Detalhe da pesquisa
1.
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.
Acta Paediatr
; 107(8): 1402-1408, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29797470
2.
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
Acta Paediatr
; 107(12): 2059-2065, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30242902
3.
Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.
BMC Neurol
; 15: 205, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26471939
4.
Anti-U1RNP-70kD-positive case of neonatal lupus presenting with seizure and incomplete heart block: a case report and literature review.
Front Pediatr
; 11: 1239327, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37681197
5.
A Case of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Optic Neuritis Responsive to Intravenous Immunoglobulin (IVIG) Therapy in a Pediatric Patient.
Cureus
; 15(8): e43218, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37565176
6.
Gene Therapy for Duchenne Muscular Dystrophy: Unlocking the Opportunities in Countries in the Middle East and Beyond.
J Neuromuscul Dis
; 9(6): 787-801, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36245386
7.
Linear Nevus Sebaceous Syndrome in a Child With Infantile Spasms and Focal Cortical Dysplasia.
Cureus
; 13(9): e17694, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34650868
8.
Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency.
Genes (Basel)
; 12(5)2021 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34066864
9.
De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.
Mol Brain
; 14(1): 126, 2021 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34399820
10.
Current management of Duchenne muscular dystrophy in the Middle East: expert report.
Neurodegener Dis Manag
; 9(3): 123-133, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31166138
11.
Infant botulism type Ba: first culture-confirmed case in the United Arab Emirates.
Pediatr Neurol
; 39(3): 204-6, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18725068
12.
The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE.
JIMD Rep
; 8: 7-10, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23430513