615 results on '"De Meirleir, Linda"'
Search Results
2. Comprehensive long‐term efficacy and safety of recombinant human alpha‐mannosidase (velmanase alfa) treatment in patients with alpha‐mannosidosis
3. Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
4. Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial
5. Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations
6. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
7. Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial
8. Pyruvate Carboxylase and Pyruvate Dehydrogenase Deficiency
9. Neurometabolic Crisis
10. Pyruvate Dehydrogenase-E1α Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation
11. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
12. Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients
13. Contributors
14. Approach to the Patient with a Metabolic Disorder
15. Access to early diagnostics, intervention, and support for children with a neurobiological developmental delay or disorder
16. Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases
17. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
18. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
19. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
20. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
21. Early treatment of a child with NAGS deficiency using N-carbamyl glutamate results in a normal neurological outcome
22. Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency
23. Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation
24. Treatment and long term outcome in West syndrome: The clinical reality. A multicentre follow up study
25. Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome
26. Phenotypic plasticity and the perception–action–cognition–environment paradigm in neurodevelopmental genetic disorders
27. Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl–tRNA Synthetase (NARS2)
28. Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: Improved survival by prompt diagnosis
29. Revised recommendations for the management of Gaucher disease in children
30. Complex III staining in blue native polyacrylamide gels
31. PRRT2 mutations: exploring the phenotypical boundaries
32. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
33. Neurometabolic Crisis
34. A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Ε1α gene
35. Early onset Huntington disease: a neuronal degeneration syndrome
36. Pyruvate Dehydrogenase-E1α Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation
37. Gas chromatographic–mass spectrometric analysis of N-acetylated amino acids: The first case of aminoacylase I deficiency
38. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
39. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
40. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
41. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases
42. Sanfilippo Syndrome Type D: Natural History and Identification of 3 Novel Mutations in the GNS Gene
43. Two Novel Mitochondrial DNA Mutations in Muscle Tissue of a Patient With Limb-Girdle Myopathy
44. A Novel Mitochondrial Transfer RNAAsn Mutation Causing Multiorgan Failure
45. Mitochondrial dysfunction in Brooks–Wisniewski–Brown syndrome
46. Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects : Clinical and biochemical responses
47. Research activity and capability in the European reference network MetabERN
48. Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses
49. Research activity and capability in the European reference network MetabERN
50. Clinical implementation of gene panel testing for lysosomal storage diseases
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.