Publications by authors named "Taichi Kitaoka"

37Publications

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

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

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

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

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

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

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

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

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

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

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

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

Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.

Eur J Pediatr 2014 Jun 4;173(6):799-804. Epub 2014 Jan 4.

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

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http://dx.doi.org/10.1007/s00431-013-2252-8DOI Listing
June 2014

Detection and characterization of two novel mutations in the HNF4A gene in maturity-onset diabetes of the young type 1 in two Japanese families.

Horm Res Paediatr 2013 1;79(4):220-6. Epub 2013 May 1.

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

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http://dx.doi.org/10.1159/000350520DOI Listing
December 2013

Pediatric aspects of skeletal dysplasia.

Pediatr Endocrinol Rev 2012 Oct;10 Suppl 1:35-43

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

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October 2012

Circulating levels of soluble alpha-Klotho are markedly elevated in human umbilical cord blood.

J Clin Endocrinol Metab 2011 Jun 16;96(6):E943-7. Epub 2011 Mar 16.

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

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http://dx.doi.org/10.1210/jc.2010-2357DOI Listing
June 2011

Decrease in serum FGF23 levels after intravenous infusion of pamidronate in patients with osteogenesis imperfecta.

J Bone Miner Metab 2011 Sep 23;29(5):598-605. Epub 2011 Feb 23.

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

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http://dx.doi.org/10.1007/s00774-011-0262-zDOI Listing
September 2011

A Japanese male patient with 'fibular aplasia, tibial campomelia and oligodactyly': an additional case report.

Clin Pediatr Endocrinol 2009 Jul 1;18(3):81-6. Epub 2009 Aug 1.

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

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http://dx.doi.org/10.1297/cpe.18.81DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3687608PMC
July 2009

Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter.

Eur J Pediatr 2008 Jul 25;167(7):785-91. Epub 2007 Sep 25.

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

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http://dx.doi.org/10.1007/s00431-007-0589-6DOI Listing
July 2008

[Albright hereditary osteodystrophy].

Nihon Rinsho 2006 Jun;Suppl 2:61-5

Department of Pediatrics, Osaka University Graduate School of Medicine.

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June 2006

[Osteoporosis in osteogenesis imperfecta].

Clin Calcium 2003 Dec;13(12):1565-8

Department of Pediatrics, Minoh City Hospital.

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http://dx.doi.org/CliCa031215651568DOI Listing
December 2003

[Not Available].

Clin Calcium 2003 Jun;13(6):786-90

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http://dx.doi.org/CliCa0306786790DOI Listing
June 2003