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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
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- Publication type:
- journal article
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
- Published in:
- Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2016, v. 160, n. 1, p. 161, doi. 10.5507/bp.2016.006
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- Publication type:
- Article
DEFICYT FOSFORYBOZYLOTRANSFERAZY HIPOKSANTYNOGUANINOWEJ - KLINICZNA, BIOCHEMICZNA ORAZ MOLEKULARNA CHARAKTERYSTYKA PACJENTÓW.
- Published in:
- Przeglad Pediatryczny, 2008, v. 38, n. 3, p. 227
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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
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
- Published in:
- 2022
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- Publication type:
- journal article
Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 12, p. 4564, doi. 10.3390/ijms21124564
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- Publication type:
- Article
The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.
- Published in:
- 2017
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- Publication type:
- journal article
Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.
- Published in:
- Nephrology Dialysis Transplantation, 2021, v. 36, n. 8, p. 1484, doi. 10.1093/ndt/gfaa178
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- Publication type:
- Article
The Indices of Cardiovascular Magnetic Resonance Derived Atrial Dynamics May Improve the Contemporary Risk Stratification Algorithms in Children with Hypertrophic Cardiomyopathy.
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- Journal of Clinical Medicine, 2021, v. 10, n. 4, p. 650, doi. 10.3390/jcm10040650
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- Publication type:
- Article
Clinical heterogeneity of polish patients with KAT6B–related disorder.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2265
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- Publication type:
- Article
The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1263
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- Publication type:
- Article
11p15 duplication and 13q34 deletion with Beckwith- Wiedemann syndrome and factor VII deficiency.
- Published in:
- Pediatrics International, 2015, v. 57, n. 3, p. 486, doi. 10.1111/ped.12611
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- Publication type:
- Article
Spectrum of Clinical Features and Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children.
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- Cardiogenetics, 2021, v. 11, n. 4, p. 191, doi. 10.3390/cardiogenetics11040020
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- Publication type:
- Article
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
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- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01019-9
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- Publication type:
- Article
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
- Published in:
- PLoS ONE, 2023, v. 18, n. 7, p. 1, doi. 10.1371/journal.pone.0288907
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- Publication type:
- Article
A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 72, doi. 10.1002/ajmg.a.37964
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- Publication type:
- 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
A girl with two syndromes: Turner syndrome and Costello syndrome. A case history.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1486, doi. 10.1002/ajmg.a.35320
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- Publication type:
- Article
Carvajal syndrome related to two distinct molecular variants in desmoplakin gene.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2024, v. 82, n. 9, p. 914, doi. 10.33963/v.phj.101664
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- Publication type:
- Article
X-linked myxomatous valvular dystrophy in a patient with a novel mutation in the FLNA gene.
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- 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
Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.
- Published in:
- 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?
- Published in:
- Metabolic Brain Disease, 2018, v. 33, n. 1, p. 191, doi. 10.1007/s11011-017-0122-1
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- Publication type:
- Article
The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.
- Published in:
- 2019
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- Publication type:
- journal article
Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Sodium‐glucose cotransporter type 2 channel inhibitor: Breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b?
- Published in:
- 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
Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders.
- Published in:
- PLoS ONE, 2020, v. 15, n. 9, p. 1, doi. 10.1371/journal.pone.0238796
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- Publication type:
- Article
Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.
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- Molecular Vision, 2021, v. 27, p. 457
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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
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 3, p. 515, doi. 10.1002/acn3.725
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- Publication type:
- 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
Deficyt cytrynu – patogeneza, obraz kliniczny i biochemiczny, diagnostyka, leczenie.
- Published in:
- Advances in Biochemistry / Postepy Biochemii, 2021, v. 67, n. 2, p. 157, doi. 10.18388/pb.2021_381
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- Publication type:
- Article
POLG gene mutation. Clinico-neuropathological study.
- Published in:
- Folia Neuropathologica, 2020, v. 58, n. 4, p. 386, doi. 10.5114/fn.2020.102441
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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
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 853, doi. 10.1007/s10545-017-0057-z
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- Publication type:
- Article
Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 929, doi. 10.1007/s10545-013-9584-4
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- 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
Differences between predicted and established diagnoses of Smith‐Lemli‐Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 241, doi. 10.1007/s10545-010-9132-4
- 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
DCDC2 -Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases.
- Published in:
- Diagnostics (2075-4418), 2023, v. 13, n. 11, p. 1917, doi. 10.3390/diagnostics13111917
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- Publication type:
- Article
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 8, p. 1438, doi. 10.3390/diagnostics11081438
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- Publication type:
- Article
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
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
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
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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
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- Publication type:
- Article
Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders.
- Published in:
- Genes, 2023, v. 14, n. 4, p. 803, doi. 10.3390/genes14040803
- 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
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
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- Publication type:
- Article