Maria Szczepanska

Zabrze, SL 41800, Poland

Last Updated: 09/26/2026

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Found 130 publications

TANGO2-related metabolic encephalopathy-arrhythmia syndrome unmasked in 22q11.2 deletion syndrome: hemizygous pathogenic variant, complex phenotype modified by two genetic conditions, and implications for proactive crisis prevention: a case report.

TANGO2-related metabolic encephalopathy-arrhythmia syndrome unmasked in 22q11.2 deletion syndrome: hemizygous pathogenic variant, complex phenotype modified by two genetic conditions, and implications for proactive crisis prevention: a case report.

Journal: BMC pediatrics

Published: March 05, 2026

A newborn with type 1 Bartter syndrome: challenges in the treatment and development during 30 months follow-up-a case report.

A newborn with type 1 Bartter syndrome: challenges in the treatment and development during 30 months follow-up-a case report.

Journal: Frontiers in pediatrics

Published: December 21, 2025

Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes.

Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes.

Journal: Nature communications

Published: October 09, 2025

Vascular access for hemodialysis and catheter-related bloodstream infections: a survey on preventive measures and treatment strategies by the EPDWG and ESPN Dialysis Working Group.

Vascular access for hemodialysis and catheter-related bloodstream infections: a survey on preventive measures and treatment strategies by the EPDWG and ESPN Dialysis Working Group.

Journal: European journal of pediatrics

Published: September 25, 2025

Real-world safety and efficacy of rADAMTS13 prophylaxis in congenital thrombotic thrombocytopenic purpura: experience from Polish patients previously treated with fresh frozen plasma.

Real-world safety and efficacy of rADAMTS13 prophylaxis in congenital thrombotic thrombocytopenic purpura: experience from Polish patients previously treated with fresh frozen plasma.

Journal: Haematologica

Published: July 16, 2025

Assessment of Eotaxin Concentration in Children with Chronic Kidney Disease.

Assessment of Eotaxin Concentration in Children with Chronic Kidney Disease.

Journal: International journal of molecular sciences

Published: June 26, 2025

Efficacy of Calcineurin Inhibition in Children With Steroid-Resistant Nephrotic Syndrome.

Efficacy of Calcineurin Inhibition in Children With Steroid-Resistant Nephrotic Syndrome.

Journal: Kidney international reports

Published: May 09, 2025

Early-Start Versus Late-Start Icodextrin for Children Receiving Chronic Peritoneal Dialysis: Findings from the International Pediatric Peritoneal Dialysis Network.

Early-Start Versus Late-Start Icodextrin for Children Receiving Chronic Peritoneal Dialysis: Findings from the International Pediatric Peritoneal Dialysis Network.

Journal: Clinical journal of the American Society of Nephrology : CJASN

Published: April 13, 2025

WT1 Gene Pathogenic Variants: Clinical Challenges and Treatment Strategies in Pediatric Nephrology-One Center Practice.

WT1 Gene Pathogenic Variants: Clinical Challenges and Treatment Strategies in Pediatric Nephrology-One Center Practice.

Journal: International journal of molecular sciences

Published: February 28, 2025

Exome analysis links kidney malformations to developmental disorders and reveals causal genes.

Exome analysis links kidney malformations to developmental disorders and reveals causal genes.

Journal: Nature communications

Published: November 16, 2024

Assessment of bone status and bone turnover in pediatric patients with familiar hypomagnesemia with hypercalciuria and nephrocalcinosis.

Assessment of bone status and bone turnover in pediatric patients with familiar hypomagnesemia with hypercalciuria and nephrocalcinosis.

Journal: Scientific reports

Published: November 11, 2024

Genome-wide studies define new genetic mechanisms of IgA vasculitis.

Genome-wide studies define new genetic mechanisms of IgA vasculitis.

Journal: medRxiv : the preprint server for health sciences

Published: October 17, 2024

Showing 1-12 of 130

Last Updated: 09/26/2026