574 results on '"Shimozawa, Nobuyuki"'
Search Results
102. Accumulation of glycolipids in mutant Chinese hamster ovary cells (Z65) with defective peroxisomal assembly and comparison of the metabolic rate of glycosphingolipids between Z65 cells and wild-type CHO-K1 cells
103. Polymerase chain reaction detection of two novel human N-acetylgalactosamine-6-sulfate sulfatase gene polymorphisms by single-strand conformation polymorphism analysis or by StyI and StuI cleavages
104. Profiling and Imaging of Phospholipids in Brains of Abcd1‐Deficient Mice
105. AB067. X-linked adrenoleukodystrophy: Phenotype and genotype in Vietnamese patients
106. Serial Monitoring of Plasma Levetiracetam Levels in a Child With Epilepsy Undergoing Cord Blood Transplantation
107. Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease
108. Profiling and Imaging of Phospholipids in Brains of <italic>Abcd1</italic>‐Deficient Mice.
109. Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine β-Synthase Deficiency
110. Retinal Ganglion Cell Loss in X-linked Adrenoleukodystrophy with anABCD1Mutation (Gly266Arg)
111. Evaluation of Fourier Transform Infrared Spectroscopy for Diagnosis of Peroxisomal Diseases with Abnormal Very-Long-Chain Fatty Acid Metabolism
112. Mutations of ABCD1 gene and phenotype of Vietnamese patients with X-linked adrenoleukodystrophy (X-ALD)
113. Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene
114. Changes in the amounts of myelin lipids and molecular species of plasmalogen PE in the brain of an autopsy case with d-bifunctional protein deficiency
115. Tysnd1 Deficiency in Mice Interferes with the Peroxisomal Localization of PTS2 Enzymes, Causing Lipid Metabolic Abnormalities and Male Infertility
116. Contiguous ABCD1 DXS1357E deletion syndrome: Report of an autopsy case
117. Molecular and clinical findings and diagnostic flowchart of peroxisomal diseases
118. Induction of peroxisomal lipid metabolism in mice fed a high-fat diet
119. ABC Subfamily D Proteins and Very Long Chain Fatty Acid Metabolism as Novel Targets in Adrenoleukodystrophy
120. Novel Subtype of Peroxisomal Acyl-CoA Oxidase Deficiency and Bifunctional Enzyme Deficiency with Detectable Enzyme Protein: Identification by Means of Complementation Analysis
121. X-linked adrenoleukodystrophy: Diagnostic and follow-up system in Japan
122. 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
123. Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophy
124. Parents of childhood X-linked adrenoleukodystrophy: High risk for depression and neurosis
125. Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients
126. Life-threatening cardiac involvement throughout life in a case of Costello syndrome
127. Carrier identification of X-linked adrenoleukodystrophy by measurement of very long chain fatty acids and lignoceric acid oxidation
128. Marinesco-Sjögren syndrome associated with acute mveloblastic leukemia
129. Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficiencies
130. Natural history of X-linked adrenoleukodystrophy in Japan
131. Molecular Mechanism of a Temperature-Sensitive Phenotype in Peroxisomal Biogenesis Disorder
132. Topical Review: Molecular and Neurologic Findings of Peroxisome Biogenesis Disorders
133. Baicalein 5,6,7-trimethyl ether, a flavonoid derivative, stimulates fatty acid β-oxidation in skin fibroblasts of X-linked adrenoleukodystrophy
134. Topical Review: Molecular and Neurologic Findings of Peroxisome Biogenesis Disorders
135. Identification of a new complementation group of the peroxisome biogenesis disorders andPEX14 as the mutated gene
136. Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders
137. Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L
138. Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: Evidence for a founder haplotype for the most common PEX10 gene mutation
139. Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7
140. Changes of Autonomic Nervous System Function in Patients With Breath-Holding Spells Treated With Iron
141. Phenotype‒genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p‒Pex6p interaction
142. Urinary organic acids in peroxisomal disorders: a simple screening method
143. The clinical course of childhood and adolescent adrenoleukodystrophy before and after Lorenzo's oil
144. Catalase-less Peroxisomes
145. Temperature-Sensitive Mutation of PEX6 in Peroxisome Biogenesis Disorders in Complementation Group C (CG-C): Comparative Study of PEX6 and PEX1
146. PEX3 Is the Causal Gene Responsible for Peroxisome Membrane Assembly–Defective Zellweger Syndrome of Complementation Group G
147. Rapid diagnosis of peroxisome biogenesis disorders through immunofluorescence staining of buccal smears
148. Congenital myotonic dystrophy: report of paternal transmission
149. Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans
150. Retinal Ganglion Cell Loss in X-linked Adrenoleukodystrophy with an ABCD1 Mutation (Gly266Arg).
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