Natalia Uşurelu

Diagnostic challenges in suspected mitochondrial disease: Clinical, metabolic, and genetic findings

Iulia Coliban, Daniela Blanita, Natalia Uşurelu, Victoria Sacara

Objectives: This study delineates the diagnostic architecture of patients referred with suspected mitochondrial disease through the integrated analysis of clinical, biochemical, instrumental, and genetic data. By comparing patients with mitochondrial involvement, alternative genetic disorders, and unresolved cases, we aim to define phenotypic …

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Clinical, biochemical, and genetic findings in a group of patients evaluated for suspected mitochondrial disorders

Daniela Blanita, Natalia Uşurelu, Victoria Sacara

Mitochondrial diseases (MDs) are clinically heterogeneous disorders caused by mutations in either mitochondrial DNA (mtDNA) or nuclear genes that impair oxidative phosphorylation. This study aimed to comprehensively characterize the clinical, biochemical, imaging, and molecular features of 37 patients exhibiting mitochondrial involvement, selected …

From validation to application: implementing a cost-effective qPCR assay for presymptomatic and symptomatic SMA diagnosis

Iulia Coliban, Natalia Uşurelu, Victoria Sacara

Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused mainly by homozygous deletion of exon 7 in the SMN1 gene. Early qualitative and quantitative diagnosis, especially in the presymptomatic stage, is essential for timely access to treatment and improved outcomes. This …

Congenital disorders of glycosylation - diagnosis experience in the Republic of Moldova

Daniela Blanita, Chiril Boiciuc, Alina Nicolescu, Victoria Sacara et autres

Introduction. Congenital disorders of glycosylation (CDG) represent a group of rare diseases with multisystem involvement and exponential expansion, characterized by defects in the glycosylation process, which is essential for the proper functioning of proteins and lipids. These often manifest under the guise …

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The importance of plasma amino acid profiling in the diagnosis of inborn errors of metabolism: analytical – prospective study

Victoria Hlistun, Egor Efremov, Daniela Blanita, Chiril Boiciuc et autres

Introduction. Inborn errors of metabolism (IEM) make up a large group of disorders caused by an inherited defect of proteins that have enzymatic, carrier, receptor or structural roles. The cumulative prevalence of IEM in different populations is around 1:500 – 800 newborns, …

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The screening by isoelectric focusing of transferrin for the diagnosis of congenital disorders of glycosylation

Daniela Blanita, Chiril Boiciuc, Victoria Sacara, Natalia Uşurelu

Background: Congenital Disorders of Glycosylation (CDG) are a group of inherited metabolic disorders caused by the defect in various steps in the biosynthesis of glycoproteins and other glycoconjugates. Material and methods: 40 patients under clinical suspicions for CDG at the Institute of …

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Gaucher disease type 1: the first experience of enzyme replacement therapy in pediatric practice in Moldova - case report.

Natalia Uşurelu, Daniela Blăniţă, Chiril Boiciuc, Victoria Hlistun et autres

) decreased by almost 60% in 6 months of ERT, reaching absolutely normal dimensions after 9 months. The ERT with Imiglucerase was tolerated very well by the patient, showing a clear improvement of clinical symptoms after 4-6 months of therapy, hematological picture …

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Congenital disorders of glycosylation: a booming chapter in pediatric genetics

Daniela Blanita, Chiril Boiciuc, Éva Morava, Natalia Uşurelu

SMA linked to unbalanced genomic changes: case report

Iulia Coliban, Daniela Blăniţă, Opalco Igor, Gladun Sergiu et autres

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N-glycosylation of proteins: interference between physiology and pathology

Chiril Boiciuc, Daniela Blanita, Victoria Hlistun, Dirk Leferber et autres

Leigh syndrome in a child – a case report

Ţurcan Doina, Natalia Uşurelu, Daniela Blanita, Victoria Sacara

Multisystem affection in child: NARP syndrome – mitochondrial disease (case presentation)

Daniela Blanita, Ţurcan Doina, Garaeva Svetlana, Postolati Galina et autres