Search details
1.
Biomarkers for gene therapy clinical trials of lysosomal storage disorders.
Mol Ther
; 2024 Jun 06.
Article
in English
| MEDLINE | ID: mdl-38850023
2.
Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.
N Engl J Med
; 385(21): 1929-1940, 2021 11 18.
Article
in English
| MEDLINE | ID: mdl-34788506
3.
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Brain
; 145(8): 2687-2703, 2022 08 27.
Article
in English
| MEDLINE | ID: mdl-35675510
4.
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.
Article
in English
| MEDLINE | ID: mdl-37733227
5.
The diagnostic challenge of mild citrulline elevation at newborn screening.
Mol Genet Metab
; 135(4): 327-332, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35279366
6.
Morquio B disease: From pathophysiology towards diagnosis.
Mol Genet Metab
; 132(3): 180-188, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33558080
7.
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.
Article
in English
| MEDLINE | ID: mdl-33915609
8.
Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.
Anal Chem
; 92(9): 6341-6348, 2020 05 05.
Article
in English
| MEDLINE | ID: mdl-31922725
9.
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.
Article
in English
| MEDLINE | ID: mdl-32776892
10.
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.
Article
in English
| MEDLINE | ID: mdl-32691087
11.
Newborn screening for homocystinurias: Recent recommendations versus current practice.
J Inherit Metab Dis
; 42(1): 128-139, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30740731
12.
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.
Article
in English
| MEDLINE | ID: mdl-29215735
13.
Serum creatinine during physiological perinatal dehydration may estimate individual nephron endowment.
Eur J Pediatr
; 177(9): 1383-1388, 2018 Sep.
Article
in English
| MEDLINE | ID: mdl-29387982
14.
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.
Article
in English
| MEDLINE | ID: mdl-29364180
15.
Expanded newborn screening by mass spectrometry: New tests, future perspectives.
Mass Spectrom Rev
; 35(1): 71-84, 2016.
Article
in English
| MEDLINE | ID: mdl-25952022
16.
Propranolol 0.1% eye micro-drops in newborns with retinopathy of prematurity: a pilot clinical trial.
Pediatr Res
; 81(2): 307-314, 2017 02.
Article
in English
| MEDLINE | ID: mdl-27814346
17.
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.
Article
in English
| MEDLINE | ID: mdl-27905001
18.
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.
Article
in English
| MEDLINE | ID: mdl-28709412
19.
Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency.
J Clin Immunol
; 41(5): 1112-1115, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33641045
20.
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.
J Inherit Metab Dis
; 39(2): 273-83, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26642971