14, 2026

Complex Glycerol Kinase Deficiency: A Case of Segmental Loss of Xp Chromosome - Author's Reply.

Journal: Indian journal of pediatrics

Published: June 02, 2026

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

Journal: Indian journal of pediatrics

Published: May 20, 2026

Clinical challenges of an Xp21 contiguous gene deletion syndrome in a newborn and 15 months of follow-up - case report.

Journal: Frontiers in endocrinology

Published: April 17, 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

Twelve Brazilian families with X-linked Congenital Adrenal Hypoplasia: new rearrangements and new variants in the NR0B1 gene.

Journal: Jornal de pediatria

Published: September 01, 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

Hyperglycerolemia Latest Advances

Find the Latest Research About Hyperglycerolemia

Glycerol 3-phosphate activates lipid metabolism through GATOR2-dependent regulation of mTORC1.

Glycerol 3-phosphate activates lipid metabolism through GATOR2-dependent regulation of mTORC1.

Complex Glycerol Kinase Deficiency: A Case of Segmental Loss of Xp Chromosome - Author's Reply.

Complex Glycerol Kinase Deficiency: A Case of Segmental Loss of Xp Chromosome - Author's Reply.

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.

Clinical challenges of an Xp21 contiguous gene deletion syndrome in a newborn and 15 months of follow-up - case report.

Clinical challenges of an Xp21 contiguous gene deletion syndrome in a newborn and 15 months of follow-up - case report.

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.

Twelve Brazilian families with X-linked Congenital Adrenal Hypoplasia: new rearrangements and new variants in the NR0B1 gene.

Twelve Brazilian families with X-linked Congenital Adrenal Hypoplasia: new rearrangements and new variants in the NR0B1 gene.

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.