Keiichi Ozono

Keiichi Ozono

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Keiichi Ozono

Publications by authors named "Keiichi Ozono"

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Burden of Illness in Adults with Hypophosphatasia: Data from the Global Hypophosphatasia Patient Registry.

J Bone Miner Res 2020 Jul 12. Epub 2020 Jul 12.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.

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http://dx.doi.org/10.1002/jbmr.4130DOI Listing
July 2020

Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of .

J Endocr Soc 2020 May 2;4(5):bvaa041. Epub 2020 Apr 2.

Division of Diabetes and Endocrinology, Department of Internal Medicine, Daini Osaka Police Hospital, Karasugatsuji, Ten-noji, Osaka, Japan.

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http://dx.doi.org/10.1210/jendso/bvaa041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7192098PMC
May 2020

Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.

Calcif Tissue Int 2020 03 9;106(3):221-231. Epub 2019 Nov 9.

Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, 565-0871, Osaka, Japan.

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http://dx.doi.org/10.1007/s00223-019-00626-wDOI Listing
March 2020

Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy.

Am J Med Genet A 2020 03 19;182(3):454-460. Epub 2019 Dec 19.

Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

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http://dx.doi.org/10.1002/ajmg.a.61422DOI Listing
March 2020

Genetic and phenotypic landscape of the mitochondrial genome in the Japanese population.

Commun Biol 2020 Mar 5;3(1):104. Epub 2020 Mar 5.

Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, 565-0871, Japan.

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http://dx.doi.org/10.1038/s42003-020-0812-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058612PMC
March 2020

Phenotypes of a family with XLH with a novel mutation.

Hum Genome Var 2020 31;7. Epub 2020 Mar 31.

2Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

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http://dx.doi.org/10.1038/s41439-020-0095-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7109063PMC
March 2020

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

J Bone Miner Metab 2020 Jan 13;38(1):109-116. Epub 2019 Aug 13.

Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya, 466-8550, Japan.

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http://dx.doi.org/10.1007/s00774-019-01033-9DOI Listing
January 2020

Pediatric drug development in Japan: Current issues and perspectives.

Clin Pediatr Endocrinol 2020 9;29(1):1-7. Epub 2020 Jan 9.

Department of Pediatrics, Osaka University Medical Hospital, Osaka, Japan.

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http://dx.doi.org/10.1297/cpe.29.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6958521PMC
January 2020

Clinical Practice Guidelines for Hypophosphatasia.

Clin Pediatr Endocrinol 2020 9;29(1):9-24. Epub 2020 Jan 9.

Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

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http://dx.doi.org/10.1297/cpe.29.9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6958520PMC
January 2020

Clinical Practice Guidelines for Achondroplasia.

Clin Pediatr Endocrinol 2020 9;29(1):25-42. Epub 2020 Jan 9.

Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

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http://dx.doi.org/10.1297/cpe.29.25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6958518PMC
January 2020

Present status of prophylactic thyroidectomy in pediatric multiple endocrine neoplasia 2: a nationwide survey in Japan 1997-2017.

J Pediatr Endocrinol Metab 2019 Jun;32(6):585-595

Department of Pediatrics, Teikyo University Chiba Medical Center, 3426-3 Anesaki, Ichihara-shi, Chiba 299-0111, Japan.

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http://dx.doi.org/10.1515/jpem-2018-0444DOI Listing
June 2019

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

Mol Genet Metab 2019 06 28;127(2):158-165. Epub 2019 May 28.

Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.05.014DOI Listing
June 2019

Development of scoliosis in young children with osteogenesis imperfecta undergoing intravenous bisphosphonate therapy.

J Bone Miner Metab 2019 May 5;37(3):545-553. Epub 2018 Sep 5.

Department of Orthopedic Surgery, Faculty of Medicine, Graduate School of Medicine, Osaka University, 2-2 Yamadaoka, Suita, Osaka, 565-0871, Japan.

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http://dx.doi.org/10.1007/s00774-018-0952-xDOI Listing
May 2019

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.

Hum Mol Genet 2019 04;28(7):1183-1198

Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Izumi, Osaka, Japan.

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http://dx.doi.org/10.1093/hmg/ddy428DOI Listing
April 2019

Physical, Mental, and Social Problems of Adolescent and Adult Patients with Achondroplasia.

Calcif Tissue Int 2019 04 1;104(4):364-372. Epub 2019 Feb 1.

Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya, 466-8550, Japan.

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http://link.springer.com/10.1007/s00223-019-00518-z
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http://dx.doi.org/10.1007/s00223-019-00518-zDOI Listing
April 2019

Intestinal clock system regulates skeletal homeostasis.

JCI Insight 2019 03 7;4(5). Epub 2019 Mar 7.

Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Izumi, Osaka, Japan.

