Cristina N. Alonso

Hospital De Pediatría Prof. Dr. Juan P. Garrahan
B, Argentina

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 46 publications

Peroxisomal disorder associated with ACOX1 gain-of-function mimicking neuroinflammatory disease.

Peroxisomal disorder associated with ACOX1 gain-of-function mimicking neuroinflammatory disease.

Journal: Neuromuscular disorders : NMD

Published: April 02, 2026

Expanding the genotypic landscape of the neuronal ceroid lipofuscinoses: clinical and molecular findings from a tertiary-care center in Argentina.

Expanding the genotypic landscape of the neuronal ceroid lipofuscinoses: clinical and molecular findings from a tertiary-care center in Argentina.

Journal: Seizure

Published: March 20, 2026

Retinoblastoma in Argentina: study of germline variants of the RB1 gene

Retinoblastoma in Argentina: study of germline variants of the RB1 gene

Journal: Medicina

Published: February 05, 2026

Immune Response and Safety of Anti-NeuGcGM3 Anti-Idiotype Vaccine Racotumomab in Patients With High-Risk Neuroblastoma: An Open-Label, Single-Arm, Multicenter Phase 2 Study in Argentina.

Immune Response and Safety of Anti-NeuGcGM3 Anti-Idiotype Vaccine Racotumomab in Patients With High-Risk Neuroblastoma: An Open-Label, Single-Arm, Multicenter Phase 2 Study in Argentina.

Journal: Pediatric blood & cancer

Published: December 23, 2025

From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.

From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.

Journal: Journal of child neurology

Published: December 23, 2025

GRIN2D-Related Developmental and Epileptic Encephalopathy Associated With Polymorphic Seizures Including Epileptic Spasms.

GRIN2D-Related Developmental and Epileptic Encephalopathy Associated With Polymorphic Seizures Including Epileptic Spasms.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: November 10, 2025

KCNJ11-associated infantile epileptic spasms syndrome and neonatal diabetes.

KCNJ11-associated infantile epileptic spasms syndrome and neonatal diabetes.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: September 18, 2025

NAXD Encephalopathy Mimicking Neuroinflammatory Disease.

NAXD Encephalopathy Mimicking Neuroinflammatory Disease.

Journal: American journal of medical genetics. Part A

Published: May 01, 2025

Rapid Electroclinical Evolution in HECW2-Related Developmental and Epileptic Encephalopathy: Report of a Likely Splicing Variant With Familial Transmission.

Rapid Electroclinical Evolution in HECW2-Related Developmental and Epileptic Encephalopathy: Report of a Likely Splicing Variant With Familial Transmission.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: January 17, 2025

Infantile Epileptic Spasms Syndrome: Unveiling clinical and genetic variability in a case series from Argentina.

Infantile Epileptic Spasms Syndrome: Unveiling clinical and genetic variability in a case series from Argentina.

Journal: Seizure

Published: November 05, 2024

Two familial cases of infantile epileptic spasms syndrome associated with UDP-glucose-6-dehydrogenase deficiency.

Two familial cases of infantile epileptic spasms syndrome associated with UDP-glucose-6-dehydrogenase deficiency.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: August 06, 2024

Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients.

Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients.

Journal: Medicina

Published: December 26, 2022

Showing 1-12 of 46

Last Updated: 09/26/2026