209 results on '"Besley, G. T. N."'
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2. Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study
3. The natural history of Niemann–Pick disease type C in the UK
4. Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation
5. Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex
6. Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy
7. Juvenile Sandhoff disease—Nine new cases and a review of the literature
8. Niemann–Pick disease: Sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant
9. Niemann–Pick disease type C in adults
10. Trifunctional protein deficiency: Three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation
11. Prenatal diagnosis of Canavan disease — Problems and dilemmas
12. Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita
13. Methylmalonic aciduria: Follow-up and enzymology on the original case after 36 years
14. First trimester diagnosis of Inherited Metabolic Disease: Experience in the UK
15. Preface
16. Preface
17. Generalised uridine diphosphate galactose-4-epimerase deficiency
18. Mitochondrial complex deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria
19. Fructose-1,6-bisphosphatase deficiency: Severe phenotype with normal leukocyte enzyme activity
20. Hexanol dehydrogenase activity shown by enzyme histochemistry on skin biopsies allows differentiation of Sjögren-Larsson syndrome from other ichthyoses
21. A case of the B1 variant of GM2-gangliosidosis
22. Depletion of Alcohol (Hexanol) Dehydrogenase Activity in the Epidermis and Jejunal Mucosa in Sjögren-Larsson Syndrome
23. Diagnosis of Hexosaminidase a Deficiency with Sulphated Substrate: Evidence for an alpha-Locus Genetic Compound in a Tay-Sachs Variant
24. Bile Acid Analyses in 'Pseudo-Zellweger' Syndrome; Clues to the Defect in Peroxisomal β-Oxidation
25. Prenatal Diagnosis of Inherited Metabolic Disease by Chorionic Villus Analysis: The Edinburgh Experience
26. The 35th Annual Symposium of the SSIEM – Göteborg 1997
27. Common MCAD mutation in a healthy parent of two affected siblings
28. Proceedings of the 4th international symposium on the neuronal ceroid-lipofuscinoses (Batten disease)
29. The Neuronal Ceroid Lipofuscinoses (Batten Disease). Edited by H. H. Goebel, S. E. Mole and B. D. Lake.
30. Peroxisomal Enzyme Deficiency in X-linked Dominant Conradi—Hünermann Syndrome
31. Organelle Diseases: clinical features, diagnosis, pathogenesis and management. Edited by D. A. Applegarth, J. E. Dimmick and J. G. Hall
32. Book review
33. Preface
34. Preface
35. Preface
36. Book review
37. Preface
38. Book review
39. Preface to short communications
40. Niemann-Pick disease type C with enhanced glycolipid storage: Report on further case of so-called lactosylceramidosis
41. Studies on sphingomyelinase activity in cultured cells and leucocytes
42. Phosphorylaseb kinase deficiency in glycogenosis type VIII: Differentiation of different phenotypes and heterozygotes by erythrocyte enzyme assay
43. The use of natural and artificial substrates in the prenatal diagnosis of Krabbe's disease
44. Enzyme activities and phospholipid storage patterns in brain and spleen samples from niemann-pick disease variants: a comparison of neuropathic and non-neuropathic forms
45. Somatic cell hybridisation studies showing different gene mutations in Niemann-Pick variants
46. Niemann-Pick disease type C: Study on the nature of the cerebral storage process
47. Niemann-Pick disease type B in an Irish family
48. Acid Esterase Deficiency: Comparison of Biochemical Findings in Infantile and Adult Forms
49. Dihydroxyacetone phosphate acyltransferase deficiency in peroxisomal disorders
50. Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis
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