Detalhe da pesquisa
1.
Galactokinase deficiency: lessons from the GalNet registry.
Genet Med
; 23(1): 202-210, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32807972
2.
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Clin Genet
; 95(5): 615-626, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30653653
3.
New CTSA mutation in early infantile galactosialidosis.
Pediatr Int
; 60(8): 761-762, 2018 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-29987886
4.
Development of electrospray ionization tandem mass spectrometry methods for the study of a high number of urine markers of inborn errors of metabolism.
Rapid Commun Mass Spectrom
; 26(18): 2131-44, 2012 Sep 30.
Artigo
Inglês
| MEDLINE | ID: mdl-22886809
5.
Galactose epimerase deficiency: lessons from the GalNet registry.
Orphanet J Rare Dis
; 17(1): 331, 2022 09 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36056436
6.
[Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement]. / Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso.
Med Clin (Barc)
; 147(11): 506.e1-506.e7, 2016 Dec 02.
Artigo
Espanhol
| MEDLINE | ID: mdl-27816186
7.
[Epidemiological study of the metabolic diseases with homocystinuria in Spain]. / Estudio epidemiológico de las enfermedades metabólicas con homocistinuria en España.
An Pediatr (Barc)
; 76(3): 133-9, 2012 Mar.
Artigo
Espanhol
| MEDLINE | ID: mdl-22047794
8.
Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH.
J Clin Res Pediatr Endocrinol
; 3(4): 208-11, 2011.
Artigo
Inglês
| MEDLINE | ID: mdl-22155464
9.
Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso / Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement
Med. clín (Ed. impr.)
; 147(11): 506.e1-506.e7, dic. 2016. tab, graf
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-158472