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Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross‐sectional survey.
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- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 6, p. 450, doi. 10.1002/jmd2.12456
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- Article
Retrospective analysis of arginase 1 deficiency progression in adults over 5 years at a single metabolic centre.
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- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 6, p. 382, doi. 10.1002/jmd2.12450
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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
Phase Response Relationships between Light Pulses and the Melatonin Rhythm in Rats.
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- Journal of Biological Rhythms, 2001, v. 16, n. 3, p. 234, doi. 10.1177/074873040101600306
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- Article
Cerebrospinal Fluid Penetration and Combination Therapy of Entrectinib for Disseminated ROS1/NTRK-Fusion Positive Pediatric High-Grade Glioma.
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- Journal of Personalized Medicine, 2020, v. 10, n. 4, p. 1, doi. 10.3390/jpm10040290
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- 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
THE PRINCIPLES OF THE TRANSITION PROCESS FROM PAEDIATRIC TO ADULT SERVICES IN INBORN ERRORS OF METABOLISM - OWN EXPERIENCE.
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- Developmental Period Medicine, 2015, v. 19, n. 4, p. 523
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- Publication type:
- Article
VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY - DIAGNOSTIC DIFFICULTIES AND OWN EXPERIENCE IN MULTIDISCIPLINARY MANAGEMENT.
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- Developmental Period Medicine, 2015, v. 19, n. 4, p. 450
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- Publication type:
- 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
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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- 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
Perspectives of Carers on the Move From a Hospital to a Transitional Care Unit.
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- Qualitative Health Research, 2006, v. 16, n. 2, p. 189, doi. 10.1177/1049732305282441
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- Article
Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review.
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- Journal of Clinical Medicine, 2020, v. 9, n. 8, p. 2596, doi. 10.3390/jcm9082596
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- Article
The Resident Classification Scale: Is it a valid measure of functional dependence?
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- Australasian Journal on Ageing, 2006, v. 25, n. 1, p. 42, doi. 10.1111/j.1741-6612.2006.00139.x
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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
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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- Publication type:
- 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
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
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
Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases.
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- Journal of Clinical Medicine, 2024, v. 13, n. 5, p. 1465, doi. 10.3390/jcm13051465
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- Article
Airway and Anaesthetic Management of Adult Patients with Mucopolysaccharidoses Undergoing Cardiac Surgery.
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- Journal of Clinical Medicine, 2024, v. 13, n. 5, p. 1366, doi. 10.3390/jcm13051366
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- Article
Healthcare Transition in Inherited Metabolic Disorders—Is a Collaborative Approach between US and European Centers Possible?
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- Journal of Clinical Medicine, 2022, v. 11, n. 19, p. 5805, doi. 10.3390/jcm11195805
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- Article
Hyo-Mental Angle and Distance: An Important Adjunct in Airway Assessment of Adult Mucopolysaccharidosis.
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- Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 4924, doi. 10.3390/jcm10214924
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- Article
Review of Mechanisms, Pharmacological Management, Psychosocial Implications, and Holistic Treatment of Pain in Fabry Disease.
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- Journal of Clinical Medicine, 2021, v. 10, n. 18, p. 4168, doi. 10.3390/jcm10184168
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- Article
Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score.
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- Journal of Clinical Medicine, 2021, v. 10, n. 15, p. 3275, doi. 10.3390/jcm10153275
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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
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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- 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
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
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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- Publication type:
- 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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- 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.
- 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
Validation of an automated ultraperformance liquid chromatography IgG N-glycan analytical method applicable to classical galactosaemia.
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- 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.
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- 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.
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- 2009
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- Publication type:
- Case Study
Galactose epimerase deficiency: lessons from the GalNet registry.
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- 2022
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- Publication type:
- journal article
One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN.
- Published in:
- 2022
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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
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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- Article
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
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- Epilepsia (Series 4), 2023, v. 64, n. 6, p. 1612, doi. 10.1111/epi.17596
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- Publication type:
- Article