Detalhe da pesquisa
1.
Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.
N Engl J Med
; 385(21): 1929-1940, 2021 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788506
2.
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Brain
; 145(8): 2687-2703, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35675510
3.
Inflammation, mitochondrial dysfunction and physical performance: a possible association in older patients with persistent atrial fibrillation-the results of a preliminary study.
Aging Clin Exp Res
; 35(11): 2831-2837, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37733227
4.
The diagnostic challenge of mild citrulline elevation at newborn screening.
Mol Genet Metab
; 135(4): 327-332, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35279366
5.
Morquio B disease: From pathophysiology towards diagnosis.
Mol Genet Metab
; 132(3): 180-188, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33558080
6.
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients.
Clin Chem Lab Med
; 59(9): 1516-1526, 2021 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33915609
7.
Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.
Anal Chem
; 92(9): 6341-6348, 2020 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31922725
8.
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG).
Clin Chem Lab Med
; 59(1): 165-171, 2020 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32776892
9.
Sweat chloride assay by inductively coupled plasma mass spectrometry: a confirmation test for cystic fibrosis diagnosis.
Anal Bioanal Chem
; 412(25): 6909-6916, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32691087
10.
Newborn screening for homocystinurias: Recent recommendations versus current practice.
J Inherit Metab Dis
; 42(1): 128-139, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740731
11.
Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy.
J Cell Physiol
; 233(8): 5829-5837, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29215735
12.
Serum creatinine during physiological perinatal dehydration may estimate individual nephron endowment.
Eur J Pediatr
; 177(9): 1383-1388, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29387982
13.
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.
Int J Mol Sci
; 19(2)2018 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29364180
14.
Expanded newborn screening by mass spectrometry: New tests, future perspectives.
Mass Spectrom Rev
; 35(1): 71-84, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-25952022
15.
Propranolol 0.1% eye micro-drops in newborns with retinopathy of prematurity: a pilot clinical trial.
Pediatr Res
; 81(2): 307-314, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27814346
16.
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
J Inherit Metab Dis
; 40(1): 21-48, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27905001
17.
Study protocol: safety and efficacy of propranolol 0.2% eye drops in newborns with a precocious stage of retinopathy of prematurity (DROP-ROP-0.2%): a multicenter, open-label, single arm, phase II trial.
BMC Pediatr
; 17(1): 165, 2017 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28709412
18.
Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency.
J Clin Immunol
; 41(5): 1112-1115, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33641045
19.
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.
J Inherit Metab Dis
; 39(2): 273-83, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26642971
20.
Successful Propranolol Treatment of a Kaposiform Hemangioendothelioma Apparently Resistant to Propranolol.
Pediatr Blood Cancer
; 63(7): 1290-2, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27100060