scholarly journals A novel mutation in PCCB gene causing neonatal onset propionic acidaemia in a Sri Lankan patient

2021 ◽  
Vol 50 (1) ◽  
pp. 153
Author(s):  
Niranjalee Samanthika Egodawaththe ◽  
Sandya Bandara ◽  
Eresha Jasinge ◽  
Patricia Jones
Keyword(s):  
Novel Mutation ◽  
Propionic Acidaemia ◽  
Sri Lankan ◽  
Neonatal Onset

scholarly journals Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report

2017 ◽  
Vol 18 (1) ◽  
Author(s):  
Chandrika Jayakanthi Subasinghe ◽  
Nirmala Dushyanthi Sirisena ◽  
Chula Herath ◽  
Knut Erik Berge ◽  
Trond Paul Leren ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Gitelman Syndrome ◽  
Sri Lankan ◽  
Slc12a3 Gene

New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene

2015 ◽  
Vol 37 (9) ◽  
pp. 891-893 ◽  
Author(s):  
Carlo Fusco ◽  
Daniele Frattini ◽  
Grazia Gabriella Salerno ◽  
Elena Canali ◽  
Pia Bernasconi ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Novel Mutation ◽  
Neonatal Onset

scholarly journals A Novel Mutation in ACAT1 Causing Beta-Ketothiolase Deficiency in a 4-Year-Old Sri Lankan Boy with Metabolic Ketoacidosis

2019 ◽  
Vol 35 (2) ◽  
pp. 251-254
Author(s):  
Thivanka Vishwani Manawadu ◽  
Eresha Jasinge ◽  
Meranthi Fernando ◽  
Pradeep Gamage ◽  
Anusha Varuni Gunarathne
Keyword(s):  
Novel Mutation ◽  
Sri Lankan

Detection of a novel mutation in NLRP3/CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease (NOMID)

2018 ◽  
Vol 38 (2) ◽  
pp. 403-406 ◽  
Author(s):  
Sona B. Nair ◽  
Pallavi Pimpale Chavan ◽  
Arundhati S. Athalye ◽  
Ivona Aksentijevich ◽  
Raju P. Khubchandani
Keyword(s):  
Inflammatory Disease ◽  
Novel Mutation ◽  
Indian Child ◽  
Neonatal Onset

scholarly journals A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency

2018 ◽  
Vol 384 ◽  
pp. 121-125 ◽  
Author(s):  
Francois H. van der Westhuizen ◽  
Izelle Smuts ◽  
Engela Honey ◽  
Roan Louw ◽  
Maryke Schoonen ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Novel Mutation ◽  
Neonatal Onset
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