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Non‐syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 4, p. 505, doi. 10.1111/cge.14573
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- Publication type:
- Article
Experimental and Thermodynamic Study of Selected in-Situ Composites from the Fe-Cr-Ni-Mo-C System.
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- Archives of Metallurgy & Materials, 2016, v. 61, n. 2, p. 1241, doi. 10.1515/amm-2016-0205
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- Article
The Characterization Of Cast Fe-Cr-C Alloy.
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- Archives of Metallurgy & Materials, 2015, v. 60, n. 2, p. 779, doi. 10.1515/amm-2015-0206
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- Article
Microstructure of Cast Ni-Cr-Al-C Alloy.
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- Archives of Metallurgy & Materials, 2015, v. 60, n. 1, p. 145, doi. 10.1515/amm-2015-0022
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- Publication type:
- Article
Subjective Hunger, Gastric Upset, and Sleepiness in Response to Altered Meal Timing during Simulated Shiftwork.
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- Nutrients, 2019, v. 11, n. 6, p. 1352, doi. 10.3390/nu11061352
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- Article
Carnitine palmitoyltransferase II deficiency and post-COVID vaccination rhabdomyolysis.
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- QJM: An International Journal of Medicine, 2021, v. 114, n. 8, p. 596, doi. 10.1093/qjmed/hcab077
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- Article
X-ray Diffraction and EBSD Study of Al-Ti-Co-Ni-Fe High-Entropy Alloy.
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- Acta Physica Polonica: A, 2016, v. 130, n. 4, p. 991, doi. 10.12693/APhysPolA.130.991
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- Article
Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810573
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- Article
Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 12, p. 4564, doi. 10.3390/ijms21124564
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- Article
Pulmonary embolism complicating the course of COVID-19 -- an underestimated condition?
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- Medical Studies / Studia Medyczne, 2020, v. 36, n. 3, p. 206, doi. 10.5114/ms.2020.99542
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- Publication type:
- Article
Pilot study examining the effect of cholesterol lowering on platelet nitric oxide responsiveness and arterial stiffness in subjects with isolated mild hypercholesterolaemia.
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- Clinical & Experimental Pharmacology & Physiology, 2003, v. 30, n. 7, p. 507, doi. 10.1046/j.1440-1681.2003.03859.x
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- Article
Intellectual Disabilities and Neurocognitive Impairment in Adult Patients with Inherited Metabolic Diseases: A UK Single Centre Experience.
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- Genes, 2024, v. 15, n. 7, p. 923, doi. 10.3390/genes15070923
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- Publication type:
- Article
Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders.
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- Genes, 2023, v. 14, n. 4, p. 803, doi. 10.3390/genes14040803
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- Publication type:
- Article
Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series.
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- Genes, 2020, v. 11, n. 11, p. 1383, doi. 10.3390/genes11111383
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- Publication type:
- Article
Mesenchymal VEGFA induces aberrant differentiation in heterotopic ossification.
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- Bone Research, 2019, v. 7, n. 1, p. 1, doi. 10.1038/s41413-019-0075-6
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- Article
Photoreceptor topography and cone-specific electroretinograms.
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- Visual Neuroscience, 2004, v. 21, n. 3, p. 231, doi. 10.1017/S0952523804213268
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- Article
Photoreceptor topography and cone-specific electroretinograms.
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- Visual Neuroscience, 2004, v. 21, n. 3, p. 231, doi. 10.1017/s0952523804213268
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- Publication type:
- Article
GM1 Gangliosidosis—A Mini-Review.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.734878
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- Article
Angiogenesis of endocrine gland tumours - new molecular targets in diagnostics and therapy.
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- European Journal of Endocrinology, 2002, v. 146, n. 2, p. 143, doi. 10.1530/eje.0.1460143
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- Publication type:
- Article
PURIFICATION AND KINETIC PROPERTIES OF ATP: CITRATE OXALOACETATE LYASE FROM RAT BRAIN.
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- Journal of Neurochemistry, 1975, v. 25, n. 1, p. 11, doi. 10.1111/j.1471-4159.1975.tb07687.x
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- Article
Oxygen separating membrane manufactured from BaSrCoFeO perovskite-like material.
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- Bulletin of Materials Science, 2015, v. 38, n. 1, p. 23, doi. 10.1007/s12034-014-0809-4
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- Article
CKM gene polymorphism in Russian and Polish rowers.
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- Russian Journal of Genetics, 2015, v. 51, n. 3, p. 318, doi. 10.1134/S1022795415030023
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- Article
Retreatment of symptomatic hepatitis C virus genotype 3 associated mixed cryoglobulinemia with sofosbuvir and ribavirin: a case report.
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- Clinical & Experimental Hepatology, 2018, v. 4, n. 2, p. 100, doi. 10.5114/ceh.2018.75960
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- Publication type:
- Article
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.
