Two cases of variant late infantile ceroid lipofuscinosis in Jordan-Reference-Cited by-同舟云学术

Two cases of variant late infantile ceroid lipofuscinosis in Jordan

Published:2019-01-26 Issue:2 Volume:7 Page:203-208
ISSN:2307-8960
Container-title:World Journal of Clinical Cases
language:
Short-container-title:WJCC

Author:

Nafi Omar,Ramadan Bashar,Riess Olaf,Buchert Rebecca,Froukh Tawfiq

Publisher

Baishideng Publishing Group Inc.

Subject

General Medicine

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4. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

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1. Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia;Pediatric Neurology;2024-06

2. Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center;Orphanet Journal of Rare Diseases;2022-05-03

3. Higher order visual dysfunction and myoclonic-atonic seizure: an atypical presentation of CLN6 neuronal ceroid lipofuscinosis;BMJ Case Reports;2022-02

4. Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica’s experience;Orphanet Journal of Rare Diseases;2022-01-10

5. Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families;BMC Medical Genetics;2020-09-04