620 results on '"Wortmann, Saskia B"'
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2. Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing
3. Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b
4. Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop
5. The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study
6. Disorders of Complex Lipids
7. 3-Methylglutaconic Acidurias
8. Genomic Approaches for the Diagnosis of Inborn Errors of Metabolism
9. Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children
10. Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially
11. Clinical implementation of RNA sequencing for Mendelian disease diagnostics
12. The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear
13. Genetic landscape of pediatric acute liver failure of indeterminate origin
14. Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
15. PIGG variant pathogenicity assessment reveals characteristic features within 19 families
16. Response to Kulseth
17. New Cases of Maleylacetoacetate Isomerase Deficiencywith Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center
18. Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value‐based healthcare approach and systematic benefit‐risk assessment
19. Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
20. Monogenic variants in dystonia: an exome-wide sequencing study
21. Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation
22. The role of clinical response to treatment in determining pathogenicity of genomic variants
23. Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia
24. Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
25. Genetic landscape of pediatric acute liver failure of indeterminate origin
26. PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening
27. Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey
28. Hearing Rehabilitation in Patients with SERAC1 Related MEGD(H)EL Syndrome
29. A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria
30. Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome
31. Correction to: Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety
32. Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app
33. Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes
34. Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety
35. Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus
36. Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency
37. Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients
38. New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center.
39. Beyond genetics: Deciphering the impact of missense variants in CAD deficiency
40. SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission
41. Molecular structural diversity of mitochondrial cardiolipins
42. Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?
43. Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration
44. Next-Generation-Sequenzierung – Next-Generation-Qualität in der Pädiatrie
45. Chapter 25 - Mitochondrial DNA-encoded defects
46. KCNT2-related disorders: phenotypes, functional and pharmacological properties
47. Response to Biesecker et al.
48. Investigating the role of ASCC1 in the causation of bone fragility
49. Case Report—An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions
50. Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors
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