Detalhe da pesquisa
1.
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
N Engl J Med
; 373(11): 1010-20, 2015 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26352813
2.
A Case of Severe Neonatal Hyperammonemia.
Clin Chem
; 63(8): 1420-1422, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28751323
3.
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
Epilepsia
; 53(8): e146-50, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22690784
4.
The Bespoke Gene Therapy Consortium: facilitating development of AAV gene therapies for rare diseases.
Nat Rev Drug Discov
; 23(3): 157-158, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38321319
5.
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia.
Am J Med Genet A
; 146A(6): 745-57, 2008 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18260132
6.
Two Cockayne Syndrome patients with a novel splice site mutation - clinical and metabolic analyses.
Mech Ageing Dev
; 175: 7-16, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29944916
7.
Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.
JIMD Rep
; 35: 7-15, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27858371
8.
Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation.
JPEN J Parenter Enteral Nutr
; 39(7): 875-9, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24618664
9.
Laminopathies, other progeroid disorders, and aging: common pathogenic themes and possible treatments.
Am J Med Genet A
; 149A(4): 563-6, 2009 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19248181
10.
Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.
Nat Genet
; 44(5): 593-7, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22466612
11.
Response of motor complications in Cockayne syndrome to carbidopa-levodopa.
Arch Neurol
; 65(8): 1117-21, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18695064