97 results on '"Pronicki, Maciej"'
Search Results
2. THU-152-YI Liver fibrosis in adolescents and young adults with autoimmune hepatitis: magnetic resonance elastography, transient elastography and liver fibrosis changes during transition of care
3. Oxidative stress in metabolic dysfunction‐associated steatotic liver disease (MASLD): How does the animal model resemble human disease?
4. Update on the Histoenzymatic Methods for Visualization of the Activity of Individual Mitochondrial Respiratory Chain Complexes in the Human Frozen Sections
5. Genetic modifiers of liver phenotypes in pediatric Wilson disease: liver biopsy and transient elastography based study
6. Use of magnetic resonance elastography for accurate staging of liver fibrosis in children with autoimmune hepatitis
7. Recovering Mitochondrial Function in Patients’ Fibroblasts
8. BCOR expression in paediatric pineoblastoma
9. Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease
10. Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights
11. Wilson disease – liver pathology
12. Cancer Stem Cell Markers in Rhabdomyosarcoma in Children
13. Quantitative MR in Paediatric Patients with Wilson Disease: A Case Series Review
14. Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy
15. Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism
16. Myxoma in patients with hypertrophic obstructive cardiomyopathy. Retrospective single-center analysis
17. Histoenzymatic Methods for Visualization of the Activity of Individual Mitochondrial Respiratory Chain Complexes in the Muscle Biopsies from Patients with Mitochondrial Defects
18. Quantitative multiparametric MRI as a non-invasive stratification tool in children and adolescents with autoimmune liver disease
19. Transcriptional profiling of paediatric ependymomas identifies prognostically significant groups
20. Ras, TrkB, and ShcA Protein Expression Patterns in Pediatric Brain Tumors
21. Is there a common cause for paediatric Cushing’s disease?
22. Endoglin Expression and Microvessel Density as Prognostic Factors in Pediatric Rhabdomyosarcoma
23. HGG-21. GERMLINE MUTATIONS IN MSH2 GENE IN PEDIATRIC PATIENTS WITH CONGENITAL AND SPORADIC GLIOBLASTOMA
24. Gastrointestinal Phenotype of Fabry Disease in a Patient with Pseudoobstruction Syndrome
25. Western Diet Causes Obesity-Induced Nonalcoholic Fatty Liver Disease Development by Differentially Compromising the Autophagic Response
26. Multiparametric MRI as a Noninvasive Monitoring Tool for Children With Autoimmune Hepatitis
27. Interstitial Lung Disease in Children With Selected Primary Immunodeficiency Disorders—A Multicenter Observational Study
28. Hearing loss as a newly recognized symptom of GSD type I. A clinical report of four unrelated Polish patients.
29. Autoimmune hepatitis, Wilson’s disease, or both? An analysis of challenging cases
30. Giant-cell tumor and brown tumor in patients with renal failure and secondary hyperparathyroidism
31. Symptoms accompanying congenital ranula in neonates and infants – three case reports
32. Long-term outcome in patients after treatment for Cushing’s disease in childhood
33. Fat and Sugar—A Dangerous Duet. A Comparative Review on Metabolic Remodeling in Rodent Models of Nonalcoholic Fatty Liver Disease
34. OLIG2 is a novel immunohistochemical marker associated with the presence of PAX3/7-FOXO1 translocation in rhabdomyosarcomas
35. Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland
36. Mo1478 – Quantitative Mrcp Imaging: Preliminary Observations in a Cohort of Paediatric Patientswith Liver and Biliary Diseases
37. Tu1529 – A Combined Blood and Mr Imaging Risk Score for Monitoring Liver Inflammation in Paediatric Aih
38. FRI-013-A combined blood and MR imaging risk score for monitoring liver inflammation in paediatric AIH
39. FRI-069-Quantitative MRCP imaging: Preliminary observations in a cohort of paediatric patients with liver and biliary diseases
40. Tracheobronchial remnant as a cause of oesophageal stricture in children – case report and review of the literature
41. Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis
42. Pathogenesis of chronic constipation in a Polish group of paediatric patients – an attempt to create the optimal histopathological diagnostic protocol
43. Detection of new potentially pathogenic mutations in two patients with primary pigmented nodular adrenocortical disease (PPNAD) — case reports with literature review
44. Giant Intrapericardial Myxoma Adjacent to the Left Main Coronary Artery
45. Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy
46. MBRS-18. ALK EXPRESSION AT THE PROTEIN LEVEL IS A MARKER FOR THE DIFFERENTIATION DIAGNOSIS OF THE WNT-ACTIVATED TYPE OF PEDIATRIC MEDULLOBLASTOMA
47. Newborn presentation of Niemann–Pick disease type C – Difficulties and limitations of diagnostic methods
48. TBIO-13. CONSTITUTIONAL MOSAICISM OF CLINICALLY IMPORTANT GENETIC MARKERS IN PEDIATRIC BRAIN TUMORS DETECTED BY NEXT-GENERATION SEQUENCING
49. Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations
50. Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis
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