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http://dx.doi.org/10.1172/jci.insight.121798DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483519PMC
March 2019

Roles of Phosphate in Skeleton.

Front Endocrinol (Lausanne) 2019 26;10:180. Epub 2019 Mar 26.

Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.

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https://www.frontiersin.org/article/10.3389/fendo.2019.00180
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http://dx.doi.org/10.3389/fendo.2019.00180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443631PMC
March 2019

Clasmatodendrosis is associated with dendritic spines and does not represent autophagic astrocyte death in influenza-associated encephalopathy.

Brain Dev 2019 Jan 26;41(1):85-95. Epub 2018 Jul 26.

Department of Child Development, Osaka University United Graduate School of Child Development, Suita, Osaka, Japan; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2018.07.008DOI Listing
January 2019

Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D.

Am J Med Genet A 2018 12 21;176(12):2882-2886. Epub 2018 Nov 21.

Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

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http://dx.doi.org/10.1002/ajmg.a.40643DOI Listing
December 2018

Phosphate as a Signaling Molecule and Its Sensing Mechanism.

Physiol Rev 2018 10;98(4):2317-2348

Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Izumi, Osaka , Japan ; and Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka , Japan.

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http://dx.doi.org/10.1152/physrev.00022.2017DOI Listing
October 2018

Exonic deletions in are frequent in Japanese globoid-cell leukodystrophy patients.

Hum Genome Var 2018 5;5:28. Epub 2018 Oct 5.

3Child Healthcare and Genetic Science, Department of Health Science, Osaka University Graduate School of Medicine, Osaka, Japan.

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http://dx.doi.org/10.1038/s41439-018-0027-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6173723PMC
October 2018

Atypical auditory language processing in adolescents with autism spectrum disorder.

Clin Neurophysiol 2018 09 8;129(9):2029-2037. Epub 2018 Jun 8.

Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2018.05.014DOI Listing
September 2018

[ASBMR topics from clinical to translational research.]

Authors:
Keiichi Ozono

Clin Calcium 2018;28(1):117-121

Department of Pediatrics, Osaka University Graduate School of Medicine, Japan.

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http://dx.doi.org/CliCa1801117121DOI Listing
June 2018

Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation type.

J Hum Genet 2018 Jun 3;63(6):699-706. Epub 2018 Apr 3.

Department of Health Science, Child Healthcare and Genetic Science, Osaka University Graduate School of Medicine, Osaka, Japan.

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http://dx.doi.org/10.1038/s10038-018-0445-8DOI Listing
June 2018

Efficacy and safety of two doses of Norditropin (somatropin) in short stature due to Noonan syndrome: a 2-year randomized, double-blind, multicenter trial in Japanese patients.

Endocr J 2018 Feb 7;65(2):159-174. Epub 2017 Nov 7.

Thyroid and Endocrine Center, Fukushima Global Medical Science Center, Fukushima Medical University, Fukushima 960-1295, Japan.

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http://dx.doi.org/10.1507/endocrj.EJ17-0313DOI Listing
February 2018

Mycobacterium haemophilum osteomyelitis in the immunocompromised host.

Pediatr Int 2017 Dec 4;59(12):1279-1281. Epub 2017 Dec 4.

Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

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http://dx.doi.org/10.1111/ped.13426DOI Listing
December 2017

Slc3a2 Mediates Branched-Chain Amino-Acid-Dependent Maintenance of Regulatory T Cells.

Cell Rep 2017 Nov;21(7):1824-1838

Laboratory of Immune Regulation, Department of Microbiology and Immunology, Graduate School of Medicine, WPI Immunology Frontier Research Center, Osaka University, Suita, Osaka, Japan; Core Research for Evolutional Science and Technology, Japan Agency for Medical Research and Development, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2017.10.082DOI Listing
November 2017

[Regulatory mechanism of calcium metabolism.]

Authors:
Keiichi Ozono

Clin Calcium 2017;27(4):483-490

Department of Pediatrics Osaka University Graduate School of Medicine, Japan.

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http://dx.doi.org/CliCa1704483490DOI Listing
October 2017

Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.

Mol Genet Metab 2017 09 25;122(1-2):4-17. Epub 2017 Jul 25.

Department of Pediatrics, Osaka University, Suita, Osaka 565-0871, Japan.

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http://dx.doi.org/10.1016/j.ymgme.2017.07.010DOI Listing
September 2017

Endocrinological and phenotype evaluation in a patient with acrodysostosis.

Clin Pediatr Endocrinol 2017 27;26(3):177-182. Epub 2017 Jul 27.

Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

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http://dx.doi.org/10.1297/cpe.26.177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537214PMC
July 2017

Extracellular Phosphate Induces the Expression of Dentin Matrix Protein 1 Through the FGF Receptor in Osteoblasts.

J Cell Biochem 2017 05 10;118(5):1151-1163. Epub 2017 Jan 10.

