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Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease.
- Published in:
- Nutrients, 2024, v. 16, n. 6, p. 812, doi. 10.3390/nu16060812
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- Publication type:
- Article
Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Classical Homocystinuria—A Preliminary Study.
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- Nutrients, 2023, v. 15, n. 9, p. 2112, doi. 10.3390/nu15092112
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- Publication type:
- Article
Polish Experience with Liver Transplantation and Post-Transplant Outcomes in Children with Urea Cycle Disorders.
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- Annals of Transplantation, 2017, v. 22, p. 555, doi. 10.12659/AOT.904580
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- Publication type:
- Article
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
- Published in:
- 2018
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- Publication type:
- journal article
Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls.
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- Acta Biochimica Polonica, 2020, v. 67, n. 2, p. 225, doi. 10.18388/abp.2020_5202
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- Publication type:
- Article
Differential Effects of Resveratrol on HECa10 and ARPE-19 Cells.
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- Applied Sciences (2076-3417), 2022, v. 12, n. 22, p. 11314, doi. 10.3390/app122211314
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- Publication type:
- Article
Relationship Between Dopamine D<sub>2</sub> Receptor-Associated Responses and Operant Ethanol Self-Administration in the Rat: A Factor Analysis.
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- Alcohol & Alcoholism, 2003, v. 38, n. 4, p. 305, doi. 10.1093/alcalc/agg081
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- Publication type:
- Article
HISTOPATHOLOGICAL LIVER FINDINGS IN PATIENTS WITH HEPATOCEREBRAL MITOCHONDRIAL DEPLETION SYNDROME WITH DEFINED MOLECULAR BASIS.
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- Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists, 2019, v. 70, n. 3, p. 224, doi. 10.5114/pjp.2019.90401
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- Publication type:
- Article
HISTOPATHOLOGICAL LIVER FINDINGS IN PATIENTS WITH HEPATOCEREBRAL MITOCHONDRIAL DEPLETION SYNDROME WITH DEFINED MOLECULAR BASIS.
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- Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists, 2018, v. 69, n. 3, p. 292, doi. 10.5114/PJP.2018.79549
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- Publication type:
- Article
In search of a common denominator in the course of congenital hyperammonemias.
- Published in:
- Folia Neuropathologica, 2022, v. 60, n. 3, p. 372
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- Publication type:
- Article
Treatment and therapy of metabolic disorders associated with hyperammonemia.
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- Folia Neuropathologica, 2022, v. 60, n. 3, p. 371
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- Publication type:
- Article
The clinical picture of primary hyperammonemias in Poland -- an update.
- Published in:
- Folia Neuropathologica, 2022, v. 60, n. 3, p. 369
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- Publication type:
- Article
Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease.
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- Folia Neuropathologica, 2017, v. 55, n. 2, p. 146, doi. 10.5114/fn.2017.68581
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- Publication type:
- Article
Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome.
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- Folia Neuropathologica, 2016, v. 54, n. 4, p. 405, doi. 10.5114/fn.2016.64819
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- Publication type:
- Article
Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B -- the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies.
- Published in:
- Folia Neuropathologica, 2014, v. 52, n. 4, p. 452, doi. 10.5114/fn.2014.47847
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- Publication type:
- Article
Virginal breast hypertrophy in a patient with Beckwith–Wiedemann syndrome.
- Published in:
- 2018
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- Publication type:
- Case Study
Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 10, p. 738, doi. 10.3390/diagnostics10100738
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- Publication type:
- Article
Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience.
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- Diagnostics (2075-4418), 2020, v. 10, n. 5, p. 297, doi. 10.3390/diagnostics10050297
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- Publication type:
- Article
Hyaline Fibromatosis Syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors.
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- EMBO Molecular Medicine, 2011, v. 3, n. 4, p. 208, doi. 10.1002/emmm.201100124
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- Publication type:
- Article
Schimke immuno-osseous dysplasia: two cases.
- Published in:
- 2003
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- Publication type:
- journal article
Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.1019283
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- Publication type:
- Article
Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study.
- Published in:
- 2024
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- Publication type:
- Case Study
The potential of dietary treatment in patients with glycogen storage disease type IV.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 693, doi. 10.1002/jimd.12339
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- Publication type:
- Article
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 115, doi. 10.1007/s10545-015-9860-6
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- Publication type:
- Article
Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment.
- Published in:
- Children, 2021, v. 8, n. 7, p. 1, doi. 10.3390/children8070532
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- Publication type:
- Article
The RELIEF study: Tolerability and efficacy of preservative-free latanoprost in the treatment of glaucoma or ocular hypertension.
- Published in:
- European Journal of Ophthalmology, 2019, v. 29, n. 2, p. 210, doi. 10.1177/1120672118785280
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- Publication type:
- Article
Modified by the Innovative Drugs and Strategies—Pattern of Selected Indications for Pediatric Liver Transplantation.
