Saikat C. Santra

Steelhouse Lane
Birmingham, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 90 publications

Liver Transplantation for Inherited Metabolic Disorders: A Work in Progress.

Liver Transplantation for Inherited Metabolic Disorders: A Work in Progress.

Journal: Acta paediatrica (Oslo, Norway : 1992)

Published: September 28, 2025

From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D-Bifunctional Protein Deficiency in a Multicentre International Case Series.

From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D-Bifunctional Protein Deficiency in a Multicentre International Case Series.

Journal: Journal of inherited metabolic disease

Published: September 24, 2025

Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial.

Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial.

Journal: Molecular genetics and metabolism

Published: March 17, 2025

Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale.

Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale.

Journal: Molecular genetics and metabolism reports

Published: February 10, 2025

Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.

Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.

Journal: The Lancet. Neurology

Published: January 07, 2025

Outcomes of Pediatric Liver Transplantation in Glycogen Storage Disease Type 1b-A Single-Center Experience.

Outcomes of Pediatric Liver Transplantation in Glycogen Storage Disease Type 1b-A Single-Center Experience.

Journal: Pediatric transplantation

Published: April 23, 2024

All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency.

All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency.

Journal: bioRxiv : the preprint server for biology

Published: January 23, 2024

All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency.

All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency.

Journal: Scientific reports

Published: January 09, 2024

Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition.

Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition.

Journal: Journal of inherited metabolic disease

Published: December 22, 2023

The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.

The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.

Journal: Journal of inherited metabolic disease

Published: July 26, 2023

Tunable, reversible resistive switching behavior of PVA-zirconia nanocomposite films and validation of the trap-assisted switching mechanism by the selective application of external bias voltages.

Tunable, reversible resistive switching behavior of PVA-zirconia nanocomposite films and validation of the trap-assisted switching mechanism by the selective application of external bias voltages.

Journal: Physical chemistry chemical physics : PCCP

Published: June 02, 2023

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.

Journal: Epilepsia

Published: November 02, 2022

Showing 1-12 of 90

Last Updated: 09/26/2026