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Storage stability of five steroids and in dried blood spots for newborn screening and retrospective diagnosis of congenital adrenal hyperplasia

PloS one, 2020-05, Vol.15 (5), p.e0233724-e0233724

2020

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The Apical Endocytic-Lysosomal Apparatus in CLCN5 Mutations with Phenotypic-Genotypic Correlations in Three Cases

International journal of molecular sciences, 2024-01, Vol.25 (2), p.966

2024

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Comparison of different preparation techniques of dried blood spot quality controls in newborn screening for congenital adrenal hyperplasia

PloS one, 2021-05, Vol.16 (5), p.e0252091-e0252091

2021

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A rare tubulopathy: Dent's disease in the background of focal segmental glomerular sclerosis

Orvosi hetilap, 2023-05, Vol.164 (20), p.788

2023

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Ritka tubulopathia: Dent-betegség a focalis segmentalis glomerularis sclerosis hátterében

Orvosi hetilap, 2023-05, Vol.164 (20), p.788-791

2023

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Diagnosis of Epstein-Barr and cytomegalovirus infections using decision trees: an effective way to avoid antibiotic overuse in paediatric tonsillopharyngitis

BMC pediatrics, 2023-06, Vol.23 (1), p.301-301, Article 301

2023

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Evidence, detailed characterization and clinical context of complement activation in acute multisystem inflammatory syndrome in children

Scientific reports, 2022-11, Vol.12 (1), p.19759-19759, Article 19759

2022

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Updated and revised normal values of aortic pulse wave velocity in children and adolescents aged 3–18 years

Journal of human hypertension, 2021-07, Vol.35 (7), p.604-612

2021

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The role of complement in Streptococcus pneumoniae-associated haemolytic uraemic syndrome

Nephrology, dialysis, transplantation, 2013-09, Vol.28 (9), p.2237-2245

2013

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FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy

Frontiers in immunology, 2021-09, Vol.12, p.720183-720183

2021

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Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders

PloS one, 2016-03, Vol.11 (3), p.e0149241-e0149241

2016

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Hereditary and non-hereditary etiologies associated with extensive brain calcification: case series

Metabolic brain disease, 2021-10, Vol.36 (7), p.2131-2139

2021

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Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability

Journal of human genetics, 2018-11, Vol.63 (11), p.1189-1193

2018

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C4 nephritic factor in patients with immune-complex-mediated membranoproliferative glomerulonephritis and C3-glomerulopathy

Orphanet journal of rare diseases, 2019-11, Vol.14 (1), p.247-247, Article 247

2019

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Reference values for resting and post exercise hemodynamic parameters in a 6-18 year old population

Scientific data, 2020-01, Vol.7 (1), p.26-26, Article 26

2020

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A magasvérnyomás-betegség prevalenciája túlsúlyos és elhízott magyar gyermek- és serdülőkorú populációban

Orvosi hetilap, 2020-01, Vol.161 (4), p.151-160

2020

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Vitamin B12 (Cobalamin): Its Fate from Ingestion to Metabolism with Particular Emphasis on Diagnostic Approaches of Acquired Neonatal/Infantile Deficiency Detected by Newborn Screening

Metabolites, 2022-11, Vol.12 (11), p.1104

2022

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Epidemiology and clinical features of SARS‐CoV‐2 infection in hospitalized children across four waves in Hungary: A retrospective, comparative study from March 2020 to December 2021

Health science reports, 2022-11, Vol.5 (6), p.e937-n/a

2022

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PAX2 Mutation-Related Oligomeganephronia in a Young Adult Patient

Case reports in nephrology and dialysis, 2020-09, Vol.10 (3), p.163-173

2020

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Maternal and neonatal vitamin B 12 deficiency detected by expanded newborn screening

Orvosi hetilap, 2017-12, Vol.158 (48), p.1909

2017

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Childhood Obesity: Does it Have Any Effect on Young Arteries?

Frontiers in pediatrics, 2020-07, Vol.8, p.389-389

2020

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Blood pressure in preterm infants with bronchopulmonary dysplasia in the first three months of life

Pediatric nephrology (Berlin, West), 2024-08, Vol.39 (8), p.2475-2481

2024

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Long-term follow-up after cyclophosphamide and cyclosporine-A therapy in steroid-dependent and -resistant nephrotic syndrome

Pediatric nephrology (Berlin, West), 2008-07, Vol.23 (7), p.1085-1092

2008

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Single-Dose Nirsevimab for Prevention of RSV in Preterm Infants

The New England journal of medicine, 2020-07, Vol.383 (5), p.415-425

2020

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Comparing the Effects of Benzyladenine and meta-Topolin on Sweet Basil (Ocimum basilicum) Micropropagation

Notulae scientia biologicae, 2014-12, Vol.6 (4), p.422-427

2014

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Storage stability of five steroids and in dried blood spots for newborn screening and retrospective diagnosis of congenital adrenal hyperplasia

The Apical Endocytic-Lysosomal Apparatus in CLCN5 Mutations with Phenotypic-Genotypic Correlations in Three Cases

Comparison of different preparation techniques of dried blood spot quality controls in newborn screening for congenital adrenal hyperplasia

A rare tubulopathy: Dent's disease in the background of focal segmental glomerular sclerosis

Ritka tubulopathia: Dent-betegség a focalis segmentalis glomerularis sclerosis hátterében

Diagnosis of Epstein-Barr and cytomegalovirus infections using decision trees: an effective way to avoid antibiotic overuse in paediatric tonsillopharyngitis

Evidence, detailed characterization and clinical context of complement activation in acute multisystem inflammatory syndrome in children

Updated and revised normal values of aortic pulse wave velocity in children and adolescents aged 3–18 years

The role of complement in Streptococcus pneumoniae-associated haemolytic uraemic syndrome

FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy

Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders

Hereditary and non-hereditary etiologies associated with extensive brain calcification: case series

Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability

C4 nephritic factor in patients with immune-complex-mediated membranoproliferative glomerulonephritis and C3-glomerulopathy

Reference values for resting and post exercise hemodynamic parameters in a 6-18 year old population

A magasvérnyomás-betegség prevalenciája túlsúlyos és elhízott magyar gyermek- és serdülőkorú populációban

Vitamin B12 (Cobalamin): Its Fate from Ingestion to Metabolism with Particular Emphasis on Diagnostic Approaches of Acquired Neonatal/Infantile Deficiency Detected by Newborn Screening

Epidemiology and clinical features of SARS‐CoV‐2 infection in hospitalized children across four waves in Hungary: A retrospective, comparative study from March 2020 to December 2021

PAX2 Mutation-Related Oligomeganephronia in a Young Adult Patient

Maternal and neonatal vitamin B 12 deficiency detected by expanded newborn screening

Childhood Obesity: Does it Have Any Effect on Young Arteries?

Blood pressure in preterm infants with bronchopulmonary dysplasia in the first three months of life

Long-term follow-up after cyclophosphamide and cyclosporine-A therapy in steroid-dependent and -resistant nephrotic syndrome

Single-Dose Nirsevimab for Prevention of RSV in Preterm Infants

Comparing the Effects of Benzyladenine and meta-Topolin on Sweet Basil (Ocimum basilicum) Micropropagation

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