Case Series of Creatine Deficiency Syndrome due to Guanidinoacetate Methyltransferase Deficiency

por Narayan, Vinu, Mahay, Sunita Bijarnia, Verma, Ishwar Chander, Puri, Ratna Dua
Publicado 2020

Mutation–Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype

por Khatter, Sangeeta, Puri, Ratna Dua, Mahay, Sunita Bijarnia, Bhai, Pratibha, Saxena, Renu, Verma, Ishwar C
Publicado 2019