29 results on '"Whybra, Catharina"'
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2. A single center experience in 90 cases with nonimmune hydrops fetalis: diagnostic categories ‒ mostly aneuploidy and still often idiopathic
3. Onset and progression of the Anderson–Fabry disease related cardiomyopathy
4. Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease
5. IgA nephropathy in two adolescent sisters heterozygous for Fabry disease
6. Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alfa in children and adolescents
7. Enzyme-replacement therapy with agalsidase alfa in children with fabry disease
8. Pattern of microstructural brain tissue alterations in Fabry disease: a diffusion-tensor imaging study
9. The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents
10. Non‐immune hydrops fetalis was rare in Sweden during 1997‐2015, but cases were associated with complications and poor prognosis
11. Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia
12. Cardiac manifestations of Anderson-Fabry disease in children and adolescents
13. Recurrent brief depression in a female patient with Fabry disease
14. Disease manifestations and X inactivation in heterozygous females with Fabry disease
15. Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey
16. Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF) - more common than assumed? Report of four cases with transient NIHF and a review of the literature
17. Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)
18. Cardiac manifestations of Anderson–Fabry disease in heterozygous females
19. Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653–5655delTAT, causing harlequin ichthyosis
20. Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)
21. Mucopolysaccharidosis Type VII (Sly disease) survivors
22. Measuring patient experiences in fabry disease: validation of the Fabry Outcome Survey (FOS) paediatric health and pain questionnaire
23. Paraoxonase (PON1) Gene Polymorphisms in Fabry Disease: Correlation with Renal Disease
24. A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease
25. Disease manifestations and X inactivation in heterozygous females with Fabry disease
26. Haplotype Block for Inflammatory Cytokine Gene Polymorphisms in Fabry Disease.
27. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease
28. The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.
29. An association study of inflammatory cytokine gene polymorphisms in Fabry disease.
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