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- Diagnostics (2075-4418), 2021, v. 11, n. 8, p. 1438, doi. 10.3390/diagnostics11081438
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- Article
NGF-TrkA signaling dictates neural ingrowth and aberrant osteochondral differentiation after soft tissue trauma.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25143-z
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- Article
CLINICAL PRACTICE GUIDELINES FOR CLOSTRIDIOIDES (CLOSTRIDIUM) DIFFICILE INFECTION AND FECAL MICROBIOTA TRANSPLANT PROTOCOL - RECOMMENDATIONS OF THE POLISH SOCIETY OF EPIDEMIOLOGY AND INFECTIOUS DISEASES.
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- Epidemiological Review / Przegląd Epidemiologiczny, 2020, v. 74, n. 1, p. 69, doi. 10.32394/pe.74.06
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- Article
Genotype -specific versus pangenotypic regimens in patients infected with hepatitis C virus genotype 1b in real -world settings.
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- Polish Archives of Internal Medicine, 2021, v. 131, n. 11, p. 1, doi. 10.20452/pamw.16094
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- Article
Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02840-0
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- Article
Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02796-1
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- Article
The Investigation of Strain-Induced Martensite Reverse Transformation in AISI 304 Austenitic Stainless Steel.
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- Metallurgical & Materials Transactions. Part A, 2017, v. 48, n. 10, p. 4999, doi. 10.1007/s11661-017-4228-1
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- Publication type:
- Article
Evidence for a long time-course adaptation of glucose metabolism to high-protein feeding in rats without major changes in energy expenditure.
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- Proceedings of the Nutrition Society, 2008, v. 67, n. OCE5, p. N.PAG, doi. 10.1017/s0029665100590016
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- Article
HORMONAL DYSFUNCTION IN ADULT PATIENTS AFFECTED WITH INHERITED METABOLIC DISORDERS.
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- Journal of Mother & Child, 2020, v. 24, n. 2, p. 21, doi. 10.34763/jmotherandchild.20202402si.2018.000005
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- Article
Determination of sensitivity of the Electronic Stability Program Algorithm.
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- Mechanics & Mechanical Engineering, 2017, v. 21, n. 4, p. 953
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- Article
Editorial: Inherited Protein Glycosylation Defects in Humans.
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- 2022
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- Publication type:
- Editorial
Hydrogen chemisorption on palladium surface in a high electric field.
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- Optica Applicata, 2005, v. 35, n. 3, p. 375
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- Article
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
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- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 220, doi. 10.1002/jimd.12717
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- Article
A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1106, doi. 10.1002/jimd.12556
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- Article
Clinical and molecular characterization of adult patients with late‐onset MTHFR deficiency.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 777, doi. 10.1002/jimd.12323
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- Article
Bone mineral density is within normal range in most adult phenylketonuria patients.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 251, doi. 10.1002/jimd.12177
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- Article
Challenges in diagnosing and managing adult patients with urea cycle disorders.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1136, doi. 10.1002/jimd.12096
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- Publication type:
- Article
Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency.
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- Children, 2023, v. 10, n. 8, p. 1368, doi. 10.3390/children10081368
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- Article
Sustainability as a determinant of cost management in the accounts of a manufacturing Industry.
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- Global Journal of Environmental Science & Management (GJESM), 2019, v. 5, p. 151, doi. 10.22034/gjesm.2019.SI.17
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- Article
The relationship between alertness and spatial attention under simulated shiftwork.
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- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-71800-6
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- Article
Cryptosporidiosis in Patients with Colorectal Cancer.
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- Journal of Parasitology, 2007, v. 93, n. 3, p. 722, doi. 10.1645/GE-1025R1.1
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- Article
Bioelectrical phase angle values in a clinical sample of ambulatory rehabilitation patients.
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- Dynamic Medicine, 2008, v. 7, p. 1, doi. 10.1186/1476-5918-7-14
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- Article
Commentary.
- Published in:
- Clinical Chemistry, 2015, v. 61, n. 8, p. 1031, doi. 10.1373/clinchem.2014.236844
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- Article
A Woman with Primary Biliary Cirrhosis and Hyponatremia.
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- Clinical Chemistry, 2015, v. 61, n. 8, p. 1028, doi. 10.1373/clinchem.2014.229773
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- Article
The natural history of glycogen storage disease type Ib in England: A multisite survey.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 52, doi. 10.1002/jmd2.12200
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- Article
Three‐year follow up of using combination therapy with fresh‐frozen plasma and iron chelation in a patient with acaeruloplasminemia.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 23, doi. 10.1002/jmd2.12176
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- Article
Long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency.
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- Journal of Inherited Metabolic Disease Reports, 2019, v. 46, n. 1, p. 4, doi. 10.1002/jmd2.12016
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- Publication type:
- Article