- Published in:
- Pediatric Transplantation, 2024, v. 28, n. 5, p. 1, doi. 10.1111/petr.14825
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- Publication type:
- Article
Ocular pharmacokinetics of a new preservative‐free bimatoprost 0.01% ophthalmic gel.
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- Acta Ophthalmologica (1755375X), 2024, v. 102, p. N.PAG, doi. 10.1111/aos.16190
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- Publication type:
- Article
Comparison of a preservative‐free bimatoprost 0.01% ophthalmic gel with a preserved bimatoprost 0.01% ophthalmic solution: A phase III, randomized, multicentre, 3‐month study.
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- Acta Ophthalmologica (1755375X), 2024, v. 102, p. N.PAG, doi. 10.1111/aos.16179
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- Publication type:
- Article
Sodium‐glucose cotransporter type 2 channel inhibitor: Breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b?
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- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 3, p. 199, doi. 10.1002/jmd2.12278
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- Publication type:
- Article
ATP6AP1‐CDG: Follow‐up and female phenotype.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 80, doi. 10.1002/jmd2.12104
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- Publication type:
- Article
Emotional and behavioural functioning in children with tyrosinaemia type 1.
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- Pediatric Endocrinology, Diabetes & Metabolism, 2024, v. 30, n. 1, p. 8, doi. 10.5114/pedm.2024.138666
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- Publication type:
- Article
Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland.
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- Pediatric Endocrinology, Diabetes & Metabolism, 2022, v. 28, n. 3, p. 207, doi. 10.5114/pedm.2022.116115
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- Publication type:
- Article
The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype.
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- Pediatric Endocrinology, Diabetes & Metabolism, 2022, v. 28, n. 2, p. 141, doi. 10.5114/pedm.2022.116116
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- Publication type:
- Article
NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy.
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- Metabolic Brain Disease, 2021, v. 36, n. 7, p. 2169, doi. 10.1007/s11011-021-00827-z
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- Publication type:
- Article
Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.
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- Metabolic Brain Disease, 2019, v. 34, n. 2, p. 641, doi. 10.1007/s11011-018-0357-5
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- Publication type:
- Article
Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?
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- Metabolic Brain Disease, 2018, v. 33, n. 1, p. 191, doi. 10.1007/s11011-017-0122-1
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- Publication type:
- Article
Noncoding sequence variants define a novel regulatory element in the first intron of the N‐acetylglutamate synthase gene.
- Published in:
- Human Mutation, 2021, v. 42, n. 12, p. 1624, doi. 10.1002/humu.24281
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- Publication type:
- Article
In-Depth Analysis of Hyaline Fibromatosis Syndrome Frameshift Mutations at the Same Site Reveal the Necessity of Personalized Therapy.
- Published in:
- Human Mutation, 2013, v. 34, n. 7, p. 1005, doi. 10.1002/humu.22324
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- Publication type:
- Article
S100B Protein but Not 3-Nitrotyrosine Positively Correlates with Plasma Ammonia in Patients with Inherited Hyperammonemias: A New Promising Diagnostic Tool?
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 6, p. 2411, doi. 10.3390/jcm12062411
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- Publication type:
- Article
COVID-19 Pandemic and Patients with Rare Inherited Metabolic Disorders and Rare Autoinflammatory Diseases—Organizational Challenges from the Point of View of Healthcare Providers.
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- Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 4862, doi. 10.3390/jcm10214862
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- Publication type:
- Article
Angiomodulatory properties of Rhodiola spp. and other natural antioxidants.
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- Central European Journal of Immunology, 2015, v. 40, n. 2, p. 249, doi. 10.5114/ceji.2015.52839
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- Publication type:
- Article
Inhibition of proliferation, migration and invasiveness of endothelial murine cells culture induced by resveratrol.
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- Central European Journal of Immunology, 2014, v. 39, n. 4, p. 449, doi. 10.5114/ceji.2014.47727
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- Publication type:
- Article
Hepatic glycogen storage diseases: pathogenesis, clinical symptoms and therapeutic management.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Infantile sialic acid storage disease (ISSD): Report of the first case detected in Poland.
- Published in:
- Pediatrics International, 2003, v. 45, n. 2, p. 199, doi. 10.1046/j.1442-200X.2003.01693.x
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- Publication type:
- Article
Psychiatric Symptoms as the First or Solitary Manifestation of Somatic Illnesses: Hyperammonaemia Type II.
- Published in:
- Neuropsychobiology, 2021, v. 80, n. 3, p. 271, doi. 10.1159/000508679
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- Publication type:
- Article
Neurologic Presentation, Diagnostics, and Therapeutic Insights in a Severe Case of Adenylosuccinate Lyase Deficiency.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
- Published in:
- 2016
- By:
- Publication type:
- journal article