Detalhe da pesquisa
1.
Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation.
Neuroradiology
; 66(3): 389-398, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38114794
2.
High-dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.
Eur J Neurol
; 30(2): 538-547, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36334048
3.
Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria.
Int J Mol Sci
; 24(1)2022 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36613492
4.
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.
Neurogenetics
; 22(4): 343-346, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34296368
5.
Plasma Gelsolin Reinforces the Diagnostic Value of FGF-21 and GDF-15 for Mitochondrial Disorders.
Int J Mol Sci
; 22(12)2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34203775
6.
Acute proximal weakness and paraesthesiae.
Pract Neurol
; 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38580432
7.
Efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age. A systematic review and meta-analysis.
Mol Genet Metab
; 121(2): 138-149, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28410878
8.
Acute intermittent porphyria, givosiran, and homocysteine.
J Inherit Metab Dis
; 44(4): 790-791, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34145602
9.
Women with Gaucher Disease.
Biomedicines
; 12(3)2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38540192
10.
The burden of disease and quality of life in patients with acute hepatic porphyria: COPHASE study.
Med Clin (Barc)
; 162(3): 103-111, 2024 02 09.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-37838536
11.
Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome.
J Clin Med
; 12(6)2023 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36983435
12.
Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project.
Orphanet J Rare Dis
; 18(1): 390, 2023 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38102667
13.
Understanding the ecosystem of patients with lysosomal storage diseases in Spain: a qualitative research with patients and health care professionals.
Orphanet J Rare Dis
; 17(1): 17, 2022 01 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35031060
14.
Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome.
J Neurol
; 269(6): 3238-3248, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35088140
15.
Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients.
Nutrients
; 14(13)2022 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35807935
16.
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.
Genes (Basel)
; 13(9)2022 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36140775
17.
Effectiveness and safety of the treatment of lysosomal deposit diseases: Analysis of 22 patients. / Efectividad y seguridad del tratamiento de las enfermedades de depósito lisosomal: análisis de 22 pacientes.
Med Clin (Barc)
; 159(8): 380-384, 2022 10 28.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-35688745
18.
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.
J Clin Med
; 11(17)2022 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36078975
19.
Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department.
Diagnostics (Basel)
; 11(11)2021 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34829496
20.
High Prevalence of Insulin Resistance in Asymptomatic Patients with Acute Intermittent Porphyria and Liver-Targeted Insulin as a Novel Therapeutic Approach.
Biomedicines
; 9(3)2021 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33807619