32 results on '"Akaboshi, Shinjiro"'
Search Results
2. NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
3. Prevalence and clinical characteristics of children with medical complexity in Tottori Prefecture, Japan: A population-based longitudinal study
4. Clinical and genetic characteristics of patients with Doose syndrome
5. Prevalence and clinical characteristics of children with medical complexity in Tottori Prefecture, Japan: A population-based longitudinal study
6. Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms
7. Epilepsy in Peroxisomal Diseases
8. A case of atypical absence seizures induced by leuprolide acetate
9. Developmental and pathological expression of peroxisomal enzymes: their relationship of d-bifunctional protein deficiency and Zellweger syndrome
10. Multicenter, Open-Label, Randomized Controlled Trial of Warfarin and Edoxaban Tosilate Hydrate for the Treatment of Deep Vein Thrombosis in Persons with Severe Motor Intellectual Disabilities
11. Manifestations and characteristics of congenital adrenal hyperplasia-associated encephalopathy
12. Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination
13. Novel Subtype of Peroxisomal Acyl-CoA Oxidase Deficiency and Bifunctional Enzyme Deficiency with Detectable Enzyme Protein: Identification by Means of Complementation Analysis
14. Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1)
15. Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency
16. Forced normalization induced by ethosuximide therapy in a patient with intractable myoclonic epilepsy
17. Case of a mentally retarded child with non‐24 hour sleep–wake syndrome caused by deficiency of melatonin secretion
18. A Case of Høyeraal-Hreidarsson Syndrome: Delayed Myelination and Hypoplasia of Corpus Callosum are Other Important Signs
19. Unilateral Involuntary Movement Associated with Streptococcal Infection: Neurophysiological Investigation
20. Sonic hedgehog signal peptide mutation in a patient with holoprosencephaly
21. Transient extreme spindles in a case of subacute Mycoplasma pneumoniae encephalitis
22. Increased levels of GM2 ganglioside in fibroblasts from a patient with juvenile Niemann–Pick disease type C
23. Accumulation of cholesterol and GM2 ganglioside in cells cultured in the presence of progesterone: an implication for the basic defect in Niemann-Pick disease type C
24. Peroxisomal bifunctional enzyme deficiency: serial neurophysiological examinations of a case
25. Increased cerebral choline-compounds in Duchenne muscular dystrophy
26. Accumulation of GM2 Ganglioside in Niemann-Pick Disease Type C Fibroblasts.
27. The carbohydrate deficient glycoprotein syndrome in three Japanese children
28. Bile Acid Profiles in a Peroxisomal D-3-Hydroxyacyl-CoA Dehydratase/D-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency.
29. Ataxia-telangiectasia without immunodeficiency: Novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain
30. Increased cerebral cholinecompounds in Duchenne muscular dystrophy
31. [Polycystic ovary syndrome and hepatocellular adenoma related to long-term use of sodium valproate in a young woman].
32. [Photosensitivity in electroencephalogram of a child with 45, X/46, X, mar (X) Turner Syndrome].
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