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X-Linked Hypophosphatemia Transition and Team Management

Endocrines, 2022-07, Vol.3 (3), p.411-418

Kubota, Takuo

2022

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Promising horizons in achondroplasia along with the development of new drugs

Endocrine Journal, 2024, Vol.71(7), pp.643-650

2024

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Wnt signaling in bone metabolism

Journal of bone and mineral metabolism, 2009-05, Vol.27 (3), p.265-271

2009

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Incidence rate of vitamin D deficiency and FGF23 levels in 12- to 13-year-old adolescents in Japan

Journal of bone and mineral metabolism, 2021-05, Vol.39 (3), p.456-462

2021

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Prevalence of Pseudohypoparathyroidism and Nonsurgical Hypoparathyroidism in Japan in 2017: A Nationwide Survey

Journal of Epidemiology, 2023/11/05, Vol.33(11), pp.569-573

2023

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Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients

Calcified tissue international, 2020-03, Vol.106 (3), p.221-231

2020

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4-Phenylbutyric acid enhances the mineralization of osteogenesis imperfecta iPSC-derived osteoblasts

The Journal of biological chemistry, 2021-01, Vol.296, p.100027-100027, Article 100027

2021

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Assessment of body fat mass, anthropometric measurement and cardiometabolic risk in children and adolescents with achondroplasia and hypochondroplasia

Endocrine Journal, 2023, pp.EJ22-0477

2023

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Clinical Practice Guidelines for Hypophosphatasia

Clinical Pediatric Endocrinology, 2020, Vol.29(1), pp.9-24

2020

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Clinical performance of a novel chemiluminescent enzyme immunoassay for FGF23

Journal of bone and mineral metabolism, 2021-11, Vol.39 (6), p.1066-1075

2021

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Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types

PloS one, 2019-10, Vol.14 (10), p.e0222931-e0222931

2019

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Clinical Practice Guidelines for Achondroplasia

Clinical Pediatric Endocrinology, 2020, Vol.29(1), pp.25-42

2020

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Association of trabecular bone score and bone mineral apparent density with the severity of bone fragility in children and adolescents with osteogenesis imperfecta: A cross-sectional study

PloS one, 2023-08, Vol.18 (8), p.e0290812-e0290812

2023

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Pediatric drug development in Japan: Current issues and perspectives

Clinical Pediatric Endocrinology, 2020, Vol.29(1), pp.1-7

2020

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Mycophenolate Mofetil after Rituximab for Childhood-Onset Complicated Frequently-Relapsing or Steroid-Dependent Nephrotic Syndrome

Journal of the American Society of Nephrology, 2022-02, Vol.33 (2), p.401-419

2022

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Alkaline phosphatase in pediatric patients with genu varum caused by vitamin D-deficient rickets

Endocrine Journal, 2021, Vol.68(7), pp.807-815

2021

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Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia

Endocrine Journal, 2020, Vol.67(12), pp.1227-1232

2020

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Inconvenience and adaptation in Japanese adult achondroplasia and hypochondroplasia: A cross-sectional study

Clinical Pediatric Endocrinology, 2022, Vol.31(1), pp.18-24

2022

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Impact of fracture characteristics and disease-specific complications on health-related quality of life in osteogenesis imperfecta

Journal of bone and mineral metabolism, 2020-01, Vol.38 (1), p.109-116

2020

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CREB activation in hypertrophic chondrocytes is involved in the skeletal overgrowth in epiphyseal chondrodysplasia Miura type caused by activating mutations of natriuretic peptide receptor B

Human molecular genetics, 2019-04, Vol.28 (7), p.1183-1198

2019

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Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients

Endocrine Journal, 2019, Vol.66(1), pp.19-29

2019

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IGF‐I Signaling in Osterix‐Expressing Cells Regulates Secondary Ossification Center Formation, Growth Plate Maturation, and Metaphyseal Formation During Postnatal Bone Development

Journal of bone and mineral research, 2015-12, Vol.30 (12), p.2239-2248

2015

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An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene

PloS one, 2012-08, Vol.7 (8), p.e42180

2012

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Genetic correction of induced pluripotent stem cells mediated by transcription activator-like effector nucleases targeting ALPL recovers enzyme activity and calcification in vitro

Molecular genetics and metabolism, 2019-06, Vol.127 (2), p.158-165

2019

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Incidence rate and characteristics of symptomatic vitamin D deficiency in children: a nationwide survey in Japan

Endocrine Journal, 2018, Vol.65(6), pp.593-599

2018

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X-Linked Hypophosphatemia Transition and Team Management

Promising horizons in achondroplasia along with the development of new drugs

Wnt signaling in bone metabolism

Incidence rate of vitamin D deficiency and FGF23 levels in 12- to 13-year-old adolescents in Japan

Prevalence of Pseudohypoparathyroidism and Nonsurgical Hypoparathyroidism in Japan in 2017: A Nationwide Survey

Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients

4-Phenylbutyric acid enhances the mineralization of osteogenesis imperfecta iPSC-derived osteoblasts

Assessment of body fat mass, anthropometric measurement and cardiometabolic risk in children and adolescents with achondroplasia and hypochondroplasia

Clinical Practice Guidelines for Hypophosphatasia

Clinical performance of a novel chemiluminescent enzyme immunoassay for FGF23

Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types

Clinical Practice Guidelines for Achondroplasia

Association of trabecular bone score and bone mineral apparent density with the severity of bone fragility in children and adolescents with osteogenesis imperfecta: A cross-sectional study

Pediatric drug development in Japan: Current issues and perspectives

Mycophenolate Mofetil after Rituximab for Childhood-Onset Complicated Frequently-Relapsing or Steroid-Dependent Nephrotic Syndrome

Alkaline phosphatase in pediatric patients with genu varum caused by vitamin D-deficient rickets

Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia

Inconvenience and adaptation in Japanese adult achondroplasia and hypochondroplasia: A cross-sectional study

Impact of fracture characteristics and disease-specific complications on health-related quality of life in osteogenesis imperfecta

CREB activation in hypertrophic chondrocytes is involved in the skeletal overgrowth in epiphyseal chondrodysplasia Miura type caused by activating mutations of natriuretic peptide receptor B

Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients

IGF‐I Signaling in Osterix‐Expressing Cells Regulates Secondary Ossification Center Formation, Growth Plate Maturation, and Metaphyseal Formation During Postnatal Bone Development

An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene

Genetic correction of induced pluripotent stem cells mediated by transcription activator-like effector nucleases targeting ALPL recovers enzyme activity and calcification in vitro

Incidence rate and characteristics of symptomatic vitamin D deficiency in children: a nationwide survey in Japan

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