Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing-Reference-Cited by-同舟云学术

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

Published:2018-10-01 Issue:1 Volume:13 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Bijarnia-Mahay Sunita^ORCID,Häberle Johannes,Jalan Anil B.,Puri Ratna Dua,Kohli Sudha,Kudalkar Ketki,Rüfenacht Véronique,Gupta Deepti,Maurya Deepshikha,Verma Jyotsna,Shigematsu Yosuke,Yamaguchi Seiji,Saxena Renu,Verma Ishwar C.

Funder

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-018-0908-1.pdf

Reference52 articles.

1. Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, Karall D, Martinelli D, Sanjurjo Crespo P, Santer R, Servais A, Valayannopoulos V, Lindner M, Rubio V, Dionisi-Vici C. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 2012;7:32.

2. Brusilow SW, Maestri NE. Urea cycle disorders: diagnosis, pathophysiology, and therapy. Adv Pediatr Infect Dis. 1996;43:127–70.

3. Summar ML, Koelker S, Freedenberg D, Le Mons C, Haberle J, Lee HS, Kirmse B. European registry and network for intoxication type metabolic diseases (E-IMD). Electronic address: http://www.e-imd.org/en/index.phtml ; members of the urea cycle disorders consortium (UCDC). Electronic address: http://rarediseasesnetwork.epi.usf.edu/ucdc/ . The incidence of urea cycle disorders. Mol Genet Metab. 2013;110:179–80.

4. Wilcken B, Haas M, Joy P, Wiley V, Bowling F, Carpenter K, Christodoulou J, Cowley D, Ellaway C, Fletcher J, Kirk EP, Lewis B, McGill J, Peters H, Pitt J, Ranieri E, Yaplito-Lee J, Boneh A. Expanded newborn screening: outcome in screened and unscreened patients at age 6 years. Pediatrics. 2009;124:e241–8.

5. Nettesheim S, Kölker S, Karall D, Häberle J, Posset R, Hoffmann GF, HeinrichB GF, Garbade SF, Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS); European registry and network for Intoxication type Metabolic Diseases (E-IMD); Erhebungseinheit für Seltene PädiatrischeErkrankungen in Deutschland (ESPED); Austrian Metabolic Group; Swiss Paediatric Surveillance Unit (SPSU). Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland. Orphanet J Rare Dis. 2017;12(1):111.

Cited by 25 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The Story of Ammonia in Liver Disease: An Unraveling Continuum;Journal of Clinical and Experimental Hepatology;2024-07

2. Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants;Molecular Genetics & Genomic Medicine;2023-01-20

3. Adult Onset Episodic Encephalopathy Due to Citrin Deficiency—A Case Report;Annals of Indian Academy of Neurology;2023

4. Cell-Free Fetal DNA and Non-Invasive Prenatal Diagnosis of Chromosomopathies and Pediatric Monogenic Diseases: A Critical Appraisal and Medicolegal Remarks;Journal of Personalized Medicine;2022-12-20

5. A complex case of delayed diagnosis of ornithine transcarbamylase deficiency in an adult patient with multiple comorbidities;Molecular Genetics and Metabolism Reports;2022-12