Detalhe da pesquisa
1.
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.
J Pediatr
; 249: 50-58.e2, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35709957
2.
Postauthorization safety study of betaine anhydrous.
J Inherit Metab Dis
; 45(4): 719-733, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358327
3.
Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art.
Int J Mol Sci
; 22(17)2021 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34502108
4.
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
J Inherit Metab Dis
; 43(4): 671-693, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32266963
5.
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
J Inherit Metab Dis
; 42(2): 333-352, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773687
6.
Newborn screening for homocystinurias: Recent recommendations versus current practice.
J Inherit Metab Dis
; 42(1): 128-139, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740731
7.
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
Hum Mutat
; 38(6): 678-691, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28244183
8.
Potential protective role of endogenous glutamate-oxaloacetate transaminase against glutamate excitotoxicity in fetal hypoxic-ischaemic asphyxia.
Dev Med Child Neurol
; 58(1): 57-62, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26205194
9.
Dimethylarginines as biomarkers for the kidney transplant management in methylmalonic aciduria.
Nephrology (Carlton)
; 20(8): 576-9, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26194982
10.
Sanfilippo syndrome: Overall review.
Pediatr Int
; 57(3): 331-8, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25851924
11.
Health care-associated infections in neonatology.
An Pediatr (Engl Ed)
; 100(1): 46-56, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38177038
12.
Supplementation for Performance and Health in Patients with Phenylketonuria: An Exercise-Based Approach to Improving Dietary Adherence.
Nutrients
; 16(5)2024 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38474766
13.
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
14.
Postnatal exposure to organic pollutants in maternal milk in north-western Spain.
Environ Pollut
; 318: 120903, 2023 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36549446
15.
Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas.
Nutrients
; 15(16)2023 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37630757
16.
Non-invasive biomonitoring of infant exposure to environmental organic pollutants in north-western Spain based on hair analysis. Identification of potential sources.
Environ Pollut
; 339: 122705, 2023 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37827353
17.
A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B.
J Clin Invest
; 133(2)2023 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36413418
18.
Hepatic damage and glutamate oxaloacetate transaminase elevations during fetal asphyxia.
Dev Med Child Neurol
; 59(2): 233-234, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28044319
19.
Perinatal palliative care.
An Pediatr (Engl Ed)
; 96(1): 60.e1-60.e7, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34998731
20.
MODY probability calculator utility in individuals' selection for genetic testing: Its accuracy and performance.
Endocrinol Diabetes Metab
; 5(5): e00332, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35822264