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1.
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value-based healthcare approach and systematic benefit-risk assessment.
J Inherit Metab Dis;
47(2): 244-254, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38185897
2.
Social cognition, emotion regulation and social competence in classical galactosemia patients without intellectual disability.
Acta Neuropsychiatr;
: 1-12, 2024 Jan 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38178723
3.
Glycoprotein non-metastatic protein B (GPNMB) plasma values in patients with chronic visceral acid sphingomyelinase deficiency.
Mol Genet Metab;
139(4): 107631, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37453187
4.
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public-private partnerships.
J Inherit Metab Dis;
46(5): 806-816, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-36938792
5.
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.
Genet Med;
24(7): 1425-1436, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35471153
6.
Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
J Inherit Metab Dis;
45(6): 1094-1105, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-36053831
7.
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
J Inherit Metab Dis;
45(5): 952-962, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35722880
8.
Effectiveness and safety of mexiletine in patients at risk for (recurrent) ventricular arrhythmias: a systematic review.
Europace;
24(11): 1809-1823, 2022 11 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-36036670
9.
Cost-Based Price Calculation of Mexiletine for Nondystrophic Myotonia.
Value Health;
24(7): 925-929, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-34243835
10.
Independent Registries Are Cost-Effective Tools to Provide Mandatory Postauthorization Surveillance for Orphan Medicinal Products.
Value Health;
24(2): 268-273, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33518033
11.
Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.
Mol Genet Metab;
130(1): 16-26, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32088119
12.
Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome.
Mol Genet Metab;
131(4): 370-379, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33199205
13.
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Mol Genet Metab;
129(3): 171-176, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31954591
14.
Determinants of cerebral radiological progression in Fabry disease.
J Neurol Neurosurg Psychiatry;
91(7): 756-763, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32317398
15.
Developments in the treatment of Fabry disease.
J Inherit Metab Dis;
43(5): 908-921, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32083331
16.
Cognitive functioning and depressive symptoms in Fabry disease: A follow-up study.
J Inherit Metab Dis;
43(5): 1070-1081, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32510623
17.
Bone mineral density is within normal range in most adult phenylketonuria patients.
J Inherit Metab Dis;
43(2): 251-258, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31587319
18.
The 1-13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.
J Inherit Metab Dis;
43(3): 507-517, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31845337
19.
Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease.
Int J Mol Sci;
21(16)2020 Aug 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32806627
20.
Saposin C is a frequent target of paraproteins in Gaucher disease-associated MGUS/multiple myeloma.
Br J Haematol;
184(3): 384-391, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30450574