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1.
Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.
Mol Genet Metab
; 123(2): 127-134, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29248359
2.
Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome.
Mol Genet Metab
; 119(1-2): 131-43, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27380995
3.
Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.
J Inherit Metab Dis
; 39(6): 839-847, 2016 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27553181
4.
Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.
Clin Dysmorphol
; 33(2): 55-62, 2024 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38410982
5.
SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.
JIMD Rep
; 60(1): 75-87, 2021 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-34258143
6.
Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.
OMICS
; 24(3): 160-171, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32105570
7.
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Nat Commun
; 11(1): 595, 2020 01 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-32001716
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