Unique ID issued by UMIN | UMIN000003717 |
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Receipt number | R000004495 |
Scientific Title | Epidemiological studies for clinical manifestations and case numbers of inborn errors of ketone body metabolism (HMG-CoA syntase deficiency, HMG-CoA lyase deficiency, beta-ketothiolase deficiency, SCOT deficiency) |
Date of disclosure of the study information | 2010/06/10 |
Last modified on | 2016/08/28 14:23:15 |
Epidemiological studies for clinical manifestations and case numbers of inborn errors of ketone body metabolism (HMG-CoA syntase deficiency, HMG-CoA lyase deficiency, beta-ketothiolase deficiency, SCOT deficiency)
Epidemiological studies of inborn errors of ketone body metabolism
Epidemiological studies for clinical manifestations and case numbers of inborn errors of ketone body metabolism (HMG-CoA syntase deficiency, HMG-CoA lyase deficiency, beta-ketothiolase deficiency, SCOT deficiency)
Epidemiological studies of inborn errors of ketone body metabolism
Japan |
HMG-CoA synthase deficiency, HMG-CoA lyase deficiency, Beta-ketothiolase deficiency, Succinyl-CoA:3-ketoacid CoA transferase deficiency
Pediatrics |
Others
NO
We will collect clinical information for definite and possible cases for these 4 disorders by questionnaire, will make guidelines for diagnosis and treatments, and will use these information for further study.
Others
Epidemiological purpose
Confirmatory
Explanatory
Not applicable
clinical data
Observational
Not applicable |
Not applicable |
Male and Female
definite diagnosed
possibly diagnosed
obviously excluded
100
1st name | |
Middle name | |
Last name | Toshiyuki Fukao |
Gifu University
Graduate School of Medicine
Yanagido 1-1, Gifu
058-230-6386
toshi-gif@umin.net
1st name | |
Middle name | |
Last name | Toshiyuki Fukao |
Gifu University
Graduate School of Medicine
1-1 yanagido, Gifu
056-230-6380
toshi-gif@umin.net
department of Pediatrics, Graduate School of Medicine, Gifu University
Health and Labor Science Research Grants for Research on Intractable Diseases from The Ministry of Health, Labor and Welfare of Japan
Japanese Governmental office
Japan
NO
岐阜大学(岐阜県)
2010 | Year | 06 | Month | 10 | Day |
Published
We could not identified new patients with inborn errors of ketone body metabolism.
Completed
2010 | Year | 06 | Month | 04 | Day |
2010 | Year | 06 | Month | 01 | Day |
epidemiologic study
2010 | Year | 06 | Month | 04 | Day |
2016 | Year | 08 | Month | 28 | Day |
Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000004495
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