43 results on '"Wortmann, Saskia B"'
Search Results
2. Beyond genetics: Deciphering the impact of missense variants in CAD deficiency
3. Patient‐reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire study
4. MOGS‐ CDG: Quantitative analysis of the diagnosticGlc 3 Mantetrasaccharide and clinical spectrum of six new cases
5. How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
6. Mitochondrial Disease and Hearing Loss in Children: A Systematic Review
7. Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes
8. Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease
9. Congenital disorders of glycosylation with defective fucosylation
10. Mutations inHID1Cause Syndromic Infantile Encephalopathy and Hypopituitarism
11. Austrian study shows that delays in accessing acute paediatric health care outweighed the risks of COVID‐19
12. Ketogenic diet for treating alopecia in BCS1l‐related mitochondrial disease (Bjornstad syndrome)
13. Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction
14. Mutation of the WARS2 Gene as the Cause of a Severe Hyperkinetic Movement Disorder
15. Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease
16. Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
17. Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype
18. Choline‐related‐inherited metabolic diseases—A mini review
19. Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients
20. “Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing
21. The role of the clinician in the multi-omics era: are you ready?
22. Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases
23. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations
24. Whole exome sequencing of suspected mitochondrial patients in clinical practice
25. High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders
26. Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids
27. Perinatal and early infantile symptoms in congenital disorders of glycosylation
28. 3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients
29. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature
30. Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression
31. MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking
32. The 3‐methylglutaconic acidurias: what's new?
33. Refractory severe intestinal vasculitis due to Henoch-Schönlein Purpura: successful treatment with plasmapheresis
34. MOGS-CDG: Quantitative analysis of the diagnostic Glc 3 Man tetrasaccharide and clinical spectrum of six new cases.
35. A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
36. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
37. Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?
38. Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?
39. SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).
40. High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders.
41. Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.
42. Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect.
43. The 3-methylglutaconic acidurias: what's new?
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.