Researcher profile · Semantic Scholar

M. Itoh

h-index: 7
Works: 22
Citations: 192

Most-cited papers

A novel mutation in the monocarboxylate transporter 8 gene in a boy with putamen lesions and low free T4 levels in cerebrospinal fluid.
H. Kakinuma, M. Itoh, Hiroaki Takahashi
2005Jornal de Pediatria68 citations
Semantic Scholar
Clinical features of insulinoma in patients with multiple endocrine neoplasia type 1: analysis of the database of the MEN Consortium of Japan.
A. Sakurai, M. Yamazaki, Shin-ichi Suzuki, T. Fukushima +13 more
2012Endocrine journal46 citations Open access
Semantic Scholar
Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision)
Keisuke Nagasaki, K. Minamitani, Akie Nakamura, Hironori Kobayashi +6 more
2022Clinical Pediatric Endocrinology28 citations Open access
Semantic Scholar
Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis
Hideo Sasai, Y. Aoyama, Hiroki Otsuka, Elsayed Abdelkreem +9 more
2017Journal of Inherited Metabolic Disease12 citations
Semantic Scholar
Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions
K. Matsubara, M. Itoh, K. Shimizu, Shinji Saito +7 more
2019Clinical Epigenetics11 citations Open access
Semantic Scholar
Intermittent X‐linked thrombocytopenia with a novel WAS gene mutation
T. Wada, M. Itoh, Hideaki Maeba, T. Toma +3 more
2014Pediatric Blood & Cancer8 citations
Semantic Scholar
An inherited disorder characterized by repeated episodes of bilateral ballism: A case report
H. Kakinuma, A. Hori, M. Itoh, Tsuneyuki Nakamura +1 more
2007Movement Disorders7 citations
Semantic Scholar
A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family
M. Itoh, Yuko Kittaka, Y. Niida, Y. Saikawa
2016Clinical Pediatric Endocrinology4 citations Open access
Semantic Scholar
Tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1a
M. Itoh, Michiko Okajima, Yuko Kittaka, A. Yachie +2 more
2022Bone Reports2 citations Open access
Semantic Scholar
A novel MEN1 mutation in a Japanese adolescent with multiple endocrine neoplasia type 1
M. Itoh, Y. Saikawa
2017Clinical Pediatric Endocrinology2 citations Open access
Semantic Scholar
Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature
Y. Niida, H. Sato, M. Ozaki, M. Itoh +2 more
2016Cytogenetic and Genome Research2 citations
Semantic Scholar
Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi +3 more
2025Developmental Dynamics1 citations Open access
Semantic Scholar
158 A PATIENT WITH HYPOGLYCEMIC SEIZURE AFTER LONG-TERM TREATMENT OF ANTIBIOTICS CONJUGATED WITH PIVARATE.
M. Itoh, H. Kakinuma, Hiroaki Takahashi
20021 citations
Semantic Scholar
Three pediatric cases of symptomatic hyponatremia in Prader–Willi syndrome
Yuji Oto, N. Murakami, Ryo Nakagawa, M. Itoh +2 more
2022Journal of Pediatric Endocrinology & Metabolism (JPEM)0 citations
Semantic Scholar
AB076. Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis
Hideo Sasai, Y. Aoyama, Hiroki Otsuka, Elsayed Abdelkreem +9 more
20170 citations
Semantic Scholar
Teri Lear, PhD (1951-2016)
P. Ráb, C. F. Yano, S. Lavoué, O. I. Jegede +71 more
2016Cytogenetic and Genome Research0 citations
Semantic Scholar
Contents Vol. 149, 2016
P. Ráb, C. F. Yano, S. Lavoué, O. I. Jegede +71 more
2016Cytogenetic and Genome Research0 citations Open access
Semantic Scholar
REPETITIVE AXIAL MYOCLONUS IN A BOY WITH THE MCT8 GENE MUTATION
H. Kakinuma, M. Itoh, Hiroaki Takahashi, A. Hori
20060 citations
Semantic Scholar
55 GROWTH RRESPONSE TO GROWTH HORMONE
M. Satoh, Y. Naiki, M. Itoh, K. Yoshimura +5 more
20030 citations
Semantic Scholar
運動ストレスによる免疫能(natural killer cell活性)低下と微量元素による回復 (特集微量元素研究 up-to-date) -- (免疫機能における微量元素の栄養と毒)
美恵子木村, M. Itoh, Y. Naiki, Shoko Ikema +2 more
20030 citations
Semantic Scholar
A Ten-Year Old Male with Bromocriptine Resistant PRL and GH-Producing Huge Pituitary Adenoma
A. Maesaka, Jun-ichi Nagaishi, M. Itoh, Keisuke Nagasaki +4 more
20010 citations
Semantic Scholar
Lipohypertrophy in a Patient with Isolated Growth Hormone Deficiency Type IA (IGHD IA) Treated with IGF-I
R. Horikawa, S. Ikema, A. Maesaka, M. Itoh +2 more
20010 citations
Semantic Scholar

R. Horikawa

×4

Hiroaki Takahashi×3

H. Sato×3

M. Ozaki×3

K. Ikeno×3

E. Takase×3

Toshiaki Tanaka×3

Keisuke Nagasaki×2