370 results on '"Schwartz, Ida Vanessa Doederlein"'
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2. Potential use of other starch sources in the treatment of glycogen storage disease type Ia – an in vitro study
3. Follow-up of pre-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF
4. Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico
5. GBA1 variants in Brazilian Gaucher disease patients
6. Bone marrow burden score is not useful as a follow-up parameter in stable patients with type 1 Gaucher disease after 5 years of treatment
7. Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten‐year experience in a Brazilian center
8. Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases
9. Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing
10. Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up
11. Value of CSF Biomarkers in Predicting Risk of Progression from aMCI to ADD in a 5-Year Follow-Up Cohort
12. Attention-deficit hyperactivity disorder in Brazilian patients with phenylketonuria
13. Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil
14. Development of an inventory to assess perceived barriers related to PKU treatment
15. Assessment of cellular cobalamin metabolism in Gaucher disease
16. A PATIENT AND CAREGIVER CENTERED STUDY ON THE UNDERSTANDING OF CLASSICAL HOMOCYSTINURIA
17. PHENYLKETONURIA'S GENETIC LANDSCAPE IN BRAZIL
18. GENOME SEQUENCING FOR PATIENTS WITH SUSPECTED INHERITED METABOLIC DISEASES IN BRAZIL
19. GALACTOSE EPIMERASE DEFICIENCY IN LATIN AMERICA – UNVEILING NEW FEATURES?
20. MAY LYSOSOMAL-RELATED GENES BE LINKED TO ATYPICAL PARKINSONISM? A BRAZILIAN STUDY
21. LANDSCAPE OF INBORN ERRORS OF METABOLISM IN BRAZIL: DATA FROM THE BRAZILIAN RARE DISEASES NETWORK
22. A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study
23. Dificuldades alimentares em pacientes com Fenilcetonúria
24. Homocysteine and methylmalonic acid in Phenylketonuria patients
25. Feeding difficulties in patients with Phenylketonuria
26. KHK inhibition for the treatment of hereditary fructose intolerance and nonalcoholic fatty liver disease: a double-edged sword
27. Medical Costs Related to Enzyme Replacement Therapy for Mucopolysaccharidosis Types I, II, and VI in Brazil: A Multicenter Study
28. Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases
29. Are the Bacteria and Their Metabolites Contributing for Gut Inflammation on GSD-Ia Patients?
30. Medium-chain acyl-CoA dehydrogenase deficiency: prevalence of ACADM pathogenic variants c.985A>G and c.199T>C in a healthy population in Rio Grande do Sul, Brazil
31. Access to treatment for phenylketonuria by judicial means in Rio Grande do Sul, Brazil/Acesso ao tratamento para fenilcetonuria por via judicial no Rio Grande do Sul, Brasil
32. Availability of Genetic Tests in Public Health Services in Brazil: Data from the Brazilian Rare Diseases Network.
33. Efficacy and Safety of Taliglucerase Alfa for the Treatment of Gaucher Disease: A 9-Year Experience
34. Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs
35. A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease
36. Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases
37. Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey
38. Hipoventilação relacionada ao sono de origem central secundária à deficiência de biotinidase: relato de caso
39. Elevated holo-transcobalamin in Gaucher disease type II : a case report
40. Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient
41. Factors that increase risk for poor adherence to phenylketonuria treatment in Brazilian patients
42. A meta-analysis of enzyme replacement therapy in late-onset Pompe disease
43. SARS‐CoV‐2 pandemic in the Brazilian community of rare diseases: A patient reported survey
44. The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant
45. Efficacy of speech therapy in post-intubation patients with oropharyngeal dysphagia: a randomized controlled trial
46. Histomorphometric analysis of liver biopsies of treated patients with Gaucher disease type 1
47. Additional file 1 of Development of an inventory to assess perceived barriers related to PKU treatment
48. Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients
49. Introduction to the special issue on Clinical Genetics in Latin America
50. Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States
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