Toru Uchiyama
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Explore the profile of Toru Uchiyama including associated specialties, affiliations and a list of published articles.
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Articles
72
Citations
403
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Recent Articles
1.
Hamanaka S, Uchiyama T, Kaname T, Matsui M, Yoshihashi H, Makimoto A, et al.
J Pediatr Clin Pract
. 2024 Dec;
14:200128.
PMID: 39629200
We present a case of X-linked thrombocytopenia (XLT) with a novel WAS gene variant expressing a normal amount of Wiskott-Aldrich syndrome protein (WASp) in lymphocytes. XLT usually decreases WASp expression...
2.
Tomomasa D, Takagi M, Watanabe R, Wakatsuki R, Miyamoto S, Hoshino A, et al.
Clin Immunol
. 2024 Nov;
270:110405.
PMID: 39592026
Adenosine deaminase (ADA) deficiency typically presents as a severe combined immunodeficiency in early infancy, although its onset may be delayed in some cases. We encountered two patients diagnosed with ADA...
3.
Tsuda S, Sakamoto A, Kawaguchi H, Uchiyama T, Kaname T, Yanagi K, et al.
Ann Hematol
. 2024 Nov;
103(12):5945-5950.
PMID: 39576359
GNE encodes a rate-limiting enzyme that regulates the biosynthesis of a sialic acid precursor. As sialic acids are critical for the platelet membrane and muscle fibers, GNE variants cause GNE-related...
4.
Shibata H, Nakajima D, Konno R, Hijikata A, Higashiguchi M, Nihira H, et al.
J Clin Immunol
. 2024 Oct;
45(1):33.
PMID: 39453496
Purpose: Newborn screening using dried blood spot (DBS) samples for the targeted measurement of metabolites and nucleic acids has made a substantial contribution to public healthcare by facilitating the detection...
5.
Ishiguro A, Uchiyama T, Sakamoto A, Kunishima S
Rinsho Ketsueki
. 2024 Sep;
65(8):747-755.
PMID: 39231703
Congenital thrombocytopenia/platelet disorders are heterogeneous disorders of platelet number and/or function. Pathogenic variants in the genes implicated in megakaryocyte differentiation and platelet formation cause thrombocytopenia in these patients. Recent advances...
6.
Sakamoto A, Uchiyama T, Futatsugi R, Ohara O, Iguchi A, Kaname T, et al.
Pediatr Blood Cancer
. 2024 Sep;
71(11):e31292.
PMID: 39228058
Background: The deletion region of 22q11.2 deletion syndrome (22q11.2DS) contains a gene encoding glycoprotein Ibβ (GPIbβ), which is required to express the GPIb/IX/V complex on the platelet surface. Therefore, patients...
7.
Sakamoto A, Uchiyama T, Kaname T, Iguchi A, Ohara O, Ishimura M, et al.
Br J Haematol
. 2024 Apr;
204(6):2400-2404.
PMID: 38650331
MYH9-related disorder (MYH9-RD) is characterized by congenital macrothrombocytopenia and granulocyte inclusion bodies. MYH9-RD is often misdiagnosed as chronic immune thrombocytopenia. In this study, we investigated age at definitive diagnosis and...
8.
Nagoshi R, Sakamoto A, Imai T, Uchiyama T, Kaname T, Kunishima S, et al.
Int J Hematol
. 2024 Apr;
120(1):142-145.
PMID: 38625506
Bernard-Soulier syndrome (BSS) is caused by defects in GP1BA, GP1BB, or GP9 genes. Patients with 22q11.2 deletion syndrome (22q11.2DS) are obligate carriers of BSS because GP1BB resides on chromosome 22q11.2....
9.
Fujimori K, Ikenobe N, Gocho Y, Uchiyama T, Deguchi T, Sakaguchi H, et al.
Pediatr Blood Cancer
. 2024 Feb;
71(5):e30919.
PMID: 38407463
No abstract available.
10.
Ikawa Y, Nakamura T, Fujino N, Uchiyama T, Ishiguro A, Takenaka M, et al.
Clin Case Rep
. 2024 Feb;
12(2):e8304.
PMID: 38314191
Key Clinical Message: A 15-year-old girl developed inherited cardiomyopathy and macrothrombocytopenia revealing pathogenic variants of both and genes. This underlies the importance of repeated genetic testing in diagnosing and managing...