Sinziana Stanescu

15PUBLICATIONS
52CO-AUTHORS
Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Infant and child healthMedical genetics (excl. cancer genetics)Medical biochemistry - lipids
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Publications (15)

|Jun 25, 2026
Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry.

|Dec 30, 2025
Abnormal Splicing of <i>GALC</i> Transcripts Underlies Unusual Cases of Krabbe Disease.

María Domínguez-Ruiz, Juan Luis Chico, Laura López-Marín

|Aug 04, 2025
Multicenter study on long-term growth in patients with phenylketonuria.

S Stanescu, A Belanger-Quintana, J C Rocha

|Apr 12, 2025
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry.

Elena Martín-Hernández, Marcello Bellusci, Patricia Pérez-Mohand

|Aug 29, 2024
The Role of the Gut Microbiota in Sanfilippo Syndrome's Physiopathology: An Approach in Two Affected Siblings.

Raquel Barbero-Herranz, María Garriga-García, Ana Moreno-Blanco

|Mar 28, 2024
Women with Gaucher Disease.

Maria Del Mar Meijon-Ortigueira, Isabel Solares, Cecilia Muñoz-Delgado

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Frequent Collaborators

5 joint publications

Amaya Bélanger-Quintana

4 joint publications

Pilar Quijada-Fraile

3 joint publications

Pedro Ruiz-Sala

3 joint publications

Belén Pérez