Mariana A. Loos

Hospital De Pediatría Prof. Dr. Juan P. Garrahan, Combate De Los Pozos 1881
B, Argentina

Last Updated: 09/26/2026

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Found 23 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

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

Monozygotic twins with ZMYND11-related developmental and epileptic encephalopathy with spike-and-wave activation in sleep.

Monozygotic twins with ZMYND11-related developmental and epileptic encephalopathy with spike-and-wave activation in sleep.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: November 17, 2025

Glucose transporter type 1 deficiency syndrome: Phenotypes, molecular findings, and ketogenic therapy implementation in Argentina.

Glucose transporter type 1 deficiency syndrome: Phenotypes, molecular findings, and ketogenic therapy implementation in Argentina.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: November 02, 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

Non-epileptic stimulus-sensitive myoclonus in a newborn with developmental and epileptic encephalopathy associated with the SCN8A gene.

Non-epileptic stimulus-sensitive myoclonus in a newborn with developmental and epileptic encephalopathy associated with the SCN8A gene.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: June 09, 2024

De novo absence status epilepticus associated with the SLC6A1 gene in a pediatric patient.

De novo absence status epilepticus associated with the SLC6A1 gene in a pediatric patient.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: September 30, 2023

Argentinean Consensus on the Diagnosis and Treatment of Niemann- Pick Disease Type C

Argentinean Consensus on the Diagnosis and Treatment of Niemann- Pick Disease Type C

Journal: Medicina

Published: August 15, 2023

Showing 1-12 of 23

Last Updated: 09/26/2026