Kojima-Ishii K - Search Results

1

De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.

Fukai R, Saitsu H, Okamoto N, Sakai Y, Fattal-Valevski A, Masaaki S, Kitai Y, Torio M, Kojima-Ishii K, Ihara K, Chernuha V, Nakashima M, Miyatake S, Tanaka F, Miyake N, Matsumoto N. Fukai R, et al. J Hum Genet. 2016 May;61(5):451-5. doi: 10.1038/jhg.2015.163. Epub 2016 Jan 14. J Hum Genet. 2016. PMID: 26763878

2

Biotin deficiency in a glycogen storage disease type 1b girl fed only with glycogen storage disease-related formula.

Ihara K, Abe K, Hayakawa K, Makimura M, Kojima-Ishii K, Hara T. Ihara K, et al. Pediatr Dermatol. 2011 May-Jun;28(3):339-41. doi: 10.1111/j.1525-1470.2011.01238.x. Epub 2011 Mar 3. Pediatr Dermatol. 2011. PMID: 21371115

3

The signal transducer and activator of transcription 5B gene polymorphism contributes to the cholesterol metabolism in Japanese children with growth hormone deficiency.

Makimura M, Ihara K, Kojima-Ishii K, Nozaki T, Ohkubo K, Kohno H, Kishimoto J, Hara T. Makimura M, et al. Clin Endocrinol (Oxf). 2011 May;74(5):611-7. doi: 10.1111/j.1365-2265.2011.03980.x. Clin Endocrinol (Oxf). 2011. PMID: 21470284

4

Coagulopathy in patients with late-onset ornithine transcarbamylase deficiency in remission state: a previously unrecognized complication.

Ihara K, Yoshino M, Hoshina T, Harada N, Kojima-Ishii K, Makimura M, Hasegawa Y, Watanabe Y, Yamaguchi S, Hara T. Ihara K, et al. Pediatrics. 2013 Jan;131(1):e327-30. doi: 10.1542/peds.2012-0030. Epub 2012 Dec 3. Pediatrics. 2013. PMID: 23209112

5

Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome.

Matsuo T, Ihara K, Ochiai M, Kinjo T, Yoshikawa Y, Kojima-Ishii K, Noda M, Mizumoto H, Misaki M, Minagawa K, Tominaga K, Hara T. Matsuo T, et al. Am J Med Genet A. 2013 Jan;161A(1):34-7. doi: 10.1002/ajmg.a.35657. Epub 2012 Dec 13. Am J Med Genet A. 2013. PMID: 23239432

6

Thyroid Follicular Carcinoma in a Fourteen-year-old Girl with Graves' Disease.

Kojima-Ishii K, Ihara K, Ohkubo K, Matsuo T, Toda N, Yamashita H, Kono S, Hara T. Kojima-Ishii K, et al. Clin Pediatr Endocrinol. 2014 Apr;23(2):59-64. doi: 10.1297/cpe.23.59. Epub 2014 Apr 20. Clin Pediatr Endocrinol. 2014. PMID: 24790388 Free PMC article.

7

Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan.

Toda N, Ihara K, Kojima-Ishii K, Ochiai M, Ohkubo K, Kawamoto Y, Kohno Y, Kumasaka S, Kawase A, Ueno Y, Futatani T, Miyazawa T, Nagaoki Y, Nakata S, Misaki M, Arai H, Kawai M, Sato M, Yada Y, Takahashi N, Komatsu A, Maki K, Watabe S, Sumida Y, Kuwashima M, Mizumoto H, Sato K, Hara T. Toda N, et al. Am J Med Genet A. 2017 Feb;173(2):360-367. doi: 10.1002/ajmg.a.38011. Epub 2016 Nov 7. Am J Med Genet A. 2017. PMID: 28102591 Free article.

8

Metabolic and immunological assessment of small-for-gestational-age children during one-year treatment with growth hormone: the clinical impact of apolipoproteins.

Kojima-Ishii K, Toda N, Okubo K, Tocan V, Ohyama N, Makimura M, Matsuo T, Ochiai M, Ohga S, Ihara K. Kojima-Ishii K, et al. Endocr J. 2018 Apr 26;65(4):449-459. doi: 10.1507/endocrj.EJ17-0485. Epub 2018 Feb 20. Endocr J. 2018. PMID: 29459555 Free article.

9

Malignant transformation of phosphaturic mesenchymal tumor: a case report and literature review.

Oyama N, Kojima-Ishii K, Toda N, Matsuo T, Tocan V, Ohkubo K, Oba U, Koga Y, Setsu N, Yamada Y, Kohashi K, Nakashima Y, Oda Y, Ihara K, Ohga S. Oyama N, et al. Among authors: kojima ishii k. Clin Pediatr Endocrinol. 2020;29(2):69-75. doi: 10.1297/cpe.29.69. Epub 2020 Apr 16. Clin Pediatr Endocrinol. 2020. PMID: 32313375 Free PMC article.

10

The earliest enzyme replacement for infantile-onset Pompe disease in Japan.

Tocan V, Mushimoto Y, Kojima-Ishii K, Matsuda A, Toda N, Toyomura D, Hirata Y, Sanefuji M, Sawada T, Sakai Y, Nakamura K, Ohga S. Tocan V, et al. Among authors: kojima ishii k. Pediatr Int. 2022 Jan;64(1):e15286. doi: 10.1111/ped.15286. Pediatr Int. 2022. PMID: 36074069

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