alexa Abstract | A clinical and DNA study on patients with Neuronal ceroid lipofuscinosis in Eastern Province, Saudi Arabia.

Current Pediatric Research
Open Access

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Abstract

Neuronal ceroid lipofuscinoses (NCLs) are a large group of autosomal recessive lysosomal storage disorders. Patients present with distinct clinical features. Confirmation of diagnosis is a challenge and involves complex biochemical, and enzymatic tests which may not be available locally. The aims of this study were to describe the clinical features and DNA results of patients attend Saad Specialist Hospital, Eastern Province, Saudi Arabia with clinical diagnosis of NCL. Seven children (age 6 months to 11 years) with common clinical features (microcephaly, developmental delay, neuroregression, behavior changes seizures, EEG changes and MRI changes of cerebral atrophy) - all suggestive of NCLs –were included in this study. Biochemical, metabolic, and DNA tests were performed in all patients. DNA results showed that one patient carries a homozygous mutation in CLN2 exon 12 (G514R5837A>T. Another patient carries a compound heterozygous mutation in CLN3 gene (IVSII-3C>T) and in CLN2 gene (G514R 5837 A>T in exon 12). A third patient carries a heterozygous mutation in CLN1 gene (IVSIII-18). The other 4 patients carry no mutation.

To read the full article Peer-reviewed Article PDF image

Author(s): Sarar Mohamed

Keywords

Neuronal Ceroid-Lipofuscinosis, mutation, DNA

 
Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

Agri, Food, Aqua and Veterinary Science Journals

Dr. Krish

agrifoodaquavet@omicsonline.com

1-702-714-7001 Extn: 9040

Clinical and Biochemistry Journals

Datta A

clinical_biochem@omicsonline.com

1-702-714-7001Extn: 9037

Business & Management Journals

Ronald

business@omicsonline.com

1-702-714-7001Extn: 9042

Chemical Engineering and Chemistry Journals

Gabriel Shaw

chemicaleng_chemistry@omicsonline.com

1-702-714-7001 Extn: 9040

Earth & Environmental Sciences

Katie Wilson

environmentalsci@omicsonline.com

1-702-714-7001Extn: 9042

Engineering Journals

James Franklin

engineering@omicsonline.com

1-702-714-7001Extn: 9042

General Science and Health care Journals

Andrea Jason

generalsci_healthcare@omicsonline.com

1-702-714-7001Extn: 9043

Genetics and Molecular Biology Journals

Anna Melissa

genetics_molbio@omicsonline.com

1-702-714-7001 Extn: 9006

Immunology & Microbiology Journals

David Gorantl

immuno_microbio@omicsonline.com

1-702-714-7001Extn: 9014

Informatics Journals

Stephanie Skinner

omics@omicsonline.com

1-702-714-7001Extn: 9039

Material Sciences Journals

Rachle Green

materialsci@omicsonline.com

1-702-714-7001Extn: 9039

Mathematics and Physics Journals

Jim Willison

mathematics_physics@omicsonline.com

1-702-714-7001 Extn: 9042

Medical Journals

Nimmi Anna

medical@omicsonline.com

1-702-714-7001 Extn: 9038

Neuroscience & Psychology Journals

Nathan T

neuro_psychology@omicsonline.com

1-702-714-7001Extn: 9041

Pharmaceutical Sciences Journals

John Behannon

pharma@omicsonline.com

1-702-714-7001Extn: 9007

Social & Political Science Journals

Steve Harry

social_politicalsci@omicsonline.com

1-702-714-7001 Extn: 9042

 
© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
adwords