Found: 31
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Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
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
X-linked myxomatous valvular dystrophy in a patient with a novel mutation in the FLNA gene.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2023, v. 81, n. 3, p. 306, doi. 10.33963/KP.a2023.0017
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- Publication type:
- Article
The NBN founder mutation—Evidence for a country specific difference in age at cancer manifestation.
- Published in:
- Cancer Reports, 2023, v. 6, n. 2, p. 1, doi. 10.1002/cnr2.1700
- By:
- Publication type:
- Article
Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children—A Single Reference Center Experience.
- Published in:
- Genes, 2022, v. 13, n. 8, p. 1334, doi. 10.3390/genes13081334
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- Publication type:
- Article
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
- Published in:
- 2022
- By:
- Publication type:
- journal 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.
- Published in:
- Pediatric Endocrinology, Diabetes & Metabolism, 2022, v. 28, n. 2, p. 141, doi. 10.5114/pedm.2022.116116
- By:
- Publication type:
- Article
Clinical Presentation of Left Ventricular Noncompaction Cardiomyopathy and Bradycardia in Three Families Carrying HCN4 Pathogenic Variants.
- Published in:
- Genes, 2022, v. 13, n. 3, p. 477, doi. 10.3390/genes13030477
- By:
- Publication type:
- Article
Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
- Published in:
- Human Mutation, 2022, v. 43, n. 3, p. 403, doi. 10.1002/humu.24326
- By:
- Publication type:
- Article
Spectrum of Clinical Features and Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children.
- Published in:
- Cardiogenetics, 2021, v. 11, n. 4, p. 191, doi. 10.3390/cardiogenetics11040020
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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.
- Published in:
- Metabolic Brain Disease, 2021, v. 36, n. 7, p. 2169, doi. 10.1007/s11011-021-00827-z
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- Publication type:
- Article
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.
- Published in:
- Human Mutation, 2021, v. 42, n. 3, p. 310, doi. 10.1002/humu.24160
- By:
- Publication type:
- Article
The Indices of Cardiovascular Magnetic Resonance Derived Atrial Dynamics May Improve the Contemporary Risk Stratification Algorithms in Children with Hypertrophic Cardiomyopathy.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 4, p. 650, doi. 10.3390/jcm10040650
- By:
- Publication type:
- Article
HISTOPATHOLOGICAL LIVER FINDINGS IN PATIENTS WITH HEPATOCEREBRAL MITOCHONDRIAL DEPLETION SYNDROME WITH DEFINED MOLECULAR BASIS.
- Published in:
- 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
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 3, p. 515, doi. 10.1002/acn3.725
- By:
- Publication type:
- Article
HISTOPATHOLOGICAL LIVER FINDINGS IN PATIENTS WITH HEPATOCEREBRAL MITOCHONDRIAL DEPLETION SYNDROME WITH DEFINED MOLECULAR BASIS.
- Published in:
- 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
- By:
- Publication type:
- Article
Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?
- Published in:
- Metabolic Brain Disease, 2018, v. 33, n. 1, p. 191, doi. 10.1007/s11011-017-0122-1
- By:
- Publication type:
- Article
The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease.
- Published in:
- 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.
- Published in:
- Folia Neuropathologica, 2016, v. 54, n. 4, p. 405, doi. 10.5114/fn.2016.64819
- By:
- Publication type:
- Article
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
Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1647, doi. 10.1002/ajmg.a.37641
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- Publication type:
- Article
Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.
- Published in:
- Human Genetics, 2015, v. 134, n. 9, p. 951, doi. 10.1007/s00439-015-1578-x
- By:
- Publication type:
- Article
"Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation.
- Published in:
- Folia Neuropathologica, 2013, v. 51, n. 4, p. 347, doi. 10.5114/fn.2013.39726
- By:
- Publication type:
- Article
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 185, doi. 10.1007/s10545-010-9244-x
- By:
- Publication type:
- Article
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency in Poland.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 373, doi. 10.1007/s10545-010-9190-7
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- Publication type:
- Article
High Prevalence of Primary Ovarian Insufficiency in Girls and Young Women with Nijmegen Breakage Syndrome: Evidence from a Longitudinal Study.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 7, p. 3133, doi. 10.1210/jc.2009-2628
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- Publication type:
- Article
Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.
- Published in:
- Acta Neuropathologica, 2010, v. 119, n. 3, p. 325, doi. 10.1007/s00401-009-0608-y
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- Publication type:
- Article
The frequency of NBN molecular variants in pediatric astrocytic tumors.
- Published in:
- Journal of Neuro-Oncology, 2010, v. 96, n. 2, p. 161, doi. 10.1007/s11060-009-9958-5
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- Publication type:
- Article
Carrier frequency of mutation 657del5 in the NBS1 gene in a population of polish pediatric patients with sporadic lymphoid malignancies.
- Published in:
- International Journal of Cancer, 2006, v. 118, n. 5, p. 1269, doi. 10.1002/ijc.21439
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- Publication type:
- Article
Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 900, doi. 10.1038/sj.ejhg.5200554
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- Publication type:
- Article