Department of Bone and Mineral Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka 594-1101, Japan.

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http://dx.doi.org/10.1002/jcb.25742DOI Listing
May 2017

Serum calcitriol levels in a patient with X-linked hypophosphatemia complicated by autosomal dominant polycystic kidney disease.

CEN Case Rep 2017 May 22;6(1):29-35. Epub 2016 Oct 22.

Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita City, Osaka, 565-0871, Japan.

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http://dx.doi.org/10.1007/s13730-016-0238-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5438803PMC
May 2017

Listening to public concerns on vaccinations in order to provide information in a timely manner.

Vaccine 2017 03 8;35(10):1369. Epub 2016 Apr 8.

Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

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http://dx.doi.org/10.1016/j.vaccine.2016.03.103DOI Listing
March 2017

Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide.

Cold Spring Harb Mol Case Stud 2017 Jan;3(1):a001339

Division of Nutrition and Metabolic Diseases, Center for Human Nutrition, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA.

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http://dx.doi.org/10.1101/mcs.a001339DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5171694PMC
January 2017

Relationship between dose of antithyroid drugs and adverse events in pediatric patients with Graves' disease.

Clin Pediatr Endocrinol 2017 Jan 31;26(1):1-7. Epub 2017 Jan 31.

Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

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http://dx.doi.org/10.1297/cpe.26.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5295245PMC
January 2017

Limited Immunogenicity of Human Induced Pluripotent Stem Cell-Derived Cartilages.

Tissue Eng Part A 2016 12 31;22(23-24):1367-1375. Epub 2016 Oct 31.

1 Cell Induction and Regulation Field, Department of Cell Growth and Differentiation, Center for iPS Cell Research and Application, Kyoto University , Kyoto, Japan .

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http://dx.doi.org/10.1089/ten.TEA.2016.0189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5175426PMC
December 2016

Hepatocellular carcinoma in children and young patients with chronic HBV infection and the usefulness of alpha-fetoprotein assessment.

Cancer Med 2016 11 17;5(11):3102-3110. Epub 2016 Oct 17.

Department of Virology and Liver Unit, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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http://dx.doi.org/10.1002/cam4.917DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5119965PMC
November 2016

Sleep problems are more frequent and associated with problematic behaviors in preschoolers with autism spectrum disorder.

Res Dev Disabil 2016 Feb-Mar;49-50:86-99. Epub 2015 Dec 10.

Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka 5650871, Japan; Department of Child Development, United Graduate School of Child Development, Osaka University, 2-2 Yamadaoka, Suita, Osaka 5650871, Japan; Research Center for Children's Mental Development, United Graduate School of Child Development, Osaka University, 2-2 Yamadaoka, Suita, Osaka 5650871, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ridd.2015.11.002DOI Listing
October 2016

Longitudinal observation of serum anti-Müllerian hormone in three girls after cancer treatment.

Clin Pediatr Endocrinol 2016 Oct 18;25(4):119-126. Epub 2016 Oct 18.

Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

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http://dx.doi.org/10.1297/cpe.25.119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5069540PMC
October 2016

Inorganic Phosphate Activates the AKT/mTORC1 Pathway and Shortens the Life Span of an α‑Klotho-Deficient Model.

J Am Soc Nephrol 2016 09 12;27(9):2810-24. Epub 2016 Feb 12.

Department of Bone and Mineral Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan; and.

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http://dx.doi.org/10.1681/ASN.2015040446DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5004643PMC
September 2016

Marked elevation of urinary β2-microglobulin in patients with reversible splenial lesions: A small case series.

J Neurol Sci 2016 Sep 1;368:109-12. Epub 2016 Jul 1.

Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.

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http://dx.doi.org/10.1016/j.jns.2016.06.066DOI Listing
September 2016

Multidisciplinary treatment for prepubertal juvenile myasthenia gravis with crisis.

Pediatr Int 2016 Aug 21;58(8):772-4. Epub 2016 Jun 21.

Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

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http://dx.doi.org/10.1111/ped.12957DOI Listing
August 2016

Nationwide survey of fibroblast growth factor 23 (FGF23)-related hypophosphatemic diseases in Japan: prevalence, biochemical data and treatment.

Endocr J 2015 1;62(9):811-6. Epub 2015 Jul 1.

Department of Hematology, Endocrinology & Metabolism Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima 770-8503 Japan.

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http://dx.doi.org/10.1507/endocrj.EJ15-0275DOI Listing
July 2016

GFRA2 Identifies Cardiac Progenitors and Mediates Cardiomyocyte Differentiation in a RET-Independent Signaling Pathway.

Cell Rep 2016 07 7;16(4):1026-1038. Epub 2016 Jul 7.

