Marianna Alagia

Naples, Italy

Last Updated: 09/26/2026

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Found 22 publications

Cerebral X-Linked Adrenoleukodystrophy Associated with Hemophilia A: A Case Report.

Cerebral X-Linked Adrenoleukodystrophy Associated with Hemophilia A: A Case Report.

Journal: Hormone research in paediatrics

Published: February 27, 2026

Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience.

Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience.

Journal: Orphanet journal of rare diseases

Published: April 20, 2025

Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project.

Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project.

Journal: Molecular genetics and metabolism

Published: September 10, 2024

Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.

Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.

Journal: Orphanet journal of rare diseases

Published: June 17, 2024

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).

Journal: Orphanet journal of rare diseases

Published: January 02, 2024

Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1.

Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: December 29, 2023

Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.

Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.

Journal: Genes

Published: March 21, 2023

A Novel Splicing SCN2A Mutation in an Adolescent With Low-Functioning Autism, Acute Dystonic Movement Disorder, and Late-Onset Generalized Epilepsy.

A Novel Splicing SCN2A Mutation in an Adolescent With Low-Functioning Autism, Acute Dystonic Movement Disorder, and Late-Onset Generalized Epilepsy.

Journal: Pediatric neurology

Published: July 24, 2022

Corrigendum to "A systematic cross-sectional survey of multiple sulfatase deficiency" [Mol Genet Metab. 2020 Aug;130(4):283-288].

Corrigendum to "A systematic cross-sectional survey of multiple sulfatase deficiency" [Mol Genet Metab. 2020 Aug;130(4):283-288].

Journal: Molecular genetics and metabolism

Published: November 04, 2020

Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene.

Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: June 21, 2020

A systematic cross-sectional survey of multiple sulfatase deficiency.

A systematic cross-sectional survey of multiple sulfatase deficiency.

Journal: Molecular genetics and metabolism

Published: April 11, 2020

Expansion of the phenotype of lateral meningocele syndrome.

Expansion of the phenotype of lateral meningocele syndrome.

Journal: American journal of medical genetics. Part A

Published: November 20, 2019

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Last Updated: 09/26/2026