Eto Y - Search Results

1

Mitochondrial encephalomyopathies preceded by de-Toni-Debré-Fanconi syndrome or focal segmental glomerulosclerosis.

Mochizuki H, Joh K, Kawame H, Imadachi A, Nozaki H, Ohashi T, Usui N, Eto Y, Kanetsuna Y, Aizawa S. Mochizuki H, et al. Among authors: eto y. Clin Nephrol. 1996 Nov;46(5):347-52. Clin Nephrol. 1996. PMID: 8953126

2

Focal segmental glomerulosclerosis in a patient with Prader-Willi syndrome.

Mochizuki H, Joh K, Matsuyama N, Imadachi A, Usui N, Eto Y. Mochizuki H, et al. Among authors: eto y. Clin Nephrol. 2000 Mar;53(3):212-5. Clin Nephrol. 2000. PMID: 10749301

3

Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing.

Hasegawa Y, Kawame H, Ida H, Ohashi T, Eto Y. Hasegawa Y, et al. Among authors: eto y. Hum Genet. 1994 Apr;93(4):415-20. doi: 10.1007/BF00201666. Hum Genet. 1994. PMID: 7909527

4

[Molecular analysis of Japanese patients with metachromatic leukodystrophy].

Hasegawa Y, Kawame H, Eto Y. Hasegawa Y, et al. Among authors: eto y. Nihon Rinsho. 1993 Sep;51(9):2314-8. Nihon Rinsho. 1993. PMID: 8105116 Japanese.

5

Molecular screening of Japanese patients with Gaucher disease: phenotypic variability in the same genotypes.

Kawame H, Maekawa K, Eto Y. Kawame H, et al. Among authors: eto y. Hum Mutat. 1993;2(5):362-7. doi: 10.1002/humu.1380020507. Hum Mutat. 1993. PMID: 8257989

6

Gene therapy/cell therapy for lysosomal storage disease.

Eto Y, Ohashi T. Eto Y, et al. J Inherit Metab Dis. 2000 May;23(3):293-8. doi: 10.1023/a:1005692215317. J Inherit Metab Dis. 2000. PMID: 10863945

7

A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients.

Kawame H, Eto Y. Kawame H, et al. Among authors: eto y. Am J Hum Genet. 1991 Dec;49(6):1378-80. Am J Hum Genet. 1991. PMID: 1840477 Free PMC article.

8

Molecular analysis of Japanese Gaucher disease.

Ohashi T, Eto Y. Ohashi T, et al. Among authors: eto y. J Inherit Metab Dis. 1989;12(3):355-8. doi: 10.1007/BF01799241. J Inherit Metab Dis. 1989. PMID: 2575688 No abstract available.

9

Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease.

Eto Y, Kawame H, Hasegawa Y, Ohashi T, Ida H, Tokoro T. Eto Y, et al. Mol Cell Biochem. 1993 Feb 17;119(1-2):179-84. doi: 10.1007/BF00926869. Mol Cell Biochem. 1993. PMID: 8455580

10

Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy.

Hasegawa Y, Kawame H, Eto Y. Hasegawa Y, et al. Among authors: eto y. DNA Cell Biol. 1993 Jul-Aug;12(6):493-8. doi: 10.1089/dna.1993.12.493. DNA Cell Biol. 1993. PMID: 8101083

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