Centre for Endocrinology, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK; Translational Medicine and Therapeutics, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.06.050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4967477PMC
July 2016

Analysis of public concerns about influenza vaccinations by mining a massive online question dataset in Japan.

Vaccine 2016 06 14;34(27):3207-3213. Epub 2016 Jan 14.

Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

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http://dx.doi.org/10.1016/j.vaccine.2016.01.008DOI Listing
June 2016

Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia.

Clin Endocrinol (Oxf) 2016 06 25;84(6):845-50. Epub 2016 Feb 25.

Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

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http://dx.doi.org/10.1111/cen.13025DOI Listing
June 2016

Transformative therapy in hypophosphatasia.

Arch Dis Child 2016 06 18;101(6):514-515. Epub 2016 Mar 18.

Department of Pediatrics, Osaka University, Graduate School of Medicine, Suita, Osaka, Japan.

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http://dx.doi.org/10.1136/archdischild-2015-309579DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4893079PMC
June 2016

Pheochromocytoma complicated by cyanotic congenital heart disease: a case report.

Clin Pediatr Endocrinol 2016 Apr 28;25(2):59-65. Epub 2016 Apr 28.

Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

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http://dx.doi.org/10.1297/cpe.25.59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4860516PMC
April 2016

Pathological examination of the placenta in small for gestational age (SGA) children with or without postnatal catch-up growth.

J Matern Fetal Neonatal Med 2016 Mar 25;29(6):982-6. Epub 2015 Sep 25.

a Department of Pediatrics , Osaka University Graduate School of Medicine , Suita , Osaka , Japan and.

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http://dx.doi.org/10.3109/14767058.2015.1029911DOI Listing
March 2016

Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth.

Eur J Pediatr 2016 Mar 12;175(3):433-7. Epub 2015 Oct 12.

Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamada-oka, Suita, Osaka, Japan.

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http://dx.doi.org/10.1007/s00431-015-2641-2DOI Listing
March 2016

Chemical chaperone treatment for galactosialidosis: Effect of NOEV on β-galactosidase activities in fibroblasts.

Brain Dev 2016 Feb 7;38(2):175-80. Epub 2015 Aug 7.

Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2015.07.006DOI Listing
February 2016

Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.

Am J Med Genet A 2016 Feb 14;170A(2):426-434. Epub 2015 Nov 14.

Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul, Republic of Korea.

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http://dx.doi.org/10.1002/ajmg.a.37463DOI Listing
February 2016

[Diagnostic criteria for vitamin D-deficient rickets and hypocalcemia-].

Authors:
Keiichi Ozono

Clin Calcium 2016 Feb;26(2):215-22

Department of Pediatrics, Osaka University, Graduate School of Medicine, Japan.

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http://dx.doi.org/CliCa1602215222DOI Listing
February 2016

Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia.

J Clin Endocrinol Metab 2016 Jan 3;101(1):334-42. Epub 2015 Nov 3.

Shriners Hospital for Children (M.P.W.) and Division of Bone and Mineral Diseases at Washington University School of Medicine (M.P.W.), St Louis, Missouri 63110; University of Manitoba and Children's Hospital Research Institute of Manitoba (C.R.-G.), Winnipeg, MB R3T 2N2 Canada; Graduate School of Medicine (K.O.), Osaka University, Osaka, 565-0871 Japan; Alexion Pharmaceuticals, Inc. (R.R., S.M., A.M., D.D.T.), Cheshire, Connecticut 06410; Department of Human Metabolism (N.B.), University of Sheffield, Sheffield, S10 2TN United Kingdom; Sheffield Children's Hospital (N.B.), Sheffield, S10 2TH United Kingdom; University Children's Hospital (C.H.), University of Würzburg, Würzburg, D-97080 Germany.

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http://dx.doi.org/10.1210/jc.2015-3462DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4701846PMC
January 2016

Current concepts in perinatal mineral metabolism.

Clin Pediatr Endocrinol 2016 Jan 30;25(1):9-17. Epub 2016 Jan 30.

Department of Bone and Mineral Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan.

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http://dx.doi.org/10.1297/cpe.25.9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4738188PMC
January 2016

Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations.

J Hum Genet 2015 Sep 25;60(9):539-45. Epub 2015 Jun 25.

Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

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http://dx.doi.org/10.1038/jhg.2015.61DOI Listing
September 2015

Treatment situation of male hypogonadotropic hypogonadism in pediatrics and proposal of testosterone and gonadotropins replacement therapy protocols.

Clin Pediatr Endocrinol 2015 Apr 15;24(2):37-49. Epub 2015 May 15.

Study Group of Treatment for MHH ; Pharmaceutical Affairs Committee, the Japanese Society for Pediatric Endocrinology ; Tanaka Growth Clinic, Tokyo, Japan.

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http://dx.doi.org/10.1297/cpe.24.37DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4436555PMC
April 2015