Detalhe da pesquisa
1.
Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants.
Proc Natl Acad Sci U S A
; 119(38): e2202727119, 2022 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36099300
2.
Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.
Mol Genet Metab
; 141(2): 108119, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38184429
3.
Impaired mitophagy in Sanfilippo a mice causes hypertriglyceridemia and brown adipose tissue activation.
J Biol Chem
; 298(8): 102159, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35750212
4.
Multiple bumps can enhance robustness to noise in continuous attractor networks.
PLoS Comput Biol
; 18(10): e1010547, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36215305
5.
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
J Inherit Metab Dis
; 46(2): 326-334, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36719165
6.
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
Cardiol Young
; 32(3): 364-373, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34420548
7.
Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr.
Am J Med Genet A
; 185(9): 2636-2645, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33913595
8.
Characterization of disease-specific chondroitin sulfate nonreducing end accumulation in mucopolysaccharidosis IVA.
Glycobiology
; 30(7): 433-445, 2020 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31897472
9.
The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII.
Mol Genet Metab
; 129(3): 219-227, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32063397
10.
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.
Mol Genet Metab
; 131(4): 405-417, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33257258
11.
Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints.
Mol Genet Metab
; 131(1-2): 181-196, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32917509
12.
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
Mol Genet Metab
; 129(4): 292-302, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32033912
13.
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
J Inherit Metab Dis
; 43(6): 1333-1348, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681751
14.
Dental Topics for Plastic Surgeons, Part Two: Abnormal Tooth Development, Conditions, and Treatment.
J Craniofac Surg
; 31(5): 1497-1506, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32569039
15.
Dental Topics for Plastic Surgeons, Part One: Normal Anatomy, Growth and Development.
J Craniofac Surg
; 31(4): 1168-1173, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32209941
16.
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Genet Med
; 21(11): 2543-2551, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31086307
17.
Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.
Mol Genet Metab
; 126(1): 53-63, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30473481
18.
Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.
Genet Med
; 20(10): 1284-1294, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29565424
19.
A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease.
Mol Genet Metab
; 123(4): 488-494, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29478819
20.
Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy.
Mol Genet Metab
; 123(2): 85-91, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29050825