Last Posted: Jan 02, 2020
- Pediatric Intestinal Pseudo-obstruction in the Era of Genetic Sequencing.
Gamboa Heidi E et al. Current gastroenterology reports 2019 Dec 21(12) 70
- Severe gastrointestinal dysmotility developed after treatment with gonadotropin-releasing hormone analogs.
Cordeddu Lina, et al. Scandinavian journal of gastroenterology 2015 3 (3) 291-9
- Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.
Bonora Elena, et al. Gastroenterology 2015 4 (4) 771-782.e11
- Intestinal pseudo-obstruction
From NCATS Genetic and Rare Diseases Information Center
- Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction.
Amiot Aurélien, et al. Gastroenterology 2009 7 (1) 101-9
- Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis.
Verny C, et al. Diabetes & metabolism 2008 12 (6 Pt 1) 620-6
- Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
Slama A, et al. Molecular genetics and metabolism 2005 4 (4) 326-31
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.