Annamaria Sapuppo

Catania, Italy

Last Updated: 09/26/2026

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Found 23 publications

The recurrent SACS gene p.Arg272His hotspot expands the neurodevelopmental and cognitive spectrum of ARSACS.

The recurrent SACS gene p.Arg272His hotspot expands the neurodevelopmental and cognitive spectrum of ARSACS.

Journal: Neurogenetics
Published: May 15, 2026

Neuropsychological functioning and quality of life in congenital myopathies: a systematic review of children and caregiver outcomes.

Neuropsychological functioning and quality of life in congenital myopathies: a systematic review of children and caregiver outcomes.

Journal: Frontiers in medicine
Published: May 08, 2026

Beyond hypoxic-ischemic encephalopathy: genetic insights and precision diagnosis in neonatal encephalopathies.

Beyond hypoxic-ischemic encephalopathy: genetic insights and precision diagnosis in neonatal encephalopathies.

Journal: Frontiers in medicine
Published: April 28, 2026

WWOX-Related Epileptic Encephalopathy (WOREE Syndrome): Clinical Case Study and Literature Review.

WWOX-Related Epileptic Encephalopathy (WOREE Syndrome): Clinical Case Study and Literature Review.

Journal: Current issues in molecular biology
Published: March 15, 2026

Ketogenic Strategies in Neonatal Hypoxic-Ischemic Encephalopathy-The Road to Opening Up: A Scoping Review.

Ketogenic Strategies in Neonatal Hypoxic-Ischemic Encephalopathy-The Road to Opening Up: A Scoping Review.

Journal: Neurology international
Published: December 30, 2025

Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy.

Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy.

Journal: Genes
Published: October 21, 2025

Diagnosis of pediatric mitochondrial diseases via targeted next-generation sequencing (NGS): real-world data with the Blueprint Genetics® platform.

Diagnosis of pediatric mitochondrial diseases via targeted next-generation sequencing (NGS): real-world data with the Blueprint Genetics® platform.

Journal: Orphanet journal of rare diseases
Published: September 02, 2025

Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up.

Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up.

Journal: Nutrients
Published: December 16, 2024

Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature.

Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature.

Journal: Nutrients
Published: December 10, 2024

PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy?

PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy?

Journal: Molecular and cellular pediatrics
Published: November 12, 2024

Obesity as a Confounding Factor in the Diagnosis of Wilson's Disease: Case Report of Two Siblings with the Same Genotype but Different Clinical Courses.

Obesity as a Confounding Factor in the Diagnosis of Wilson's Disease: Case Report of Two Siblings with the Same Genotype but Different Clinical Courses.

Journal: Current issues in molecular biology
Published: April 21, 2024

Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis.

Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis.

Journal: Journal of clinical medicine
Published: February 12, 2024
Showing 1-12 of 23

Last Updated: 09/26/2026