Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia-Reference-Cited by-同舟云学术

Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia

Published:2016-11 Issue:11 Volume:58 Page:1229-1231
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatrics International

Author:

Goto Motohide¹²,Yamamoto Yukiyo¹,Ishii Masahiro¹,Nakamura Akie³,Sano Shinichiro³,Kagami Masayo³,Fukami Maki³,Saito Reiko¹,Araki Shunsuke¹,Kubo Kazuyasu¹,Kawagoe Rinko¹,Kawada Yasusada¹,Kusuhara Koichi¹

Affiliation:

1. Department of Pediatrics; School of Medicine; University of Occupational and Environmental Health; Kitakyushu City Fukuoka Japan

2. Health Care & Support Center; General Affairs and Human Resources Office; Ube Industries; Ube City Yamaguchi Japan

3. Department of Molecular Endocrinology; National Research Institute for Child Health and Development; Tokyo Japan

Publisher

Wiley

Subject

Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ped.13096/fullpdf

Reference10 articles.

1. Clinical spectrum and pathogenesis of pseudohypoparathyroidism;Levine;Rev. Endocr. Metab. Disord.,2000

2. Establishment of diagnosis by bisulfite-treated methylation-specific PCR method and analysis of clinical characteristics of pseudohypoparathyroidism type 1b;Kinoshita;Endocr. J.,2011

3. Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of Albright hereditary osteodystrophy and molecular analysis in 40 patients;Mantovani;J. Clin. Endocrinol. Metab.,2010

4. Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism;Sanctis;Pediatr. Res.,2003

5. Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type 1b diagnosed by methylation-specific multiplex ligation-dependent probe amplification;Nagasaki;Endocr. J.,2013

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1. Pseudohypoparathyroidism presenting with seizures: a case report and literature review;Intractable & Rare Diseases Research;2020-08-31

2. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement;Nature Reviews Endocrinology;2018-06-29

3. Pseudohypoparathyroidism Type 1B with Asymptomatic Hypocalcemia;AACE Clinical Case Reports;2018-05

4. (Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I;Journal of the Endocrine Society;2017-11-21