Kobayashi M - Search Results

1

No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the α-galactosidase A gene.

Kobayashi M, Ohashi T, Fukuda T, Yanagisawa T, Inomata T, Nagaoka T, Kitagawa T, Eto Y, Ida H, Kusano E. Kobayashi M, et al. Mol Genet Metab. 2012 Dec;107(4):711-5. doi: 10.1016/j.ymgme.2012.10.018. Epub 2012 Oct 24. Mol Genet Metab. 2012. PMID: 23146289

2

Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation.

Ida H, Rennert OM, Iwasawa K, Kobayashi M, Eto Y. Ida H, et al. Among authors: kobayashi m. Hum Genet. 1999 Jul-Aug;105(1-2):120-6. doi: 10.1007/s004399900076. Hum Genet. 1999. PMID: 10480365

3

Effects of enzyme replacement therapy in thirteen Japanese paediatric patients with Gaucher disease.

Ida H, Rennert OM, Kobayashi M, Eto Y. Ida H, et al. Among authors: kobayashi m. Eur J Pediatr. 2001 Jan;160(1):21-5. doi: 10.1007/pl00008411. Eur J Pediatr. 2001. PMID: 11195013

4

Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry.

Kitagawa T, Ishige N, Suzuki K, Owada M, Ohashi T, Kobayashi M, Eto Y, Tanaka A, Mills K, Winchester B, Keutzer J. Kitagawa T, et al. Among authors: kobayashi m. Mol Genet Metab. 2005 Jul;85(3):196-202. doi: 10.1016/j.ymgme.2005.01.007. Epub 2005 Apr 26. Mol Genet Metab. 2005. PMID: 15979031

5

Significance of screening for Fabry disease among male dialysis patients.

Ichinose M, Nakayama M, Ohashi T, Utsunomiya Y, Kobayashi M, Eto Y. Ichinose M, et al. Among authors: kobayashi m. Clin Exp Nephrol. 2005 Sep;9(3):228-32. doi: 10.1007/s10157-005-0369-4. Clin Exp Nephrol. 2005. PMID: 16189631

6

Retinochoroidal infarction during the treatment of acute lymphoblastic leukemia.

Kato Y, Takano Y, Kobayashi M, Ito F, Hara T, Yanagisawa T, Hoshi Y, Eto Y. Kato Y, et al. Among authors: kobayashi m. Pediatr Int. 2006 Oct;48(5):495-7. doi: 10.1111/j.1442-200X.2006.02245.x. Pediatr Int. 2006. PMID: 16970790 No abstract available.

7

Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease.

Kobayashi M, Ohashi T, Sakuma M, Ida H, Eto Y. Kobayashi M, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 3:483-7. doi: 10.1007/s10545-007-0740-6. Epub 2008 Jan 21. J Inherit Metab Dis. 2008. PMID: 18202903

8

Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes.

Kitagawa T, Suzuki K, Ishige N, Ohashi T, Kobayashi M, Eto Y, Tanaka A, Odaka H, Owada M. Kitagawa T, et al. Among authors: kobayashi m. Pediatr Nephrol. 2008 Sep;23(9):1461-71. doi: 10.1007/s00467-008-0846-6. Epub 2008 Jun 6. Pediatr Nephrol. 2008. PMID: 18535844

9

Extremely low-birthweight neonate with prenatal Campylobacter infection.

Nagashima T, Kobayashi M, Teramoto S, Okano E, Yokoi T, Eto Y. Nagashima T, et al. Among authors: kobayashi m. Pediatr Int. 2009 Oct;51(5):746-8. doi: 10.1111/j.1442-200X.2009.02898.x. Pediatr Int. 2009. PMID: 19799744 No abstract available.

10

Myeloschisis repair in a premature neonate with a birth weight of 599 g.

Oi S, Miwa T, Kobayashi M, Ida H. Oi S, et al. Among authors: kobayashi m. Pediatr Neurosurg. 2011;47(5):379-82. doi: 10.1159/000337348. Epub 2012 May 9. Pediatr Neurosurg. 2011. PMID: 22571956

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