Detalhe da pesquisa
1.
Parents' experience of the communication process of positivity at newborn screening for metabolic diseases: A qualitative study.
Child Care Health Dev
; 49(6): 961-971, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36787987
2.
Evidence of Treatment Benefits in Patients with Mucopolysaccharidosis Type I-Hurler in Long-term Follow-up Using a New Magnetic Resonance Imaging Scoring System.
J Pediatr
; 240: 297-301.e5, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34547335
3.
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients.
Clin Chem Lab Med
; 59(9): 1516-1526, 2021 08 26.
Artigo
Inglês
| MEDLINE | ID: mdl-33915609
4.
Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases.
Int J Mol Sci
; 20(2)2019 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30650529
5.
Hodgkin lymphoma in a patient with mosaic trisomy 18: First clinical observation.
Am J Med Genet A
; 170(3): 777-80, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26701824
6.
Precocious puberty and empty sella syndrome in a girl cured of acute lymphoblastic leukemia.
J Pediatr Endocrinol Metab
; 24(11-12): 1067-9, 2011.
Artigo
Inglês
| MEDLINE | ID: mdl-22308868
7.
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
Clin Epigenetics
; 13(1): 137, 2021 07 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34215320
8.
A case report of a successful monochorionic diamniotic twin pregnancy in a patient affected by sickle cell disease treated with erythrocytapheresis.
Ther Apher Dial
; 14(1): 112-5, 2010 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-20438528