Detalhe da pesquisa
1.
Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegaly.
Am J Med Genet A
; 188(11): 3364-3368, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35972026
2.
Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Variants in Individuals Evaluated for Primary Ciliary Dyskinesia.
J Pediatr
; 215: 172-177.e2, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31610925
3.
"Disappearing Infarct" Is Late-Onset MELAS.
Ann Neurol
; 90(6): 1001-1002, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34605558
4.
Rapid Advances in Primary Ciliary Dyskinesia Research. A Brief Update for Pulmonologists.
Am J Respir Crit Care Med
; 199(2): 136-138, 2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30110178
5.
Glycogen storage diseases.
Nat Rev Dis Primers
; 9(1): 46, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37679331
6.
Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy.
JIMD Rep
; 64(5): 393-400, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37701327
7.
Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia.
Mol Genet Metab Rep
; 31: 100848, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35242580
8.
The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis.
Lancet Respir Med
; 10(5): 459-468, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051411
9.
A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis.
Mol Genet Metab Rep
; 29: 100825, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34900596
10.
Genetic modifiers of liver disease in cystic fibrosis.
JAMA
; 302(10): 1076-83, 2009 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-19738092
11.
Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant.
Mol Genet Metab Rep
; 21: 100537, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31844627
12.
Hemophilia A and B mice, but not VWF-/-mice, display bone defects in congenital development and remodeling after injury.
Sci Rep
; 9(1): 14428, 2019 10 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31594977
13.
The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.
Mol Genet Genomic Med
; 7(9): e911, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31373179
14.
Identification of auxins by a chemical genomics approach.
J Exp Bot
; 59(10): 2757-67, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18515827
15.
Analysis of a large cohort of cystic fibrosis patients with severe liver disease indicates lung function decline does not significantly differ from that of the general cystic fibrosis population.
PLoS One
; 13(10): e0205257, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30307979
16.
Adenotonsillectomy should be avoided whenever possible in infantile-onset Pompe disease.
Mol Genet Metab Rep
; 23: 100574, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32090020
17.
Employing a gain-of-function factor IX variant R338L to advance the efficacy and safety of hemophilia B human gene therapy: preclinical evaluation supporting an ongoing adeno-associated virus clinical trial.
Hum Gene Ther
; 26(2): 69-81, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25419787