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Endocrine disorders in adult patients with inherited metabolic diseases: Their diagnosis and long‐term management.
- Published in:
- Clinical Endocrinology, 2024, v. 101, n. 5, p. 562, doi. 10.1111/cen.15100
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- Publication type:
- Article
Transition of patients with Gaucher disease type 1 from pediatric to adult care: results from two international surveys of patients and health care professionals.
- Published in:
- Frontiers in Pediatrics, 2024, p. 01, doi. 10.3389/fped.2024.1439236
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- Publication type:
- Article
Perspectives of Carers on the Move From a Hospital to a Transitional Care Unit.
- Published in:
- Qualitative Health Research, 2006, v. 16, n. 2, p. 189, doi. 10.1177/1049732305282441
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- Publication type:
- 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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- Publication type:
- Article
Sustainability as a determinant of cost management in the accounts of a manufacturing Industry.
- Published in:
- Global Journal of Environmental Science & Management (GJESM), 2019, v. 5, p. 151, doi. 10.22034/gjesm.2019.SI.17
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- Publication type:
- Article
Mesenchymal VEGFA induces aberrant differentiation in heterotopic ossification.
- Published in:
- Bone Research, 2019, v. 7, n. 1, p. 1, doi. 10.1038/s41413-019-0075-6
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- Publication type:
- Article
Cerebrospinal Fluid Penetration and Combination Therapy of Entrectinib for Disseminated ROS1/NTRK-Fusion Positive Pediatric High-Grade Glioma.
- Published in:
- Journal of Personalized Medicine, 2020, v. 10, n. 4, p. 1, doi. 10.3390/jpm10040290
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- Publication type:
- Article
The polymorphisms and haplotypes in the collagen type I alpha-1 gene in Polish football players with anterior cruciate ligament injury.
- Published in:
- Muscles, Ligaments & Tendons Journal (MLTJ), 2012, p. 69
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- Publication type:
- Article
Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England.
- Published in:
- 2021
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- Publication type:
- journal article
Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS).
- Published in:
- 2020
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- Publication type:
- journal article
The impact of a meal, snack, or not eating during the night shift on simulated driving performance post-shift.
- Published in:
- Scandinavian Journal of Work, Environment & Health, 2021, v. 47, n. 1, p. 78, doi. 10.5271/sjweh.3934
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- Publication type:
- Article
Hydrogen chemisorption on palladium surface in a high electric field.
- Published in:
- Optica Applicata, 2005, v. 35, n. 3, p. 375
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- Publication type:
- Article
Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency.
- Published in:
- Children, 2023, v. 10, n. 8, p. 1368, doi. 10.3390/children10081368
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- Publication type:
- Article
Children's thoughts on the social exclusion of peers with intellectual or learning disabilities.
- Published in:
- Journal of Intellectual Disability Research, 2014, v. 58, n. 4, p. 346, doi. 10.1111/jir.12019
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- Publication type:
- Article
Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02840-0
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- Publication type:
- Article
Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02796-1
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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.
- Published in:
- Proceedings of the Nutrition Society, 2008, v. 67, n. OCE5, p. N.PAG, doi. 10.1017/s0029665100590016
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- Publication type:
- Article
Transition of patients with Gaucher disease type 1 from pediatric to adult care: results from two international surveys of patients and health care professionals.
- Published in:
- Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1439236
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- Publication type:
- Article
Editorial: Inherited Protein Glycosylation Defects in Humans.
- Published in:
- 2022
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- Publication type:
- Editorial
GM1 Gangliosidosis—A Mini-Review.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.734878
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- Publication type:
- Article
Determination of sensitivity of the Electronic Stability Program Algorithm.
- Published in:
- Mechanics & Mechanical Engineering, 2017, v. 21, n. 4, p. 953
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- Publication type:
- Article
Experimental and Thermodynamic Study of Selected in-Situ Composites from the Fe-Cr-Ni-Mo-C System.
- Published in:
- Archives of Metallurgy & Materials, 2016, v. 61, n. 2, p. 1241, doi. 10.1515/amm-2016-0205
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- Publication type:
- Article
The Characterization Of Cast Fe-Cr-C Alloy.
- Published in:
- Archives of Metallurgy & Materials, 2015, v. 60, n. 2, p. 779, doi. 10.1515/amm-2015-0206
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- Publication type:
- Article
Microstructure of Cast Ni-Cr-Al-C Alloy.
- Published in:
- Archives of Metallurgy & Materials, 2015, v. 60, n. 1, p. 145, doi. 10.1515/amm-2015-0022
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- Publication type:
- Article
MANAGEMENT OF CASH FLOWS BETWEEN A DEBTOR AND A CREDITOR IN THE ENTERPRISE BANKRUPTCY PROCESS.
- Published in:
- Polish Journal of Management Studies, 2020, v. 22, n. 1, p. 43, doi. 10.17512/pjms.2020.22.1.03
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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.
