Detalles de la búsqueda
1.
Efficacy of Burosumab in Adults with X-linked Hypophosphatemia (XLH): A Post Hoc Subgroup Analysis of a Randomized Double-Blind Placebo-Controlled Phase 3 Study.
Calcif Tissue Int
; 111(4): 409-418, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35927518
2.
Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment.
Mol Genet Metab
; 131(1-2): 245-252, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32620536
3.
Treating lysosomal storage disorders: What have we learnt?
J Inherit Metab Dis
; 43(1): 125-132, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31140601
4.
The neurological and psychological phenotype of adult patients with early-treated phenylketonuria: A systematic review.
J Inherit Metab Dis
; 42(2): 209-219, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30690773
5.
Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia.
J Inherit Metab Dis
; 42(3): 451-458, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30815886
6.
Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months.
J Inherit Metab Dis
; 41(5): 829-838, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29305734
7.
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations.
J Inherit Metab Dis
; 41(5): 865-876, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29460029
8.
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.
Gut
; 66(6): 1060-1073, 2017 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-26953272
9.
Lost in translation-Challenges in drug development for inherited metabolic diseases.
J Inherit Metab Dis
; 45(3): 381-382, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35373847
10.
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.
J Med Genet
; 52(5): 353-8, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-25795794
11.
Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis.
Mol Genet Metab
; 114(2): 242-7, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25187469
12.
Cognitive dysfunction and depression in Fabry disease: a systematic review.
J Inherit Metab Dis
; 37(2): 177-87, 2014 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-23949010
13.
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.
J Inherit Metab Dis
; 37(1): 21-30, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23780642
14.
Reproducibility of native myocardial T1 mapping in the assessment of Fabry disease and its role in early detection of cardiac involvement by cardiovascular magnetic resonance.
J Cardiovasc Magn Reson
; 16: 99, 2014 Dec 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-25475749
15.
The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: evidence of presymptomatic kidney disease in pediatric Fabry and type-I diabetic patients.
J Proteome Res
; 12(5): 2013-21, 2013 May 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-23464927
16.
Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C.
Eur J Immunol
; 42(7): 1886-92, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22585405
17.
Movement disorders in adult patients with classical galactosemia.
Mov Disord
; 28(6): 804-10, 2013 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-23400815
18.
Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults.
Orphanet J Rare Dis
; 18(1): 94, 2023 04 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-37098529
19.
Benefit of burosumab in adults with X-linked hypophosphataemia (XLH) is maintained with long-term treatment.
RMD Open
; 9(1)2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36854566
20.
Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review.
Mov Disord
; 27(14): 1769-74, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23124517