Detalhe da pesquisa
1.
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries.
J Inherit Metab Dis
; 2024 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38433424
2.
The current state of adult metabolic medicine in the United States: Results of a nationwide survey.
Genet Med
; 24(8): 1722-1731, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35543711
3.
Perceptions and use of phenylbutyrate metabolite testing in urea cycle disorders: Results of a clinician survey and analysis of a centralized testing database.
Mol Genet Metab
; 135(1): 35-41, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34980542
4.
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Mol Genet Metab
; 136(1): 4-21, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35367141
5.
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
J Inherit Metab Dis
; 45(6): 1106-1117, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36093991
6.
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.
Genet Med
; 23(5): 845-855, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495531
7.
Galactokinase deficiency: lessons from the GalNet registry.
Genet Med
; 23(1): 202-210, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32807972
8.
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Mol Genet Metab
; 133(4): 397-399, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34140212
9.
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.
Hepatology
; 72(6): 1968-1986, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32145091
10.
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Genet Med
; 21(8): 1899, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30327536
11.
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Genet Med
; 21(3): 601-607, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245509
12.
Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry.
Clin Chem
; 65(5): 653-663, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30770376
13.
Early Indicators of Creatine Transporter Deficiency.
J Pediatr
; 206: 283-285, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30579583
14.
Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.
J Inherit Metab Dis
; 42(1): 140-146, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740726
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
em Inglês
| MEDLINE | ID: mdl-30873612
16.
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
J Inherit Metab Dis
; 42(2): 333-352, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773687
17.
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
18.
Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2â¯months to 2â¯years of age with urea cycle disorders.
Mol Genet Metab
; 125(3): 251-257, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30217721
19.
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Mol Genet Metab
; 123(3): 337-346, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29397290
20.
Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).
Am J Med Genet A
; 176(2): 301-310, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29210515