التفاصيل البيبلوغرافية
| العنوان: |
Clinical characteristics PCD |
| المؤلفون: |
L.L. Crefcoeur, Barbara Sjouke, Gepke Visser, Mirjam Langeveld, Frits Wijburg, Sacha Ferdinandusse |
| سنة النشر: |
2022 |
| المجموعة: |
University of Amsterdam / Amsterdam University of Applied Sciences: Figshare |
| مصطلحات موضوعية: |
Health Sciences, primary carnitine deficiency (PCD), OCTN2, literature review.ResultsFrom, Clinical Characteristics, SLC22A5, Metabolic disorders, Metabolic Disease |
| الوصف: |
Raw data of a structured review, aiming to evaluate clinical characteristics of primary carnitine deficiency (PCD). The data sheet (Clinical charactaristics PCD.csv) contains individual case data on publication information, diagnosis, genetic characteristics and symptoms. The data sheet (Carnitine measurement diagnosis.csv) contains the results of carnitine measurements at diagnosis of individual cases. The data sheet (Additional testing.xlsx) contains the reported results from additional testing extracted from the published records. |
| نوع الوثيقة: |
dataset |
| اللغة: |
unknown |
| Relation: |
https://figshare.com/articles/dataset/Clinical_characteristics_PCD/17722598 |
| DOI: |
10.21942/uva.17722598.v1 |
| الاتاحة: |
https://doi.org/10.21942/uva.17722598.v1
https://figshare.com/articles/dataset/Clinical_characteristics_PCD/17722598 |
| Rights: |
CC BY 4.0 |
| رقم الانضمام: |
edsbas.F8634939 |
| قاعدة البيانات: |
BASE |