Detalhe da pesquisa
1.
Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital.
Blood Cells Mol Dis
; 98: 102704, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36265282
2.
A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.
Hum Mutat
; 41(2): 420-431, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31608518
3.
Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis.
Eur Respir J
; 55(2)2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31831582
4.
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.
J Inherit Metab Dis
; 42(6): 1192-1230, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982989
5.
Missense mutations have unexpected consequences: The McArdle disease paradigm.
Hum Mutat
; 39(10): 1338-1343, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30011114
6.
Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
J Inherit Metab Dis
; 41(6): 1295, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30030676
7.
Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
J Inherit Metab Dis
; 41(6): 1027-1035, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29926259
8.
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
BMC Genomics
; 18(Suppl 8): 819, 2017 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29143597
9.
Rare Neurodegenerative Diseases: Clinical and Genetic Update.
Adv Exp Med Biol
; 1031: 443-496, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29214587
10.
Genes and exercise intolerance: insights from McArdle disease.
Physiol Genomics
; 48(2): 93-100, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26465709
11.
Paediatric Fabry disease: prognostic significance of ocular changes for disease severity.
BMC Ophthalmol
; 16(1): 202, 2016 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-27852300
12.
Gender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey.
Int J Mol Sci
; 17(12)2016 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27886142
13.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
J Inherit Metab Dis
; 38(6): 1059-74, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25875216
14.
Addressing Diagnostic Gaps and Priorities of the Global Rare Diseases Community: Recommendations from the IRDiRC Diagnostics Scientific Committee.
Eur J Med Genet
; : 104951, 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38848991
15.
Myotilinopathy unmasked by statin treatment: A case report.
Muscle Nerve
; 57(6): E138-E140, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29350769
16.
Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvement.
Orphanet J Rare Dis
; 18(1): 245, 2023 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37644568
17.
Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ).
Health Qual Life Outcomes
; 10: 116, 2012 Sep 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22992222
18.
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry.
Orphanet J Rare Dis
; 17(1): 238, 2022 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35725623
19.
A novel nonstop mutation in TYMP does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathy.
Hum Mutat
; 32(4): E2061-8, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21412940
20.
Impact of measures to enhance the value of observational surveys in rare diseases: the Fabry Outcome Survey (FOS).
Value Health
; 14(6): 862-6, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21914507