Author:
Al Teneiji Amal,Bruun Theodora U.J.,Sidky Sarah,Cordeiro Dawn,Cohn Ronald D,Mendoza-Londono Roberto,Moharir Mahendranath,Raiman Julian,Siriwardena Komudi,Kyriakopoulou Lianna,Mercimek-Mahmutoglu Saadet
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference49 articles.
1. Further Delineation of the ALG9-CDG Phenotype;AlSubhi;J. Inherit. Metab. Dis. Rep.,2015
2. Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms;Babovic-Vuksanovic;Mol. Diagn. Ther.,2007
3. ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA;Bahena-Bahena;Mol. Genet. Metab. Rep.,2014
4. Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy;Barba;Dev. Med. Child Neurol.,2016
5. Clinical and molecular features of patients with congenital disorders of glycosylation in Brazil;Brum;Pediatr. Ther.,2012
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