148 results on '"Mundy, Helen"'
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2. Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop
3. Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study
4. The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
5. Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre
6. Liver histology in children with glycogen storage disorders type VI and IX
7. Reversible Cerebral White Matter Abnormalities in Homocystinuria
8. The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria
9. Safety issues associated with dietary management in patients with hepatic glycogen storage disease
10. Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study
11. Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study
12. Solid organ transplantation in primary mitochondrial disease: Proceed with caution
13. Reversible Cerebral White Matter Abnormalities in Homocystinuria
14. Expanding the phenotype in argininosuccinic aciduria: need for new therapies
15. Three-Country Snapshot of Ornithine Transcarbamylase Deficiency
16. Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology
17. Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
18. ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy
19. Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency
20. Postauthorization safety study of betaine anhydrous
21. Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre
22. A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy
23. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population
24. Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene
25. Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation
26. The natural history of glycogen storage disease type Ib in England: A multisite survey
27. Molybdenum Cofactor Deficiency Presenting With a Parkinsonism-Dystonia Syndrome
28. Nutritional Therapy For Inherited Metabolic Liver Disease
29. Liver transplantation for propionic acidemia in children
30. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
31. Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: data from the E‐HOD registry
32. A child presenting with disordered consciousness, hallucinations, screaming episodes and abdominal pain
33. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
34. The regulation of growth in glycogen storage disease type 1
35. Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation
36. The natural history of glycogen storage disease type Ib in England: A multisite survey.
37. Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation
38. Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study
39. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load
40. Healthcare resource use and costs of managing children and adults with lysosomal acid lipase deficiency at a tertiary referral centre in the United Kingdom
41. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
42. Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature
43. An Unusual Cause of Progressive Ataxia and Devastating Seizure Disorder (S20.003)
44. LRPPRCmutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population
45. A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: a randomized double-blind cross-over study
46. The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype
47. Adenylosuccinate Lyase Deficiency in the United Kingdom Pediatric Population: First Three Cases
48. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
49. The glycogen storage diseases
50. Myocardial Fibrosis in Glycogen Storage Disease Type III
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