|
First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders
|
12/06/2026 |
|
Perceived severity and parental distress after positive expanded newborn screening: parent–clinician concordance and dyadic processes
|
29/04/2026 |
|
Determination of new biomarkers for diagnosis of pyridoxine dependent epilepsy in human plasma and urine by liquid chromatography-mass spectrometry
|
09/06/2025 |
|
Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study
|
07/05/2025 |
|
Prevalence and predictors of parental distress at the communication of positivity at newborn screening for metabolic diseases: an Italian longitudinal study
|
16/12/2024 |
|
Effect of enzyme substitution therapy on brain magnetic resonance imaging and cognition in adults with phenylketonuria: A case series of three patients
|
25/10/2024 |
|
Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector
|
14/06/2024 |
|
Methylmalonic acidemia triggers lysosomalautophagy dysfunctions
|
14/06/2024 |
|
Unmet needs in phenylketonuria: an exploratory Italian survey among patients and caregivers
|
14/06/2024 |
|
Are Phe-Free Protein Substitutes Available in Italy for Infants with PKUAll the Same?
|
21/03/2024 |
