Hara K - Search Results

1

Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.

Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Hata I, Shigematsu Y, Kobayashi M. Tajima G, et al. Among authors: hara k. Mol Genet Metab. 2016 Dec;119(4):322-328. doi: 10.1016/j.ymgme.2016.10.007. Epub 2016 Oct 21. Mol Genet Metab. 2016. PMID: 27856190

2

Successful treatment of Kasabach-Merritt syndrome with vincristine and diagnosis of the hemangioma using three-dimensional imaging.

Hara K, Yoshida T, Kajiume T, Ohno N, Kawaguchi H, Kobayashi M. Hara K, et al. Pediatr Hematol Oncol. 2009 Jul-Aug;26(5):375-80. doi: 10.1080/08880010902976643. Pediatr Hematol Oncol. 2009. PMID: 19579084

3

Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.

Shirao K, Okada S, Tajima G, Tsumura M, Hara K, Yasunaga S, Ohtsubo M, Hata I, Sakura N, Shigematsu Y, Takihara Y, Kobayashi M. Shirao K, et al. Among authors: hara k. Hum Genet. 2010 Jun;127(6):619-28. doi: 10.1007/s00439-010-0822-7. Epub 2010 Apr 8. Hum Genet. 2010. PMID: 20376488 Review.

4

Management of advanced-stage neuroblastoma in a patient with 21-hydroxalase deficiency.

Utsunomiya AN, Okada S, Hara K, Miki M, Mizoguchi Y, Kobayashi Y, Miyagawa S, Jinno K, Nakamura K, Sato T, Kobayashi M. Utsunomiya AN, et al. Among authors: hara k. Pediatr Int. 2013 Aug;55(4):e96-9. doi: 10.1111/ped.12093. Pediatr Int. 2013. PMID: 23910817

5

Clinical characteristics of perinatal lethal hypophosphatasia: a report of 6 cases.

Nakamura-Utsunomiya A, Okada S, Hara K, Miyagawa S, Takeda K, Fukuhara R, Nakata Y, Hayashidani M, Tachikawa K, Michigami T, Ozono K, Kobayashi M. Nakamura-Utsunomiya A, et al. Among authors: hara k. Clin Pediatr Endocrinol. 2010 Jan;19(1):7-13. doi: 10.1297/cpe.19.7. Epub 2010 Mar 11. Clin Pediatr Endocrinol. 2010. PMID: 23926372 Free PMC article.

6

Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.

Hara K, Tajima G, Okada S, Tsumura M, Kagawa R, Shirao K, Ohno Y, Yasunaga S, Ohtsubo M, Hata I, Sakura N, Shigematsu Y, Takihara Y, Kobayashi M. Hara K, et al. Mol Genet Metab. 2016 May;118(1):9-14. doi: 10.1016/j.ymgme.2015.12.011. Epub 2015 Dec 29. Mol Genet Metab. 2016. PMID: 26947917

7

Adipsic hypernatremia without hypothalamic lesions accompanied by autoantibodies to subfornical organ.

Hiyama TY, Utsunomiya AN, Matsumoto M, Fujikawa A, Lin CH, Hara K, Kagawa R, Okada S, Kobayashi M, Ishikawa M, Anzo M, Cho H, Takayasu S, Nigawara T, Daimon M, Sato T, Terui K, Ito E, Noda M. Hiyama TY, et al. Among authors: hara k. Brain Pathol. 2017 May;27(3):323-331. doi: 10.1111/bpa.12409. Epub 2016 Aug 2. Brain Pathol. 2017. PMID: 27338632 Free PMC article.

8

Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly.

Deswal S, Bijarnia-Mahay S, Manocha V, Hara K, Shigematsu Y, Saxena R, Verma IC. Deswal S, et al. Among authors: hara k. Indian J Pediatr. 2017 Jan;84(1):83-85. doi: 10.1007/s12098-016-2227-7. Epub 2016 Sep 1. Indian J Pediatr. 2017. PMID: 27581592

9

A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency.

Ikeda N, Maruyama S, Nakano K, Imakiire R, Ninomiya Y, Seki S, Yanagimoto K, Kakihana Y, Hara K, Tajima G, Okamoto Y, Kawano Y. Ikeda N, et al. Among authors: hara k. Mol Genet Metab Rep. 2017 May 9;11:69-71. doi: 10.1016/j.ymgmr.2017.04.010. eCollection 2017 Jun. Mol Genet Metab Rep. 2017. PMID: 28529889 Free PMC article.

10

Late-onset ornithine transcarbamylase deficiency associated with hyperammonemia.

Daijo K, Kawaoka T, Nakahara T, Nagaoki Y, Tsuge M, Hiramatsu A, Imamura M, Kawakami Y, Aikata H, Hara K, Tajima G, Kobayashi M, Chayama K. Daijo K, et al. Among authors: hara k. Clin J Gastroenterol. 2017 Aug;10(4):383-387. doi: 10.1007/s12328-017-0753-0. Epub 2017 Jun 9. Clin J Gastroenterol. 2017. PMID: 28597413

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