Michela Semeraro
Rome, Italy
Last Updated: 09/26/2026
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Found 19 publications
Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?
Journal: JIMD reports
Published: August 01, 2025
HSD17B4-Related Disorder: Defining the Phenotype in Adult-Onset Patients.
Journal: Neurology. Genetics
Published: July 16, 2025
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN in-silico structural analysis.
Journal: Frontiers in genetics
Published: August 08, 2024
The diagnostic challenge of mild citrulline elevation at newborn screening.
Journal: Molecular genetics and metabolism
Published: December 29, 2021
Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient.
Journal: Orphanet journal of rare diseases
Published: January 18, 2021
A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.
Journal: Orphanet journal of rare diseases
Published: June 25, 2020
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
Journal: Journal of inherited metabolic disease
Published: April 03, 2020
Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
Journal: American journal of medical genetics. Part A
Published: June 25, 2019
Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration.
Journal: Frontiers in genetics
Published: September 17, 2018
The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: July 31, 2018
CUGC for lysinuric protein intolerance (LPI).
Journal: European journal of human genetics : EJHG
Published: May 31, 2018
Association between Maternal and Foetal Erythrocyte Fatty Acid Profiles and Birth Weight.
Journal: Nutrients
Published: January 11, 2018
Last Updated: 09/26/2026