Maria C. Schiaffino

Genoa, Italy

Last Updated: 09/26/2026

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Found 16 publications

Expanded Newborn Screening Metabolites as Potential Biomarkers of Extrauterine Growth Restriction in Very-Low-Birth-Weight Preterm Infants.

Expanded Newborn Screening Metabolites as Potential Biomarkers of Extrauterine Growth Restriction in Very-Low-Birth-Weight Preterm Infants.

Journal: Nutrients

Published: June 11, 2026

A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review.

A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review.

Journal: Molecular genetics and metabolism reports

Published: May 03, 2025

Severe Lactic Acidosis Caused by Thiamine Deficiency in a Child with Relapsing Acute Lymphoblastic Leukemia: A Case Report.

Severe Lactic Acidosis Caused by Thiamine Deficiency in a Child with Relapsing Acute Lymphoblastic Leukemia: A Case Report.

Journal: Children (Basel, Switzerland)

Published: August 18, 2023

Quality of life aspects of a low protein diet using GMP in patients with phenylketonuria.

Quality of life aspects of a low protein diet using GMP in patients with phenylketonuria.

Journal: The Journal of international medical research

Published: September 23, 2022

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.

Journal: International journal of neonatal screening

Published: June 13, 2022

Long term follow-up in two siblings with Sengers syndrome: Case report.

Long term follow-up in two siblings with Sengers syndrome: Case report.

Journal: Italian journal of pediatrics

Published: February 28, 2022

Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.

Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.

Journal: Orphanet journal of rare diseases

Published: February 07, 2022

Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.

Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.

Journal: Orphanet journal of rare diseases

Published: June 23, 2021

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.

Journal: Molecular genetics and metabolism

Published: June 01, 2020

A mild impairment of K+ATP channel function caused by two different ABCC8 defects in an Italian newborn.

A mild impairment of K+ATP channel function caused by two different ABCC8 defects in an Italian newborn.

Journal: Acta diabetologica

Published: July 27, 2017

Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?

Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?

Journal: Cephalalgia : an international journal of headache

Published: September 22, 2016

Long-term outcome and need of re-operation in gastro-esophageal reflux surgery in children.

Long-term outcome and need of re-operation in gastro-esophageal reflux surgery in children.

Journal: Pediatric surgery international

Published: December 15, 2015

Showing 1-12 of 16

Last Updated: 09/26/2026