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A preterm newborn‐onset juvenile myelomonocytic leukemia‐like myeloproliferation with PTPN11 mutation

Pediatric blood & cancer, 2023-02, Vol.70 (2), p.e29915-n/a

2023

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Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan

Journal of inherited metabolic disease, 2022-05, Vol.45 (3), p.431-444

2022

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BCS1L mutations produce Fanconi syndrome with developmental disability

Journal of human genetics, 2022-03, Vol.67 (3), p.143-148

2022

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The earliest enzyme replacement for infantile‐onset Pompe disease in Japan

Pediatrics international, 2022-01, Vol.64 (1), p.e15286-n/a

2022

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Growth impairment in individuals with citrin deficiency

Journal of inherited metabolic disease, 2019-05, Vol.42 (3), p.501-508

2019

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Rapid and long‐lasting efficacy of high‐dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review

Molecular genetics & genomic medicine, 2024-04, Vol.12 (4), p.e2427-n/a

2024

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

Clinical Pediatric Endocrinology, 2020, Vol.29(2), pp.69-75

2020

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

American journal of medical genetics. Part A, 2017-02, Vol.173 (2), p.360-367

2017

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

Endocrine Journal, 2018, Vol.65(4), pp.449-459

2018

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Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome

American journal of medical genetics. Part A, 2013-01, Vol.161A (1), p.34-37

2013

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Current status of newborn screening for Pompe disease in Japan

Orphanet journal of rare diseases, 2021-12, Vol.16 (1), p.516-516, Article 516

2021

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Physical, cognitive, and social status of patients with urea cycle disorders in Japan

Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100724-100724, Article 100724

2021

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Case Report: Juvenile Myelomonocytic Leukemia Underlying Ornithine Transcarbamylase Deficiency Safely Treated Using Hematopoietic Stem Cell Transplantation

Frontiers in pediatrics, 2022-05, Vol.10, p.898531

2022

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

ENDOCRINE JOURNAL, 2018-04, Vol.65 (4), p.449-459

2018

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

Clinical Pediatric Endocrinology, 2014, Vol.23(2), pp.59-64

2014

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Hypospadias in a Male Patient with 21-hydroxylase Deficiency

Endocrine Journal, 2008, Vol.55(6), pp.1051-1054

2008

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

Clinical endocrinology (Oxford), 2011-05, Vol.74 (5), p.611-617

2011

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Reappraising newborn screening for cobalamin C disorder

Pediatrics and neonatology, 2018-08, Vol.59 (4), p.415-417

2018

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Biotin Deficiency in a Glycogen Storage Disease Type 1b Girl Fed Only with Glycogen Storage Disease-Related Formula

Pediatric dermatology, 2011-05, Vol.28 (3), p.339-341

2011

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Ultrasound Appearance of Thyroid Tissue in Hypothyroid Infants

The Journal of pediatrics, 2008-07, Vol.153 (1), p.101-104

2008

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

Clinical Pediatric Endocrinology, 2014-04, Vol.23 (2), p.59-64

2014

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Hypospadias in a Male Patient with 21-hydroxylase Deficiency

ENDOCRINE JOURNAL, 2008, Vol.55 (6), p.1051-1054

2008

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The immunoreactive signature of monocyte-derived dendritic cells from patients with Down syndrome

Clinical and experimental immunology, 2024-08, Vol.217 (3), p.291-299

2024

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

Pediatrics (Evanston), 2013-01, Vol.131 (1), p.e327

2013

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The signal transducer and activator of transcription 5B gene polymorphism contributes to the cholesterol metabolism in Japanese children with growth hormone deficiency: STAT5B gene and cholesterol metabolism in GHD children

Clinical endocrinology (Oxford), 2011-05, Vol.74 (5), p.611-617

2011

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A preterm newborn‐onset juvenile myelomonocytic leukemia‐like myeloproliferation with PTPN11 mutation

Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan

BCS1L mutations produce Fanconi syndrome with developmental disability

The earliest enzyme replacement for infantile‐onset Pompe disease in Japan

Growth impairment in individuals with citrin deficiency

Rapid and long‐lasting efficacy of high‐dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review

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

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

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

Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome

Current status of newborn screening for Pompe disease in Japan

Physical, cognitive, and social status of patients with urea cycle disorders in Japan

Case Report: Juvenile Myelomonocytic Leukemia Underlying Ornithine Transcarbamylase Deficiency Safely Treated Using Hematopoietic Stem Cell Transplantation

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

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

Hypospadias in a Male Patient with 21-hydroxylase Deficiency

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

Reappraising newborn screening for cobalamin C disorder

Biotin Deficiency in a Glycogen Storage Disease Type 1b Girl Fed Only with Glycogen Storage Disease-Related Formula

Ultrasound Appearance of Thyroid Tissue in Hypothyroid Infants

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

Hypospadias in a Male Patient with 21-hydroxylase Deficiency

The immunoreactive signature of monocyte-derived dendritic cells from patients with Down syndrome

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

The signal transducer and activator of transcription 5B gene polymorphism contributes to the cholesterol metabolism in Japanese children with growth hormone deficiency: STAT5B gene and cholesterol metabolism in GHD children

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