Detalhe da pesquisa
1.
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.
J Inherit Metab Dis
; 46(6): 1170-1185, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37540500
2.
Odimet®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism-An Assessment of Its Effectiveness during the COVID Pandemic.
Nutrients
; 16(3)2024 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38337708
3.
Age- and Sex-Dynamic Fluctuations and Reference Intervals for Alkaline Phosphatase Among the Spanish Population.
Arch Pathol Lab Med
; 2024 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38797525
4.
Paediatric clinical study of 3D printed personalised medicines for rare metabolic disorders.
Int J Pharm
; 657: 124140, 2024 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38643809
5.
Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease.
Front Pediatr
; 10: 969741, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36046474
6.
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
J Clin Med
; 11(10)2022 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35628876
7.
Vitamin C and folate status in hereditary fructose intolerance.
Eur J Clin Nutr
; 76(12): 1733-1739, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35854131
8.
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
9.
Evaluation of Body Composition, Physical Activity, and Food Intake in Patients with Inborn Errors of Intermediary Metabolism.
Nutrients
; 13(6)2021 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34202936
10.
Treatment adherence in tyrosinemia type 1 patients.
Orphanet J Rare Dis
; 16(1): 256, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34082789
11.
Screen Time and Bone Status in Children and Adolescents: A Systematic Review.
Front Pediatr
; 9: 675214, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34926335
12.
Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance.
J Clin Med
; 10(13)2021 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34208868
13.
Clinical Utility of LCT Genotyping in Children with Suspected Functional Gastrointestinal Disorder.
Nutrients
; 12(10)2020 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33019743
14.
Bone Status in Patients with Phenylketonuria: A Systematic Review.
Nutrients
; 12(7)2020 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32698408
15.
[Evaluation and perspective of 20 years of neonatal screening in Galicia. Program results.] / Evaluación y perspectiva de 20 años de cribado neonatal en Galicia. Resultados del programa.
Rev Esp Salud Publica
; 942020 Dec 16.
Artigo
em Espanhol
| MEDLINE | ID: mdl-33323918
16.
Acylcarnitine profile in neonatal hypoxic-ischemic encephalopathy: The value of butyrylcarnitine as a prognostic marker.
Medicine (Baltimore)
; 98(15): e15221, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30985723
17.
Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
Medicine (Baltimore)
; 98(39): e17303, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31574857
18.
Automated therapy preparation of isoleucine formulations using 3D printing for the treatment of MSUD: First single-centre, prospective, crossover study in patients.
Int J Pharm
; 567: 118497, 2019 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31279771
19.
Carbohydrate status in patients with phenylketonuria.
Orphanet J Rare Dis
; 13(1): 103, 2018 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29945661
20.
Correction: Vitamin C and folate status in hereditary fructose intolerance.
Eur J Clin Nutr
; 77(11): 1102-1103, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37673953