200 top medical experts on Adult-onset citrullinemia type 2 across 15 countries and 2 U.S. states, including 6 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Adult-onset citrullinemia type 2: A rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Support Organizations
- Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org
- National Urea Cycle Disorders Foundation
75 South Grand Avenue
Pasadena, CA 91105
Toll-free: 800-38-NUDCF (386-8233)
Telephone: +1-626-578-0833
E-mail: info@nucdf.org
Website: http://www.nucdf.org
- Save Babies Through Screening Foundation, Inc
P.O. Box 2313
Palm Harbor, FL 34682-2313
Toll-free: 888-454-3383
E-mail: email@savebabies.org
Website: http://www.savebabies.org
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- Synonyms: Citrin deficiency, Adult-Onset Type II Citrullinemia
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