368 results on '"Stepien, Karolina M."'
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2. Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study
3. Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy
4. Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel
5. Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop
6. Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study
7. GM1 Gangliosidosis
8. Multiple Sulfatase Deficiency (MSD)
9. Non‐syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity
10. One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN
11. Galactose epimerase deficiency: lessons from the GalNet registry
12. Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross‐sectional survey.
13. Retrospective analysis of arginase 1 deficiency progression in adults over 5 years at a single metabolic centre.
14. Endocrine disorders in adult patients with inherited metabolic diseases: Their diagnosis and long‐term management.
15. Transition of patients with Gaucher disease type 1 from pediatric to adult care: results from two international surveys of patients and health care professionals.
16. Molecular basis of neurocognitive dysfunction and psychosis in Alpha-Mannosidosis
17. Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases
18. Contributors
19. Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency
20. Intellectual Disabilities and Neurocognitive Impairment in Adult Patients with Inherited Metabolic Diseases: A UK Single Centre Experience.
21. Airway and Anaesthetic Management of Adult Patients with Mucopolysaccharidoses Undergoing Cardiac Surgery
22. Brain function in classic galactosemia, a galactosemia network (GalNet) members review
23. Case series on patients with delayed diagnosis of mild/moderate alpha-mannosidosis
24. Alpha-mannosidosis international caregiver and patient survey: Changes in mobility, pain or discomfort, and patients' self-care over time
25. How many sulphatase deficiencies become multiple? The diagnostic challenges of multiple sulphatase deficiency
26. Patient-reported experiences during the SARS-CoV-2 (COVID-19): Results from a cross-sectional survey
27. Evaluation of long-term renal outcomes in Fabry disease: A single centre analysis
28. Service evaluation of respiratory tract dysfunction in adult Morquio syndrome (MPS IVA): A single tertiary multi-disciplinary centre experience
29. The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey
30. The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria
31. Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations
32. 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
33. Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1
34. Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease
35. The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency
36. Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency
37. Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)
38. A Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis
39. Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study
40. Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders
41. The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype
42. Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy
43. Neuropsychology assessment and outcomes in adult mucopolysaccharidosis – A systematic review as the first step to service development in a large tertiary Lysosomal Storage Disorders centre
44. Long-term clinical and biochemical outcomes in adult mucopolysaccharidosis type I Hurler Scheie and Scheie patients
45. Biochemical and clinical outcomes in childhood-onset and adult-onset cases with Gaucher disease type I
46. The biochemical and radiological evaluation of bone health in patients with mucopolysaccharidosis
47. Iron deficiency anaemia in adult mucopolysaccharidoses
48. A review of the clinical progression in six late onset Pompe disease (LOPD) patients following alglucosidase alfa cessation
49. Females with late onset Pompe disease: Clinical manifestations and rate of disease progression with no treatment
50. Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation
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