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Novel compound heterozygous mutations in the SBP2 gene: characteristic clinical manifestations and the implications of GH and triiodothyronine in longitudinal bone growth and maturation

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Year: 2012
Type: article
Study design: Case Report
Source: European Journal of Endocrinology
DOI: 10.1530/eje-11-0812
Authors: Takashi Hamajima, Yuichi Mushimoto, Hironori Kobayashi, Yoshiro Saito, Kazumichi Onigata
Institutions: Aichi Children's Health and Medical Center, Shimane University, University of Shimane, Doshisha University
Language: English

Topic: Growth Hormone and Insulin-like Growth Factors
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
SDG: Good health and well-being

Open Access status: closed

Funder: Japan Society for the Promotion of Science
Award: Enzymatic evaluation of fatty acid oxidation by an in vitro probe acylcarnitine profiling assay using peripheral lymphocytes and electrospray ionization/tandem mass spectrometry(MS/MS)
OpenAlex ID: W2101305186
FWCI: 3.913
Cites: 28
Cited by: 70
Related to: 10
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