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Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment

Children (Basel), 2021-06, Vol.8 (7), p.532

2021

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Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.17-17, Article 17

2021

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NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

American journal of human genetics, 2016-10, Vol.99 (4), p.894-902

2016

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Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations

Journal of human genetics, 2018-04, Vol.63 (4), p.473-485

2018

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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Orphanet journal of rare diseases, 2018-07, Vol.13 (1), p.120-120, Article 120

2018

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Perinatal manifestations of congenital disorders of glycosylation-A clue to early diagnosis

Frontiers in genetics, 2022-12, Vol.13, p.1019283-1019283

2022

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Metabolic encephalopathies in children: A pragmatic diagnostic approach based on literature analysis

Advances in clinical and experimental medicine : official organ Wroclaw Medical University, 2024-02, Vol.33 (11)

Rokicki, Dariusz

2024

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Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease

Nutrients, 2024-03, Vol.16 (6), p.812

2024

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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

Nutrients, 2023-04, Vol.15 (9), p.2112

2023

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NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy

Metabolic brain disease, 2021-10, Vol.36 (7), p.2169-2172

2021

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Differential Effects of Resveratrol on HECa10 and ARPE-19 Cells

Applied sciences, 2022-11, Vol.12 (22), p.11314

2022

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Reactive oxygen species and synthetic antioxidants as angiogenesis modulators: Clinical implications

Pharmacological reports, 2016-04, Vol.68 (2), p.462-471

2016

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S100B Protein but Not 3-Nitrotyrosine Positively Correlates with Plasma Ammonia in Patients with Inherited Hyperammonemias: A New Promising Diagnostic Tool?

Journal of clinical medicine, 2023-03, Vol.12 (6), p.2411

2023

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Early treatment of biotin–thiamine–responsive basal ganglia disease improves the prognosis

Molecular genetics and metabolism reports, 2021-12, Vol.29, p.100801, Article 100801

2021

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Treatment of Massive Labial and Gingival Hypertrophy in a Patient With Infantile Systemic Hyalinosis—A Case Report

Journal of oral and maxillofacial surgery, 2015-10, Vol.73 (10), p.1962.e1-1962.e5

2015

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COVID-19 Pandemic and Patients with Rare Inherited Metabolic Disorders and Rare Autoinflammatory Diseases—Organizational Challenges from the Point of View of Healthcare Providers

Journal of clinical medicine, 2021-10, Vol.10 (21), p.4862

2021

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Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations

Molecular genetics and metabolism reports, 2020-03, Vol.22, p.100559, Article 100559

2020

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Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience

Diagnostics (Basel), 2020-05, Vol.10 (5), p.297

2020

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Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis

Polish journal of pathology, 2019-01, Vol.70 (3), p.224-225

2019

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Sodium‐glucose cotransporter type 2 channel inhibitor: Breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b?

JIMD reports, 2022-05, Vol.63 (3), p.199-206

2022

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Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis

Polish journal of pathology, 2018-01, Vol.69 (3), p.292-298

2018

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ATP6AP1‐CDG: Follow‐up and female phenotype

JIMD reports, 2020-05, Vol.53 (1), p.80-82

2020

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Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria

Diagnostics (Basel), 2020-09, Vol.10 (10), p.738

2020

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Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?

Metabolic brain disease, 2018-02, Vol.33 (1), p.191-199

2018

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Neurologic Presentation, Diagnostics, and Therapeutic Insights in a Severe Case of Adenylosuccinate Lyase Deficiency

Journal of Child Neurology, 2012-05, Vol.27 (5), p.645-649

2012

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Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Perinatal manifestations of congenital disorders of glycosylation-A clue to early diagnosis

Metabolic encephalopathies in children: A pragmatic diagnostic approach based on literature analysis

Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease

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

NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy

Differential Effects of Resveratrol on HECa10 and ARPE-19 Cells

Reactive oxygen species and synthetic antioxidants as angiogenesis modulators: Clinical implications

S100B Protein but Not 3-Nitrotyrosine Positively Correlates with Plasma Ammonia in Patients with Inherited Hyperammonemias: A New Promising Diagnostic Tool?

Early treatment of biotin–thiamine–responsive basal ganglia disease improves the prognosis

Treatment of Massive Labial and Gingival Hypertrophy in a Patient With Infantile Systemic Hyalinosis—A Case Report

COVID-19 Pandemic and Patients with Rare Inherited Metabolic Disorders and Rare Autoinflammatory Diseases—Organizational Challenges from the Point of View of Healthcare Providers

Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations

Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience

Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis

Sodium‐glucose cotransporter type 2 channel inhibitor: Breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b?

Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis

ATP6AP1‐CDG: Follow‐up and female phenotype

Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria

Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?

Neurologic Presentation, Diagnostics, and Therapeutic Insights in a Severe Case of Adenylosuccinate Lyase Deficiency

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