Atsuo Kikuchi

Tohoku University graduate school of medicine

Japan

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Articles (16)

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2025

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2025

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2025

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2024

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2024

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2024

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2023

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2023

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2022

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2021

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2021

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2021

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2021

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2021

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2021

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2020

Collaborators (12)

Hirohito Shima

Assistant Professor

Tohoku University

JAPAN

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Yasunobu Okamura

Assistant Professor

Tohoku University

JAPAN

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Yuki Sugiura

Keio University School of Medicine

JAPAN

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Fumiki Katsuoka

JAPAN

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Tomoyasu Noji

The Univeristy of Tokyo

JAPAN

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Hidetaka Niizuma

Assistant Professor

Tohoku University Hospital

JAPAN

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Akihito Otsuki

Tohoku University

JAPAN

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Jun Takayama

Assistant Professor

Tohoku University

JAPAN

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Hisao Yaoita

Tohoku University

JAPAN

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Kei Takahashi

Tohoku University

JAPAN

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Naoto Ishii

Tohoku University graduate school of medicine

JAPAN

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Keiko Nakayama

JAPAN

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Atsuo Kikuchi

Research Interests

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Articles (16)

Carnitine Deficiency Caused by Salcaprozic Acid Sodium Contained in Oral Semaglutide in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency

A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus

Functional non-coding variants in a TTTG microsatellite on chromosome 15q26.1 are a common genetic etiology of congenital hypothyroidism with thyroid gland in situ

A case of 49,XXXYY followed-up from infancy to adulthood with review of literature

Efficacy of rituximab for the treatment and prevention of autoimmunity in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia

Comprehensive genetic analysis for identification of monogenic disorders and selection of appropriate treatments in pediatric patients with persistent thrombocytopenia

Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility

A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor

Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus

Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference

A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes

The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan

A case of adult-onset type II citrullinemia triggered by entering a nursing home with a good response to medium-chain triglyceride oil therapy

A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder

Electroencephalographic findings and genetic characterization of two brothers with IQSEC2 pathogenic variant

Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome

Collaborators (12)

Hirohito Shima

Yasunobu Okamura

Yuki Sugiura

Fumiki Katsuoka

Tomoyasu Noji

Hidetaka Niizuma

Akihito Otsuki

Jun Takayama

Hisao Yaoita

Kei Takahashi

Naoto Ishii

Keiko Nakayama

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