Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Madhavi, Vasikarla"'
Publikováno v:
Sultan Qaboos University Medical Journal, Vol 15, Iss 4, Pp e572-573 (2015)
Externí odkaz:
https://doaj.org/article/1011bd06553245478b4c81bc4ee5a0a9
Autor:
Lakshmi Vasudevan, Umesh Kalane, Parag M Tamhankar, Katta M. Girisha, Mahesh Kamate, Shaik Mohammad Naushad, Mamta N. Muranjan, Pooja J. Dholakia, Sumita Danda, Sarfaraj Niazi, Vasundhara Tamhankar, Shekhar Patil, Pratima Kondurkar, Reena Gulati, Rita Christopher, Dhaval Solanki, Madhavi Vasikarla, Jayesh Sheth
Publikováno v:
J Pediatr Genet
Glutaric acidemia type 1 (GA-1, OMIM 231670) is an autosomal recessive inborn error of metabolism caused by the deficiency of glutaryl-coenzyme A (CoA) dehydrogenase with most children presenting in infancy with encephalopathy, dystonia, and macrocep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7e65672b344894b2102c3c1e80ca4bc
https://europepmc.org/articles/PMC8416222/
https://europepmc.org/articles/PMC8416222/
Publikováno v:
Indian Pediatrics. 58:80-81
A full-term female baby, a product of non-consanguineous marriage, was born at 37 weeks of gestation with a birth weight of 2.08 kg. Antenatal scan at 31 weeks revealed complex congenital heart disease with a hypoplastic right ventricle, pulmonary at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dd365c575b8cada01a8153929d62157
https://europepmc.org/articles/PMC4039909/
https://europepmc.org/articles/PMC4039909/
Autor:
Sharma, Deepak, Murki, Srinivas, Tejopratap, Oleti, Madhavi, Vasikarla, Vesoulis, Zachary A., Vachharajani, Akshaya J.
Publikováno v:
NeoReviews; Mar2014, Vol. 15 Issue 3, pe99-e103, 5p