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Print ISSN: 1792-0981 Online ISSN: 1792-1015
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July-2016 Volume 12 Issue 1

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International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

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International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

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Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

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Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

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Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

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Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

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Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

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Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

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International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

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International Journal of Epigenetics

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Case Report

Case report: An adult‑onset type II citrin deficiency patient in the emergency department

  • Authors:
    • Lujia Tang
    • Liang Chen
    • Hairong Wang
    • Lihua Dai
    • Shuming Pan
  • View Affiliations / Copyright

    Affiliations: Emergency Department, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, P.R. China
  • Pages: 410-414
    |
    Published online on: April 27, 2016
       https://doi.org/10.3892/etm.2016.3298
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Abstract

Mutations in the solute carrier family 25 (SLC25A13) gene may result in neonatal intrahepatic cholestasis caused by citrin deficiency and/or adult‑onset type II citrullinemia. These conditions are inherited in an autosomal recessive manner. The current case report describes a 43‑year‑old man who presented with sudden delirium and upper limb weakness. Upon admission, the patient was fully conscious and alert but later lost consciousness subsequent to a sudden convulsive seizure. Hyperammonemia was detected and analysis of the SLC25A13 gene identified an 851del4 mutation. Thus, the possibility of genetic disease should be considered as a potential cause of the symptoms of patients with altered states of consciousness, such as delirium and loss of consciousness, in cases where the cause of the disturbance is unknown.
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Copy and paste a formatted citation
Spandidos Publications style
Tang L, Chen L, Wang H, Dai L and Pan S: Case report: An adult‑onset type II citrin deficiency patient in the emergency department. Exp Ther Med 12: 410-414, 2016.
APA
Tang, L., Chen, L., Wang, H., Dai, L., & Pan, S. (2016). Case report: An adult‑onset type II citrin deficiency patient in the emergency department. Experimental and Therapeutic Medicine, 12, 410-414. https://doi.org/10.3892/etm.2016.3298
MLA
Tang, L., Chen, L., Wang, H., Dai, L., Pan, S."Case report: An adult‑onset type II citrin deficiency patient in the emergency department". Experimental and Therapeutic Medicine 12.1 (2016): 410-414.
Chicago
Tang, L., Chen, L., Wang, H., Dai, L., Pan, S."Case report: An adult‑onset type II citrin deficiency patient in the emergency department". Experimental and Therapeutic Medicine 12, no. 1 (2016): 410-414. https://doi.org/10.3892/etm.2016.3298
Copy and paste a formatted citation
x
Spandidos Publications style
Tang L, Chen L, Wang H, Dai L and Pan S: Case report: An adult‑onset type II citrin deficiency patient in the emergency department. Exp Ther Med 12: 410-414, 2016.
APA
Tang, L., Chen, L., Wang, H., Dai, L., & Pan, S. (2016). Case report: An adult‑onset type II citrin deficiency patient in the emergency department. Experimental and Therapeutic Medicine, 12, 410-414. https://doi.org/10.3892/etm.2016.3298
MLA
Tang, L., Chen, L., Wang, H., Dai, L., Pan, S."Case report: An adult‑onset type II citrin deficiency patient in the emergency department". Experimental and Therapeutic Medicine 12.1 (2016): 410-414.
Chicago
Tang, L., Chen, L., Wang, H., Dai, L., Pan, S."Case report: An adult‑onset type II citrin deficiency patient in the emergency department". Experimental and Therapeutic Medicine 12, no. 1 (2016): 410-414. https://doi.org/10.3892/etm.2016.3298
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