- Published in:
- Clinical & Experimental Pharmacology & Physiology, 2003, v. 30, n. 7, p. 507, doi. 10.1046/j.1440-1681.2003.03859.x
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- Publication type:
- Article
Intellectual Disabilities and Neurocognitive Impairment in Adult Patients with Inherited Metabolic Diseases: A UK Single Centre Experience.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- Genes, 2020, v. 11, n. 11, p. 1383, doi. 10.3390/genes11111383
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- Publication type:
- Article
Validation of an automated ultraperformance liquid chromatography IgG N-glycan analytical method applicable to classical galactosaemia.
- Published in:
- 2018
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- Publication type:
- journal article
Caeruloplasmin oxidase activity: measurement in serum by use of o-dianisidine dihydrochloride on a microplate reader.
- Published in:
- 2018
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- Publication type:
- journal article
Lipoprotein X in a patient with cholestasis and hypertriglyceridaemia.
- Published in:
- 2013
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- Publication type:
- Case Study
Colloidal silver ingestion with copper and caeruloplasmin deficiency.
- Published in:
- 2012
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- Publication type:
- Case Study
Unintentional silver intoxication following self-medication: an unusual case of corticobasal degeneration.
- Published in:
- 2009
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- Publication type:
- Case Study
The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype.
- Published in:
- 2019
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- Publication type:
- journal article
Cryptosporidiosis in Patients with Colorectal Cancer.
- Published in:
- Journal of Parasitology, 2007, v. 93, n. 3, p. 722, doi. 10.1645/GE-1025R1.1
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- Publication type:
- Article
Angiogenesis of endocrine gland tumours - new molecular targets in diagnostics and therapy.
- Published in:
- European Journal of Endocrinology, 2002, v. 146, n. 2, p. 143, doi. 10.1530/eje.0.1460143
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- Publication type:
- Article
Umbilicoplasty in Abdominoplasty: Modifications for Improved Aesthetic Results.
- Published in:
- Aesthetic Surgery Journal Open Forum, 2021, v. 3, n. 3, p. 1, doi. 10.1093/asjof/ojab025
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- Publication type:
- Article
X-ray Diffraction and EBSD Study of Al-Ti-Co-Ni-Fe High-Entropy Alloy.
- Published in:
- Acta Physica Polonica: A, 2016, v. 130, n. 4, p. 991, doi. 10.12693/APhysPolA.130.991
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- Publication type:
- Article
Photoreceptor topography and cone-specific electroretinograms.
- Published in:
- Visual Neuroscience, 2004, v. 21, n. 3, p. 231, doi. 10.1017/S0952523804213268
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- Publication type:
- Article
Photoreceptor topography and cone-specific electroretinograms.
- Published in:
- Visual Neuroscience, 2004, v. 21, n. 3, p. 231, doi. 10.1017/s0952523804213268
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- Publication type:
- Article
NGF-TrkA signaling dictates neural ingrowth and aberrant osteochondral differentiation after soft tissue trauma.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25143-z
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- Publication type:
- Article
Subjective Hunger, Gastric Upset, and Sleepiness in Response to Altered Meal Timing during Simulated Shiftwork.
- Published in:
- Nutrients, 2019, v. 11, n. 6, p. 1352, doi. 10.3390/nu11061352
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- Publication type:
- Article
Genotype -specific versus pangenotypic regimens in patients infected with hepatitis C virus genotype 1b in real -world settings.
- Published in:
- Polish Archives of Internal Medicine, 2021, v. 131, n. 11, p. 1, doi. 10.20452/pamw.16094
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- Publication type:
- Article
Carnitine palmitoyltransferase II deficiency and post-COVID vaccination rhabdomyolysis.
- Published in:
- QJM: An International Journal of Medicine, 2021, v. 114, n. 8, p. 596, doi. 10.1093/qjmed/hcab077
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- Publication type:
- Article
Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 5, p. 1465, doi. 10.3390/jcm13051465
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- Publication type:
- Article
Airway and Anaesthetic Management of Adult Patients with Mucopolysaccharidoses Undergoing Cardiac Surgery.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 5, p. 1366, doi. 10.3390/jcm13051366
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- Publication type:
- Article
Healthcare Transition in Inherited Metabolic Disorders—Is a Collaborative Approach between US and European Centers Possible?
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 19, p. 5805, doi. 10.3390/jcm11195805
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- Publication type:
- Article
Hyo-Mental Angle and Distance: An Important Adjunct in Airway Assessment of Adult Mucopolysaccharidosis.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 4924, doi. 10.3390/jcm10214924
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- Publication type:
- Article
Review of Mechanisms, Pharmacological Management, Psychosocial Implications, and Holistic Treatment of Pain in Fabry Disease.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 18, p. 4168, doi. 10.3390/jcm10184168
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- Publication type:
- Article