574 results on '"Shimozawa, Nobuyuki"'
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2. Hypomorphic mutation of PEX3 with peroxisomal mosaicism reveals the oscillating nature of peroxisome biogenesis coupled with differential metabolic activities
3. Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan
4. Zebrafish model of human Zellweger syndrome reveals organ-specific accumulation of distinct fatty acid species and widespread gene expression changes
5. Diagnosis of Peroxisomal Disorders
6. Model Organisms for Understanding Peroxisomal Disorders
7. Peroxisomal Disorders
8. Hexacosenoyl-CoA is the most abundant very long-chain acyl-CoA in ATP binding cassette transporter D1-deficient cells
9. Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy
10. Allogeneic stem cell transplantation with reduced intensity conditioning for patients with adrenoleukodystrophy
11. Effect of Lorenzo’s Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in abcd1-Deficient Mice
12. Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype
13. Positional determination of the carbon–carbon double bonds in unsaturated fatty acids mediated by solvent plasmatization using LC–MS
14. Biallelic mutation of HSD17B4 induces middle age–onset spinocerebellar ataxia
15. Detection of unusual very-long-chain fatty acid and ether lipid derivatives in the fibroblasts and plasma of patients with peroxisomal diseases using liquid chromatography-mass spectrometry
16. Human PEX19: cDNA Cloning by Functional Complementation, Mutation Analysis in a Patient with Zellweger Syndrome, and Potential Role in Peroxisomal Membrane Assembly
17. Expanding the concept of peroxisomal diseases and efficient diagnostic system in Japan
18. Human PEX1 Cloned by Functional Complementation on a CHO Cell Mutant is Responsible for Peroxisome-Deficient Zellweger Syndrome of Complementation Group I
19. A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein
20. Development of a system adapted for the diagnosis and evaluation of peroxisomal disorders by measuring bile acid intermediates
21. Analysis of five cases showing false-high Hemoglobin A1c due to reduced catalase activity
22. Molecular species profiles of plasma ceramides in different clinical types of X-linked adrenoleukodystrophy
23. Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy
24. Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis
25. A novel method for determining peroxisomal fatty acid β-oxidation
26. NovelABCD1mutation detected in a symptomatic female carrier of adrenoleukodystrophy
27. Effect of Lorenzo’s Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in abcd1-Deficient Mice
28. Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata
29. Novel ABCD1 mutation detected in a symptomatic female carrier of adrenoleukodystrophy
30. First Japanese case of Zellweger syndrome with a mutation in PEX14
31. Molecular Species of Phospholipids with Very Long Chain Fatty Acids in Skin Fibroblasts of Zellweger Syndrome
32. Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood
33. Low donor chimerism may be sufficient to prevent demyelination in adrenoleukodystrophy
34. Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disorders
35. Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes
36. sj-doc-2-cno-10.1177_2329048X211048613 - Supplemental material for Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review
37. sj-pdf-1-cno-10.1177_2329048X211048613 - Supplemental material for Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review
38. Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in Japan
39. Glycosphingolipids with Very Long-Chain Fatty Acids Accumulate in Fibroblasts from Adrenoleukodystrophy Patients
40. Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II
41. A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein
42. Contiguous ABCD1 DXS1357E deletion syndrome: Report of an autopsy case
43. Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation
44. Temperature sensitivity in peroxisome assembly processes characterizes milder forms of peroxisome biogenesis disorders
45. Very-long-chain fatty acid metabolism in adrenoleukodystrophy protein-deficient mice
46. A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling usher syndrome in the affected parents
47. Mild case of D-bifunctional protein deficiency associated with novel gene mutations
48. Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency
49. Clinical evaluation of childhood cerebral adrenoleukodystrophy with balint’s symptoms
50. Bone marrow transplantation into Abcd1‐deficient mice: Distribution of donor derived‐cells and biological characterization of the brain of the recipient mice
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