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| ID | Type | Description | Link |
|---|---|---|---|
| S-084/2014 | Other Identifier | IRB Heidelberg |
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The purpose of this study is to assess the frequency of Fabry disease in children with chronic abdominal pain or chronic pain in the extremities
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Screening population |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Screening for Fabry disease | Other |
|
| Measure | Description | Time Frame |
|---|---|---|
| Prevalence of Fabry disease | day 1 |
| Measure | Description | Time Frame |
|---|---|---|
| Prevalence of Fabry disease in predefined sub-populations | day 1 |
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Inclusion Criteria:
Age below 18 years
One of the following criteria:
Planned blood sample for routine diagnostics
Written informed consent
Exclusion Criteria:
- Patient and/or the patient's parent(s) or legal guardian(s) are unable to understand the nature, scope, and possible consequences of the screening.
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Children with rheumatological disorders or chronic abdominal pain
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Zentrum für Kinder- und Jugendmedizin | Heidelberg | Germany |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 15713906 | Background | Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, Rosing DR, Robinson C, Schaefer E, Gal A, Dambrosia JM, Garman SC, Brady RO, Schiffmann R. Pediatric Fabry disease. Pediatrics. 2005 Mar;115(3):e344-55. doi: 10.1542/peds.2004-1678. Epub 2005 Feb 15. | |
| 26275228 | Derived | Kastner B, Behre S, Lutz N, Burger F, Luntz S, Hinderhofer K, Bendszus M, Hoffmann GF, Ries M. Clinical Research in Vulnerable Populations: Variability and Focus of Institutional Review Boards' Responses. PLoS One. 2015 Aug 14;10(8):e0135997. doi: 10.1371/journal.pone.0135997. eCollection 2015. |
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| ID | Term |
|---|---|
| D000795 | Fabry Disease |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
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| ID | Term |
|---|---|
| D008403 | Mass Screening |
| ID | Term |
|---|---|
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D006306 | Health Surveys |
| D011795 | Surveys and Questionnaires |
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| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D059345 | Cerebral Small Vessel Diseases |
| D002561 | Cerebrovascular Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |
| D003625 | Data Collection |
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D003954 | Diagnostic Services |
| D011314 | Preventive Health Services |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D017531 | Health Care Evaluation Mechanisms |
| D011787 | Quality of Health Care |
| D017530 | Health Care Quality, Access, and Evaluation |
| D011634 | Public Health |
| D004778 | Environment and Public Health |
| D015980 | Public Health Practice |