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Informe técnico Cantidad de artículos:  1

Contribuciones científicas Cantidad de artículos:  5

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Detalles
Categoría de nivel principal o raíz: Documenti
Categoría: Pubblicazioni
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high-quality data, expert consensus was additionally obtained through a modified Delphi process. Remethylation disorders are rare inherited conditions that disrupt the methionine–homocysteine cycle and consecutively impair essential methylation dependent metabolic pathways.

Perceived severity and parental distress after positive expanded newborn screening: parent–clinician concordance and dyadic processes

Detalles
Categoría de nivel principal o raíz: Documenti
Categoría: Pubblicazioni
Abstract Receiving a positive expanded newborn screening result is highly stressful for parents. This study ...

Determination of new biomarkers for diagnosis of pyridoxine dependent epilepsy in human plasma and urine by liquid chromatography-mass spectrometry

Detalles
Categoría de nivel principal o raíz: Documenti
Categoría: Pubblicazioni
Abstract Keywords: Pyridoxine dependent epilepsy 2S,6S-/2S,6R-Oxopropylpiperidine-2- Carboxylic Acid 6-Oxopiperidine-2-Carboxylic Acid Urine Plasma High pressure liquid chromatography ...

Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study

Detalles
Categoría de nivel principal o raíz: Documenti
Categoría: Pubblicazioni
Abstract Objective: Single Large Scale Mitochondrial DNA Deletions (SLSMDs), Pearson Syndrome (PS) and Kearns-Sayre Syndrome ...

Prevalence and predictors of parental distress at the communication of positivity at newborn screening for metabolic diseases: an Italian longitudinal study

Detalles
Categoría de nivel principal o raíz: Documenti
Categoría: Pubblicazioni
ABSTRACT Background Receiving communication of positivity for metabolic diseases at Expanded Newborn Screening can be extremely ...

Effect of enzyme substitution therapy on brain magnetic resonance imaging and cognition in adults with phenylketonuria: A case series of three patients

Detalles
Categoría de nivel principal o raíz: Documenti
Categoría: Pubblicazioni
Abstract Phenylketonuria, the most common inherited metabolic disease, results from a deficiency of phenylalanine hydroxylase ...

Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector

Detalles
Categoría de nivel principal o raíz: Documenti
Categoría: Pubblicazioni
ABSTRACT GM3 synthase deficiency (GM3SD) is caused by biallelic variants in the ST3GAL5 gene. Early ...

Methylmalonic acidemia triggers lysosomalautophagy dysfunctions

Detalles
Categoría de nivel principal o raíz: Documenti
Categoría: Pubblicazioni
Abstract Background Methylmalonic acidemia (MMA) is a rare inborn error of propionate metabolism caused by ...

Unmet needs in phenylketonuria: an exploratory Italian survey among patients and caregivers

Detalles
Categoría de nivel principal o raíz: Documenti
Categoría: Pubblicazioni
Valentina Rovelli, Annamaria Dicintio & Chiara Cazzorla To cite this article: Valentina Rovelli, Annamaria Dicintio ...

Are Phe-Free Protein Substitutes Available in Italy for Infants with PKUAll the Same?

Detalles
Categoría de nivel principal o raíz: Documenti
Categoría: Pubblicazioni
Abstract: Breastfeeding or standard infant formulas, alongside phenylalanine (Phe)-free protein substitutes, constitute the dietary management ...

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