Detalhe da pesquisa
1.
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.
N Engl J Med
; 387(23): 2150-2158, 2022 12 08.
Artigo
Inglês
| MEDLINE | ID: mdl-36351280
2.
An exploratory study of plasma ceramides in comorbidities in Down syndrome.
Am J Med Genet A
; 191(9): 2300-2311, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37340831
3.
Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects.
Prenat Diagn
; 43(13): 1638-1649, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37955580
4.
Fenofibrate rapidly decreases hepatic lipid and glycogen storage in neonatal mice with glycogen storage disease type Ia.
Hum Mol Genet
; 29(2): 286-294, 2020 01 15.
Artigo
Inglês
| MEDLINE | ID: mdl-31816064
5.
MPS VI associated ocular phenotypes in an MPS VI murine model and the therapeutic effects of odiparcil treatment.
Mol Genet Metab
; 135(2): 143-153, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34417096
6.
Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia.
J Inherit Metab Dis
; 45(4): 734-747, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35357708
7.
Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia.
Hum Mol Genet
; 28(1): 143-154, 2019 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30256948
8.
Acetyl-l-carnitine deficiency in patients with major depressive disorder.
Proc Natl Acad Sci U S A
; 115(34): 8627-8632, 2018 08 21.
Artigo
Inglês
| MEDLINE | ID: mdl-30061399
9.
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.
Genet Med
; 22(5): 898-907, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31904026
10.
A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.
Mol Genet Metab
; 130(3): 209-214, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32418857
11.
Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease.
Mol Genet Metab
; 129(2): 67-72, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31839530
12.
Glycocalyx breakdown is increased in African children with cerebral and uncomplicated falciparum malaria.
FASEB J
; 33(12): 14185-14193, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31658834
13.
Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring.
Genet Med
; 21(12): 2686-2694, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31263214
14.
The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.
J Pediatr
; 211: 193-200.e2, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31133280
15.
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine ß-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.
J Inherit Metab Dis
; 42(3): 424-437, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30873612
16.
Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.
Hum Mol Genet
; 23(18): 5009-16, 2014 Sep 15.
Artigo
Inglês
| MEDLINE | ID: mdl-24847004
17.
Response to Heiner-Fokkema et al.
Genet Med
; 22(11): 1917-1918, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32655140
18.
A straightforward, quantitative ultra-performance liquid chromatography-tandem mass spectrometric method for heparan sulfate, dermatan sulfate and chondroitin sulfate in urine: an improved clinical screening test for the mucopolysaccharidoses.
Mol Genet Metab
; 114(2): 123-8, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25458519
19.
Adjunctive ß2-agonist treatment reduces glycogen independently of receptor-mediated acid α-glucosidase uptake in the limb muscles of mice with Pompe disease.
FASEB J
; 28(5): 2272-80, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24448824
20.
Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease.
FASEB J
; 28(5): 2171-6, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24443373