| Q33163684 | "Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation. |
| Q57666681 | 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency |
| Q44725507 | A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland |
| Q48113021 | A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa. |
| Q84823970 | A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency |
| Q43600254 | Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease. |
| Q57199717 | Abstracts |
| Q91828489 | Acute liver failure due to DGUOK deficiency-is liver transplantation justified? |
| Q53133170 | Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene. |
| Q58618777 | Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy |
| Q50922188 | Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome. |
| Q81190944 | Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies |
| Q48095458 | Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations. |
| Q41924164 | Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations |
| Q92541658 | Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations |
| Q43862163 | Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates. |
| Q92602842 | 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 |
| Q40118159 | Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes |
| Q47660679 | Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma |
| Q36824276 | Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing. |
| Q104516297 | Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance |
| Q51552393 | Four novel RSK2 mutations in females with Coffin-Lowry syndrome. |
| Q80448639 | G8363A mitochondrial DNA mutation is not a rare cause of Leigh syndrome - clinical, biochemical and pathological study of an affected child |
| Q48439076 | Ganglioglioma associated with alterations of NBN gene. A case report. |
| Q115205170 | Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants |
| Q53360422 | Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients. |
| Q49151106 | High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients |
| Q41936773 | High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study |
| Q90220167 | Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis |
| Q91839703 | Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis |
| Q48320467 | Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report |
| Q48308173 | Leigh disease due to SCO2 mutations revealed at extended autopsy. |
| Q64262855 | Leigh syndrome caused by mutations in is associated with a better prognosis |
| Q47718792 | Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development? |
| Q24648969 | Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease |
| Q37076751 | Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature |
| Q46353939 | Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background |
| Q84528736 | Molecular investigations of mitochondrial deletions: evaluating the usefulness of different genetic tests |
| Q57666846 | Molecular studies of Polish patients with respiratory chain complex I deficiency |
| Q50548334 | Monitoring of dipeptidyl peptidase-IV (DPP-IV) activity in patients with mucopolysaccharidoses types I and II on enzyme replacement therapy - Results of a pilot study. |
| Q28975764 | NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood |
| Q110764808 | NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy |
| Q50076536 | NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. |
| Q48211558 | Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease |
| Q34530586 | New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre |
| Q54440749 | Nijmegen breakage syndrome: Long-term monitoring of viral and immunological biomarkers in peripheral blood before development of malignancy. |
| Q36894743 | No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction |
| Q50856573 | Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy. |
| Q34519620 | Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure |
| Q49118213 | Proton MR Spectroscopy in Patients with Leigh Syndrome. |
| Q46834997 | Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. |
| Q34565079 | SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations |
| Q51648433 | SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome |
| Q42460422 | SURF1 missense mutations promote a mild Leigh phenotype. |
| Q33917493 | Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome |
| Q53381775 | The frequency of NBN molecular variants in pediatric astrocytic tumors. |
| Q93038170 | The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort |
| Q36334648 | The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies |
| Q46465843 | The molecular background of Leigh syndrome |
| Q43554914 | The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation |
| Q57666854 | The new molecular p.M177T identified in two unrelated patients with clinical features of SCO2-dependent cytochrome c oxidase deficiency |
| Q33800094 | Tyrosinemia type III in an asymptomatic girl |
| Q61763844 | Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening |
| Q35929393 | Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease. |